• 4714 Citations
  • 30 h-Index
19952017
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Research Output 1995 2017

  • 4714 Citations
  • 30 h-Index
  • 63 Article
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Article
29 Citations (Scopus)

11q13 is a susceptibility locus for hormone receptor positive breast cancer

Lambrechts, D., Truong, T., Justenhoven, C., Humphreys, M. K., Wang, J., Hopper, J. L., Dite, G. S., Apicella, C., Southey, M. C., Schmidt, M. K., Broeks, A., Cornelissen, S., van Hien, R., Sawyer, E., Tomlinson, I., Kerin, M., Miller, N., Milne, R. L., Zamora, M. P., Pérez, J. I. A. & 131 others, Benítez, J., Hamann, U., Ko, Y. D., Brüning, T., Chang-Claude, J., Eilber, U., Hein, R., Nickels, S., Flesch-Janys, D., Wang-Gohrke, S., John, E. M., Miron, A., Winqvist, R., Pylkäs, K., Jukkola-Vuorinen, A., Grip, M., Chenevix-Trench, G., Beesley, J., Chen, X., Investigators, KC., Menegaux, F., Cordina-Duverger, E., Shen, C. Y., Yu, J. C., Wu, P. E., Hou, M. F., Andrulis, I. L., Selander, T., Glendon, G., Mulligan, A. M., Anton-Culver, H., Ziogas, A., Muir, K. R., Lophatananon, A., Rattanamongkongul, S., Puttawibul, P., Jones, M., Orr, N., Ashworth, A., Swerdlow, A., Severi, G., Baglietto, L., Giles, G., Southey, M., Marmé, F., Schneeweiss, A., Sohn, C., Burwinkel, B., Yesilyurt, B. T., Neven, P., Paridaens, R., Wildiers, H., Brenner, H., Müller, H., Arndt, V., Stegmaier, C., Meindl, A., Schott, S., Bartram, C. R., Schmutzler, R. K., Cox, A., Brock, I. W., Elliott, G., Cross, S. S., Fasching, P. A., Schulz-Wendtland, R., Ekici, A. B., Beckmann, M. W., Fletcher, O., Johnson, N., Silva, I. D. S., Peto, J., Nevanlinna, H., Muranen, T. A., Aittomäki, K., Blomqvist, C., Dörk, T., Schürmann, P., Bremer, M., Hillemanns, P., Bogdanova, N. V., Antonenkova, N. N., Rogov, Y. I., Karstens, J. H., Khusnutdinova, E., Bermisheva, M., Prokofieva, D., Gancev, S., Jakubowska, A., Lubinski, J., Jaworska, K., Durda, K., Nordestgaard, B. G., Bojesen, S. E., Lanng, C., Mannermaa, A., Kataja, V., Kosma, V. M., Hartikainen, J. M., Radice, P., Peterlongo, P., Manoukian, S., Bernard, L., Couch, F. J., Olson, J. E., Wang, X., Fredericksen, Z., Alnæs, G. G., Kristensen, V., Børresen-Dale, A. L., Devilee, P., Tollenaar, R. A. E. M., Seynaeve, C. M., Hooning, M. J., García-Closas, M., Chanock, S. J., Lissowska, J., Sherman, M. E., Hall, P., Liu, J., Czene, K., Kang, D., Yoo, K. Y., Noh, D. Y., Lindblom, A., Margolin, S., Dunning, A. M., Pharoah, P. D. P., Easton, D. F., Guénel, P. & Brauch, H., Jul 2012, In : Human Mutation. 33, 7, p. 1123-1132 10 p.

Research output: Contribution to journalArticle

Hormones
Breast Neoplasms
Estrogen Receptors
Chromosomes, Human, Pair 10
Chromosomes, Human, Pair 9
13 Citations (Scopus)

9q31.2-rs865686 as a susceptibility locus for estrogen receptor-positive breast cancer: Evidence from the Breast Cancer Association Consortium

Warren, H., Dudbridge, F., Fletcher, O., Orr, N., Johnson, N., Hopper, J. L., Apicella, C., Southey, M. C., Mahmoodi, M., Schmidt, M. K., Broeks, A., Cornelissen, S., Braaf, L. M., Muir, K. R., Lophatananon, A., Chaiwerawattana, A., Wiangnon, S., Fasching, P. A., Beckmann, M. W., Ekici, A. B. & 120 others, Schulz-Wendtland, R., Sawyer, E. J., Tomlinson, I., Kerin, M., Burwinkel, B., Marme, F., Schneeweiss, A., Sohn, C., Guénel, P., Truong, T., Laurent-Puig, P., Mulot, C., Bojesen, S. E., Nielsen, S. F., Flyger, H., Nordestgaard, B. G., Milne, R. L., Benítez, J., Arias-Pérez, J. I., Zamora, M. P., Anton-Culver, H., Ziogas, A., Bernstein, L., Dur, C. C., Brenner, H., Müller, H., Arndt, V., Langheinz, A., Meindl, A., Golatta, M., Bartram, C. R., Schmutzler, R. K., Brauch, H., Justenhoven, C., Brüning, T., Chang-Claude, J., Wang-Gohrke, S., Eilber, U., Dörk, T., Schürmann, P., Bremer, M., Hillemanns, P., Nevanlinna, H., Muranen, T. A., Aittomäki, K., Blomqvist, C., Bogdanova, N., Antonenkova, N., Rogov, Y., Bermisheva, M., Prokofyeva, D., Zinnatullina, G., Khusnutdinova, E., Lindblom, A., Margolin, S., Mannermaa, A., Kosma, V. M., Hartikainen, J. M., Kataja, V., Chenevix-Trench, G., Beesley, J., Chen, X., Lambrechts, D., Smeets, A., Paridaens, R., Weltens, C., Flesch-Janys, D., Buck, K., Behrens, S., Peterlongo, P., Bernard, L., Manoukian, S., Radice, P., Couch, F. J., Vachon, C., Wang, X., Olson, J., Giles, G., Baglietto, L., McLean, C. A., Severi, G., John, E. M., Miron, A., Winqvist, R., Pylkäs, K., Jukkola-Vuorinen, A., Grip, M., Andrulis, I. L., Knight, J. A., Mulligan, A. M., Weerasooriya, N., Devilee, P., Tollenaar, R. A. E. M., Martens, J. W. M., Seynaeve, C. M., Hooning, M. J., Hollestelle, A., Jager, A., Tilanus-Linthorst, M. M. A., Hall, P., Czene, K., Liu, J., Li, J., Cox, A., Cross, S. S., Brock, I. W., Reed, M. W. R., Pharoah, P., Blows, F. M., Dunning, A. M., Ghoussaini, M., Ashworth, A., Swerdlow, A., Jones, M., Schoemaker, M., Easton, D. F., Humphreys, M., Wang, Q., Peto, J. & Dos-Santos-Silva, I., Oct 2012, In : Cancer Epidemiology Biomarkers and Prevention. 21, 10, p. 1783-1791 9 p.

Research output: Contribution to journalArticle

Estrogen Receptors
Breast Neoplasms
Alleles
Confidence Intervals
Genome-Wide Association Study
237 Citations (Scopus)

A cluster of sulfatase genes on Xp22.3: Mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathy

Franco, B., Meroni, G., Parenti, G., Levilliers, J., Bernard, L., Gebbia, M., Cox, L., Maroteaux, P., Sheffield, L., Rappold, G. A., Andria, G., Petit, C. & Ballabio, A., Apr 7 1995, In : Cell. 81, 1, p. 15-25 11 p.

Research output: Contribution to journalArticle

Chondrodysplasia Punctata
Sulfatases
Warfarin
Multigene Family
Genes
215 Citations (Scopus)

Acute myeloid leukemia bearing cytoplasmic nucleophosmin (NPMc+ AML) shows a distinct gene expression profile characterized by up-regulation of genes involved in stem-cell maintenance

Alcalay, M., Tiacci, E., Bergomas, R., Bigerna, B., Venturini, E., Minardi, S. P., Meani, N., Diverio, D., Bernard, L., Tizzoni, L., Volorio, S., Luzi, L., Colombo, E., Lo Coco, F., Mecucci, C., Falini, B. & Pelicci, P. G., Aug 1 2005, In : Blood. 106, 3, p. 899-902 4 p.

Research output: Contribution to journalArticle

Bearings (structural)
Stem cells
Transcriptome
Acute Myeloid Leukemia
Gene expression
11 Citations (Scopus)

Acute promyelocytic leukemias share cooperative mutations with other myeloid-leukemia subgroups

Riva, L., Ronchini, C., Bodini, M., Lo-Coco, F., Lavorgna, S., Ottone, T., Martinelli, G., Iacobucci, I., Tarella, C., Cignetti, A., Volorio, S., Bernard, L., Russo, A., Melloni, G. E. M., Luzi, L., Alcalay, M., Dellino, G. I. & Pelicci, P. G., Sep 2013, In : Blood Cancer Journal. 3, 9, e147.

Research output: Contribution to journalArticle

1 Citation (Scopus)

A knowledge-based framework for the discovery of cancer-predisposing variants using large-scale sequencing breast cancer data

Melloni, G. E. M., Mazzarella, L., Bernard, L., Bodini, M., Russo, A., Luzi, L., Pelicci, P. G. & Riva, L., May 31 2017, In : Breast Cancer Research. 19, 1, 63.

Research output: Contribution to journalArticle

Breast Neoplasms
Neoplasm Genes
Neoplasms
Genes
Genome-Wide Association Study
9 Citations (Scopus)

An autoinflammatory neurological disease due to interleukin 6 hypersecretion

Salsano, E., Rizzo, A., Bedini, G., Bernard, L., Dallolio, V., Volorio, S., Lazzaroni, M., Ceccherini, I., Lazarevic, D., Cittaro, D., Stupka, E., Paterra, R., Farina, L., Savoiardo, M., Pareyson, D. & Sciacca, F. L., Feb 21 2013, (Accepted/In press) In : Journal of Neuroinflammation. p. 29 1 p.

Research output: Contribution to journalArticle

Interleukin-6
Mutation
Interleukin-1
Hearing Loss
Meningitis
225 Citations (Scopus)
MicroRNAs
Routine Diagnostic Tests
Lung Neoplasms
Non-Small Cell Lung Carcinoma
Serum
11 Citations (Scopus)

Assessing associations between the AURKAHMMR-TPX2-TUBG1 functional module and breast cancer risk in BRCA1/2 mutation carriers

Blanco, I., Kuchenbaecker, K., Cuadras, D., Wang, X., Barrowdale, D., De Garibay, G. R., Librado, P., Sánchez-Gracia, A., Rozas, J., Bonifaci, N., McGuffog, L., Pankratz, V. S., Islam, A., Mateo, F., Berenguer, A., Petit, A., Català, I., Brunet, J., Feliubadaló, L., Tornero, E. & 176 others, Benítez, J., Osorio, A., Teresa, R., Teresa, C., Nevanlinna, H., Aittomäki, K., Arun, B. K., Toland, A. E., Karlan, B. Y., Walsh, C., Lester, J., Greene, M. H., Mai, P. L., Nussbaum, R. L., Andrulis, I. L., Domchek, S. M., Nathanson, K. L., Rebbeck, T. R., Barkardottir, R. B., Jakubowska, A., Lubinski, J., Durda, K., Jaworska-Bieniek, K., Claes, K., Van Maerken, T., Díez, O., Hansen, T. V., Jønson, L., Gerdes, A. M., Ejlertsen, B., De La Hoya, M., Caldés, T., Dunning, A. M., Oliver, C., Fineberg, E., Cook, M., Peock, S., McCann, E., Murray, A., Jacobs, C., Pichert, G., Lalloo, F., Chu, C., Dorkins, H., Paterson, J., Ong, K. R., Teixeira, M. R., Teixeira, T., Hogervorst, F. B. L., Van Der Hout, A. H., Seynaeve, C., Van Der Luijt, R. B., Ligtenberg, M. J. L., Devilee, P., Wijnen, J. T., Rookus, M. A., Meijers-Heijboer, H. E. J., Blok, M. J., Van Den Ouweland, A. M. W., Aalfs, C. M., Rodriguez, G. C., Phillips, K. A. A., Piedmonte, M., Nerenstone, S. R., Bae-Jump, V. L., O'Malley, D. M., Ratner, E. S., Schmutzler, R. K., Wappenschmidt, B., Rhiem, K., Engel, C., Meindl, A., Ditsch, N., Arnold, N., Plendl, H. J., Niederacher, D., Sutter, C., Wang-Gohrke, S., Steinemann, D., Preisler-Adams, S., Kast, K., Varon-Mateeva, R., Gehrig, A., Bojesen, A., Pedersen, I. S., Sunde, L., Jensen, U. B., Thomassen, M., Kruse, T. A., Foretova, L., Peterlongo, P., Bernard, L., Peissel, B., Scuvera, G., Manoukian, S., Radice, P., Ottini, L., Montagna, M., Agata, S., Maugard, C., Simard, J., Soucy, P., Berger, A., Fink-Retter, A., Singer, C. F., Rappaport, C., Geschwantler-Kaulich, D., Tea, M. K., Pfeiler, G., John, E. M., Miron, A., Neuhausen, S. L., Terry, M. B., Chung, W. K., Daly, M. B., Goldgar, D. E., Janavicius, R., Dorfling, C. M., Van Rensburg, E. J., Fostira, F., Konstantopoulou, I., Garber, J., Godwin, A. K., Olah, E., Narod, S. A., Rennert, G., Paluch, S. S., Laitman, Y., Friedman, E., Liljegren, A., Rantala, J., Stenmark-Askmalm, M., Loman, N., Imyanitov, E. N., Hamann, U., Spurdle, A. B., Healey, S., Weitzel, J. N., Herzog, J., Margileth, D., Gorrini, C., Esteller, M., Gómez, A., Sayols, S., Vidal, E., Heyn, H., Stoppa-Lyonnet, D., Léoné, M., Barjhoux, L., Fassy-Colcombet, M., De Pauw, A., Lasset, C., Ferrer, S. F., Castera, L., Berthet, P., Cornelis, F., Bignon, Y. J., Damiola, F., Mazoyer, S., Sinilnikova, O. M., Maxwell, C. A., Vijai, J., Robson, M., Kauff, N., Corines, M. J., Villano, D., Cunningham, J., Lee, A., Lindor, N., Lázaro, C., Easton, D. F., Offit, K., Chenevix-Trench, G., Couch, F. J., Antoniou, A. C. & Pujana, M. A., Apr 1 2015, In : PLoS One. 10, 4, 120020.

Research output: Contribution to journalArticle

Aurora Kinase A
breast neoplasms
Breast Neoplasms
mutation
Mutation
175 Citations (Scopus)

Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer

Rebbeck, T. R., Mitra, N., Wan, F., Sinilnikova, O. M., Healey, S., McGuffog, L., Chenevix-Trench, G., Easton, D. F., Antoniou, A. C., Nathanson, K. L., Laitman, Y., Kushnir, A., Paluch-Shimon, S., Berger, R., Zidan, J., Friedman, E., Ehrencrona, H., Stenmark-Askmalm, M., Einbeigi, Z., Loman, N. & 234 others, Harbst, K., Rantala, J., Melin, B., Huo, D., Olopade, O. I., Seldon, J., Ganz, P. A., Nussbaum, R. L., Chan, S. B., Odunsi, K., Gayther, S. A., Domchek, S. M., Arun, B. K., Lu, K. H., Mitchell, G., Karlan, B. Y., Walsh, C., Lester, J., Godwin, A. K., Pathak, H., Ross, E., Daly, M. B., Whittemore, A. S., John, E. M., Miron, A., Terry, M. B., Chung, W. K., Goldgar, D. E., Buys, S. S., Janavičius, R., Tihomirova, L., Tung, N., Dorfling, C. M., Van Rensburg, E. J., Steele, L., Neuhausen, S. L., Ding, Y. C., Ejlertsen, B., Gerdes, A. M., Hansen, T. V. O., Ramon Y Cajal, T., Osorio, A., Benitez, J., Godino, J., Tejada, M. I., Duran, M., Weitzel, J. N., Bobolis, K. A., Sand, S. R., Fontaine, A., Savarese, A., Pasini, B., Peissel, B., Bonanni, B., Zaffaroni, D., Vignolo-Lutati, F., Scuvera, G., Giannini, G., Bernard, L., Genuardi, M., Radice, P., Dolcetti, R., Manoukian, S., Pensotti, V., Gismondi, V., Yannoukakos, D., Fostira, F., Garber, J., Torres, D., Rashid, M. U., Hamann, U., Peock, S., Frost, D., Platte, R., Evans, D. G., Eeles, R., Davidson, R., Eccles, D., Cole, T., Cook, J., Brewer, C., Hodgson, S., Morrison, P. J., Walker, L., Porteous, M. E., Kennedy, M. J., Izatt, L., Adlard, J., Donaldson, A., Ellis, S., Sharma, P., Schmutzler, R. K., Wappenschmidt, B., Becker, A., Rhiem, K., Hahnen, E., Engel, C., Meindl, A., Engert, S., Ditsch, N., Arnold, N., Plendl, H. J., Mundhenke, C., Niederacher, D., Fleisch, M., Sutter, C., Bartram, C. R., Dikow, N., Wang-Gohrke, S., Gadzicki, D., Steinemann, D., Kast, K., Beer, M., Varon-Mateeva, R., Gehrig, A., Weber, B. H., Stoppa-Lyonnet, D., Belotti, M., Gauthier-Villars, M., Damiola, F., Boutry-Kryza, N., Lasset, C., Sobol, H., Peyrat, J. P., Muller, D., Fricker, J. P., Collonge-Rame, M. A., Mortemousque, I., Nogues, C., Rouleau, E., Isaacs, C., De Paepe, A., Poppe, B., Claes, K., De Leeneer, K., Piedmonte, M., Rodriguez, G., Wakely, K., Boggess, J., Blank, S. V., Basil, J., Azodi, M., Phillips, K. A., Caldes, T., De La Hoya, M., Romero, A., Nevanlinna, H., Aittomaki, K., Van Der Hout, A. H., Hogervorst, F. B. L., Verhoef, S., Collee, J. M., Seynaeve, C., Oosterwijk, J. C., Gille, J. J. P., Wijnen, J. T., Gomez Garcia, E. B., Kets, C. M., Ausems, M. G. E. M., Aalfs, C. M., Devilee, P., Mensenkamp, A. R., Kwong, A., Olah, E., Papp, J., Diez, O., Lazaro, C., Darder, E., Blanco, I., Salinas, M., Jakubowska, A., Lubinski, J., Gronwald, J., Jaworska-Bieniek, K., Durda, K., Sukiennicki, G., Huzarski, T., Byrski, T., Cybulski, C., Toloczko-Grabarek, A., Złowocka-Perłowska, E., Menkiszak, J., Arason, A., Barkardottir, R. B., Simard, J., Laframboise, R., Montagna, M., Agata, S., Alducci, E., Peixoto, A., Teixeira, M. R., Spurdle, A. B., Lee, M. H., Park, S. K., Kim, S. W., Friebel, T. M., Couch, F. J., Lindor, N. M., Pankratz, V. S., Guidugli, L., Wang, X., Tischkowitz, M., Foretova, L., Vijai, J., Offit, K., Robson, M., Rau-Murthy, R., Kauff, N., Fink-Retter, A., Singer, C. F., Rappaport, C., Gschwantler-Kaulich, D., Pfeiler, G., Tea, M. K., Berger, A., Greene, M. H., Mai, P. L., Imyanitov, E. N., Toland, A. E., Senter, L., Bojesen, A., Pedersen, I. S., Skytte, A. B., Sunde, L., Thomassen, M., Moeller, S. T., Kruse, T. A., Jensen, U. B., Caligo, M. A., Aretini, P., Teo, S. H., Selkirk, C. G., Hulick, P. J. & Andrulis, I., Apr 7 2015, In : Journal of the American Medical Association. 313, 13, p. 1347-1361 15 p.

Research output: Contribution to journalArticle

Ovarian Neoplasms
Breast Neoplasms
Mutation
Neoplasms
Second Primary Neoplasms
593 Citations (Scopus)

Biological and Molecular Heterogeneity of Breast Cancers Correlates with Their Cancer Stem Cell Content

Pece, S., Tosoni, D., Confalonieri, S., Mazzarol, G., Vecchi, M., Ronzoni, S., Bernard, L., Viale, G., Pelicci, P. G. & Di Fiore, P. P., Jan 8 2010, In : Cell. 140, 1, p. 62-73 12 p.

Research output: Contribution to journalArticle

Neoplastic Stem Cells
Stem cells
Breast Neoplasms
Tumors
Cells
38 Citations (Scopus)

CDKN2A is the main susceptibility gene in Italian pancreatic cancer families

Ghiorzo, P., Fornarini, G., Sciallero, S., Battistuzzi, L., Belli, F., Bernard, L., Bonelli, L., Borgonovo, G., Bruno, W., De Cian, F., Decensi, A., Filauro, M., Faravelli, F., Gozza, A., Gargiulo, S., Mariette, F., Nasti, S., Pastorino, L., Queirolo, P., Savarino, V. & 2 others, Varesco, L. & Scarrà, G. B., Mar 2012, In : Journal of Medical Genetics. 49, 3, p. 164-170 7 p.

Research output: Contribution to journalArticle

Pancreatic Neoplasms
Mutation
Adenocarcinoma
Genes
Germ-Line Mutation
15 Citations (Scopus)

cDNA characterization and chromosome mapping of the human Gas2 gene

Collavin, L., Buzzai, M., Saccone, S., Bernard, L., Federico, C., DellaValle, G., Brancolini, C. & Schneider, C., Mar 1 1998, In : Genomics. 48, 2, p. 265-269 5 p.

Research output: Contribution to journalArticle

Chromosome Mapping
Complementary DNA
Radiation Hybrid Mapping
Microfilament Proteins
Caspase 1
13 Citations (Scopus)

Characterization of an Italian founder mutation in the RING-finger domain of BRCA1

Caleca, L., Putignano, A. L., Colombo, M., Congregati, C., Sarkar, M., Magliery, T. J., Ripamonti, C. B., Foglia, C., Peissel, B., Zaffaroni, D., Manoukian, S., Tondini, C., Barile, M., Pensotti, V., Bernard, L., Papi, L. & Radice, P., Feb 6 2014, In : PLoS One. 9, 2, e86924.

Research output: Contribution to journalArticle

RING Finger Domains
BRCA1 Protein
mutation
Mutation
RNA-Directed DNA Polymerase
14 Citations (Scopus)

Cloning and functional analysis of SEL1L promoter region, a pancreas-specific gene

Cattaneo, M., Sorio, C., Malferrari, G., Rogozin, I. B., Bernard, L., Scarpa, A., Zollo, M. & Biunno, I., 2001, In : DNA and Cell Biology. 20, 1, p. 1-9 9 p.

Research output: Contribution to journalArticle

Genetic Promoter Regions
Organism Cloning
Pancreas
Hepatocyte Nuclear Factors
Genes
48 Citations (Scopus)

Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2

Mulligan, A. M., Couch, F. J., Barrowdale, D., Domchek, S. M., Eccles, D., Nevanlinna, H., Ramus, S. J., Robson, M., Sherman, M., Spurdle, A. B., Wappenschmidt, B., Lee, A., McGuffog, L., Healey, S., Sinilnikova, O. M., Janavicius, R., Hansen, T. V., Nielsen, F. C., Ejlertsen, B., Osorio, A. & 162 others, Muñoz-Repeto, I., Durán, M., Godino, J., Pertesi, M., Benítez, J., Peterlongo, P., Manoukian, S., Peissel, B., Zaffaroni, D., Cattaneo, E., Bonanni, B., Viel, A., Pasini, B., Papi, L., Ottini, L., Savarese, A., Bernard, L., Radice, P., Hamann, U., Verheus, M., Meijers-Heijboer, H. E. J., Wijnen, J., Gómez García, E. B., Nelen, M. R., Kets, C. M., Seynaeve, C., Tilanus-Linthorst, M. M. A., van der Luijt, R. B., Os, T. V., Rookus, M., Frost, D., Jones, J. L., Evans, D. G., Lalloo, F., Eeles, R., Izatt, L., Adlard, J., Davidson, R., Cook, J., Donaldson, A., Dorkins, H., Gregory, H., Eason, J., Houghton, C., Barwell, J., Side, L. E., McCann, E., Murray, A., Peock, S., Godwin, A. K., Schmutzler, R. K., Rhiem, K., Engel, C., Meindl, A., Ruehl, I., Arnold, N., Niederacher, D., Sutter, C., Deissler, H., Gadzicki, D., Kast, K., Preisler-Adams, S., Varon-Mateeva, R., Schoenbuchner, I., Fiebig, B., Heinritz, W., Schäfer, D., Gevensleben, H., Caux-Moncoutier, V., Fassy-Colcombet, M., Cornelis, F., Mazoyer, S., Léoné, M., Boutry-Kryza, N., Hardouin, A., Berthet, P., Muller, D., Fricker, J. P., Mortemousque, I., Pujol, P., Coupier, I., Lebrun, M., Kientz, C., Longy, M., Sevenet, N., Stoppa-Lyonnet, D., Isaacs, C., Caldes, T., de la Hoya, M., Heikkinen, T., Aittomäki, K., Blanco, I., Lazaro, C., Barkardottir, R. B., Soucy, P., Dumont, M., Simard, J., Montagna, M., Tognazzo, S., D'Andrea, E., Fox, S., Yan, M., Rebbeck, T., Olopade, O. I., Weitzel, J. N., Lynch, H. T., Ganz, P. A., Tomlinson, G. E., Wang, X., Fredericksen, Z., Pankratz, V. S., Lindor, N. M., Szabo, C., Offit, K., Sakr, R., Gaudet, M., Bhatia, J., Kauff, N., Singer, C. F., Tea, M. K., gschwantler-kaulich, D., Fink-Retter, A., Mai, P. L., Greene, M. H., Imyanitov, E., O'Malley, F. P., Ozcelik, H., Glendon, G., Toland, A. E., Gerdes, A. M., Thomassen, M., Kruse, T. A., Jensen, U. B., Skytte, A. B., Caligo, M. A., Soller, M., Henriksson, K., Wachenfeldt, V. A., Arver, B., Stenmark-Askmalm, M., Karlsson, P., Ding, Y. C., Neuhausen, S. L., Beattie, M., Pharoah, P. D. P., Moysich, K. B., Nathanson, K. L., Karlan, B. Y., Gross, J., John, E. M., Daly, M. B., Buys, S. M., Southey, M. C., Hopper, J. L., Terry, M. B., Chung, W., Miron, A. F., Goldgar, D., Chenevix-Trench, G., Easton, D. F., Andrulis, I. L. & Antoniou, A. C., Nov 2 2011, In : Breast Cancer Research. 13, 6, R110.

Research output: Contribution to journalArticle

Alleles
Estrogens
Research Personnel
Breast Neoplasms
Mutation
34 Citations (Scopus)

Common variants at the 19p13.1 and ZNF365 loci are associated with ER subtypes of breast cancer and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers

Couch, F. J., Gaudet, M. M., Antoniou, A. C., Ramus, S. J., Kuchenbaecker, K. B., Soucy, P., Beesley, J., Chen, X., Wang, X., Kirchhoff, T., McGuffog, L., Barrowdale, D., Lee, A., Healey, S., Sinilnikova, O. M., Andrulis, I. L., Ozcelik, H., Mulligan, A. M., Thomassen, M., Gerdes, A. M. & 170 others, Jensen, U. B., Skytte, A. B., Kruse, T. A., Caligo, M. A., Von Wachenfeldt, A., Barbany-Bustinza, G., Loman, N., Soller, M., Ehrencrona, H., Karlsson, P., Nathanson, K., Rebbeck, T. R., Domchek, S. M., Jakubowska, A., Lubinski, J., Jaworska, K., Durda, K., Zołwocka, E., Huzarski, T., Byrski, T., Gronwald, J., Cybulski, C., Goŕski, B., Osorio, A., Durań, M., Tejada, M. I., Benitez, J., Hamann, U., Hogervorst, F. B. L., Van Os, T. A., Van Leeuwen, F. E., Meijers-Heijboer, H. E. J., Wijnen, J., Blok, M. J., Kets, M., Hooning, M. J., Oldenburg, R. A., Ausems, M. G. E. M., Peock, S., Frost, D., Ellis, S. D., Platte, R., Fineberg, E., Evans, D. G., Jacobs, C., Eeles, R. A., Adlard, J., Davidson, R., Eccles, D. M., Cole, T., Cook, J., Paterson, J., Brewer, C., Douglas, F., Hodgson, S. V., Morrison, P. J., Walker, L., Porteous, M. E., Kennedy, M. J., Side, L. E., Bove, B., Godwin, A. K., Stoppa-Lyonnet, D., Fassy-Colcombet, M., Castera, L., Cornelis, F., Mazoyer, S., Leóne, M., Boutry-Kryza, N., Bressac-de Paillerets, B., Caron, O., Pujol, P., Coupier, I., Delnatte, C., Akloul, L., Lynch, H. T., Snyder, C. L., Buys, S. S., Daly, M. B., Terry, M., Chung, W. K., John, E. M., Miron, A., Southey, M. C., Hopper, J. L., Goldgar, D. E., Singer, C. F., Rappaport, C., Tea, M. K. M., Fink-Retter, A., Hansen, T. V. O., Nielsen, F. C., Arason, A., Vijai, J., Shah, S., Sarrel, K., Robson, M. E., Piedmonte, M., Phillips, K., Basil, J., Rubinstein, W. S., Boggess, J., Wakeley, K., Ewart-Toland, A., Montagna, M., Agata, S., Imyanitov, E. N., Isaacs, C., Janavicius, R., Lazaro, C., Blanco, I., Feliubadalo, L., Brunet, J., Gayther, S. A., Pharoah, P. P. D., Odunsi, K. O., Karlan, B. Y., Walsh, C. S., Olah, E., Teo, S. H., Ganz, P. A., Beattie, M. S., Van Rensburg, E. J., Dorfling, C. M., Diez, O., Kwong, A., Schmutzler, R. K., Wappenschmidt, B., Engel, C., Meindl, A., Ditsch, N., Arnold, N., Heidemann, S., Niederacher, D., Preisler-Adams, S., Gadzicki, D., Varon-Mateeva, R., Deissler, H., Gehrig, A., Sutter, C., Kast, K., Fiebig, B., Heinritz, W., Caldes, T., De La Hoya, M., Muranen, T. A., Nevanlinna, H., Tischkowitz, M. D., Spurdle, A. B., Neuhausen, S. L., Ding, Y. C., Lindor, N. M., Fredericksen, Z., Pankratz, V. S., Peterlongo, P., Manoukian, S., Peissel, B., Zaffaroni, D., Barile, M., Bernard, L., Viel, A., Giannini, G., Varesco, L., Radice, P., Greene, M. H., Mai, P. L., Easton, D. F., Chenevix-Trench, G., Offit, K. & Simard, J., Apr 2012, In : Cancer Epidemiology Biomarkers and Prevention. 21, 4, p. 645-657 13 p.

Research output: Contribution to journalArticle

Estrogen Receptors
Ovarian Neoplasms
Breast Neoplasms
Mutation
Confidence Intervals
88 Citations (Scopus)

Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers

Antoniou, A. C., Sinilnikova, O. M., McGuffog, L., Healey, S., Nevanlinna, H., Heikkinen, T., Simard, J., Spurdle, A. B., Beesley, J., Chen, X., Neuhausen, S. L., Ding, Y. C., Couch, F. J., Wang, X., Fredericksen, Z., Peterlongo, P., Peissel, B., Bonanni, B., Viel, A., Bernard, L. & 117 others, Radice, P., Szabo, C. I., Foretova, L., Zikan, M., Claes, K., Greene, M. H., Mai, P. L., Rennert, G., Lejbkowicz, F., Andrulis, I. L., Ozcelik, H., Glendon, G., Gerdes, A. M., Thomassen, M., Sunde, L., Caligo, M. A., Laitman, Y., Kontorovich, T., Cohen, S., Kaufman, B., Dagan, E., Baruch, R. G., Friedman, E., Harbst, K., Barbany-Bustinza, G., Rantala, J., Ehrencrona, H., Karlsson, P., Domchek, S. M., Nathanson, K. L., Osorio, A., Blanco, I., Lasa, A., Benítez, J., Hamann, U., Hogervorst, F. B. L., Rookus, M. A., Collee, J. M., Devilee, P., Ligtenberg, M. J., van der Luijt, R. B., Aalfs, C. M., Waisfisz, Q., Wijnen, J., van Roozendaal, C. E. P., Peock, S., Cook, M., Frost, D., Oliver, C., Platte, R., Evans, D. G., Lalloo, F., Eeles, R., Izatt, L., Davidson, R., Chu, C., Eccles, D., Cole, T., Hodgson, S., Godwin, A. K., Stoppa-Lyonnet, D., Buecher, B., Léoné, M., Bressac-de Paillerets, B., Remenieras, A., Caron, O., Lenoir, G. M., Sevenet, N., Longy, M., Ferrer, S. F., Prieur, F., Goldgar, D., Miron, A., John, E. M., Buys, S. S., Daly, M. B., Hopper, J. L., Terry, M. B., Yassin, Y., Singer, C., Gschwantler-Kaulich, D., Staudigl, C., Hansen, T. V. O., Barkardottir, R. B., Kirchhoff, T., Pal, P., Kosarin, K., Offit, K., Piedmonte, M., Rodriguez, G. C., Wakeley, K., Boggess, J. F., Basil, J., Schwartz, P. E., Blank, S. V., Toland, A. E., Montagna, M., Casella, C., Imyanitov, E. N., Allavena, A., Schmutzler, R. K., Versmold, B., Engel, C., Meindl, A., Ditsch, N., Arnold, N., Niederacher, D., Deißler, H., Fiebig, B., Suttner, C., Schönbuchner, I., Gadzicki, D., Caldes, T., de la Hoya, M., Pooley, K. A., Easton, D. F. & Chenevix-Trench, G., 2009, In : Human Molecular Genetics. 18, 22, p. 4442-4456 15 p.

Research output: Contribution to journalArticle

Breast Neoplasms
Mutation
Single Nucleotide Polymorphism
Alleles
Population
19 Citations (Scopus)

Common variants of the BRCA1 wild-type allele modify the risk of breast cancer in BRCA1 mutation carriers

Cox, D. G., Simard, J., Sinnett, D., Hamdi, Y., Soucy, P., Ouimet, M., Barjhoux, L., Verny-Pierre, C., McGuffog, L., Healey, S., Szabo, C., Greene, M. H., Mai, P. L., Andrulis, I. L., Glendon, G., Selander, T., Weerasooriya, N., Thomassen, M., Gerdes, A. M., Caligo, M. A. & 307 others, Friedman, E., Laitman, Y., Kaufman, B., Paluch, S. S., Borg, Å., Karlsson, P., Askmalm, M. S., Bustinza, G. B., Nathanson, K. L., Domchek, S. M., Rebbeck, T. R., Benítez, J., Hamann, U., Rookus, M. A., van den Ouweland, A. M. W., Ausems, M. G. E. M., Aalfs, C. M., van Asperen, C. J., Devilee, P., Gille, H. J. J. P., Peock, S., Frost, D., Evans, D. G., Eeles, R., Izatt, L., Adlard, L., Paterson, J., Eason, J., Godwin, A. K., Remon, M. A., Moncoutier, V., Gauthier-Villars, M., Lasset, C., Giraud, S., Hardouin, A., Berthet, P., Sobol, H., Eisinger, F., de Paillerets, B. B., Caron, O., Delnatte, C., Goldgar, D., Miron, A., Ozcelik, H., Buys, S., Southey, M. C., Terry, M. B., Singer, C. F., Dressler, A. C., Tea, M. K., Hansen, T. V. O., Johannsson, O., Piedmonte, M., Rodriguez, G. C., Basil, J. B., Blank, S., Toland, A. E., Montagna, M., Isaacs, C., Blanco, I., Gayther, S. A., Moysich, K. B., Schmutzler, R. K., Wappenschmidt, B., Engel, C., Meindl, A., Ditsch, N., Arnold, N., Niederacher, D., Sutter, C., Gadzicki, D., Fiebig, B., Caldes, T., Laframboise, R., Nevanlinna, H., Chen, X., Beesley, J., Spurdle, A. B., Neuhausen, S. L., Ding, Y. C., Couch, F. J., Wang, X., Peterlongo, P., Manoukian, S., Bernard, L., Radice, P., Easton, D. F., Chenevix-Trench, G., Antoniou, A. C., Stoppa-Lyonnet, D., Mazoyer, S., Sinilnikova, O. M., Karlsson, P., Nordling, M., Bergman, A., Einbeigi, Z., Stenmark-Askmalm, M., Liedgren, S., Borg, Å., Loman, N., Olsson, H., Kristoffersson, U., Soller, M., Jernström, H., Harbst, K., Henriksson, K., Lindblom, A., Arver, B., von Wachenfeldt, A., Liljegren, A., Barbany-Bustinza, G., Rantala, J., Melin, B., Grönberg, H., Stattin, E. L., Emanuelsson, M., Ehrencrona, H., Brandell, R. R., Dahl, N., Hogervorst, F. B. L., Verhoef, S., Verheus, M., van't Veer, L. J., van Leeuwen, F. E., Rookus, M. A., Collée, M., van den Ouweland, A. M. W., Jager, A., Hooning, M. J., Tilanus-Linthorst, M. M. A., Seynaeve, C., van Asperen, C. J., Wijnen, J. T., Vreeswijk, M. P., Tollenaar, R. A., Devilee, P., Ligtenberg, M. J., Hoogerbrugge, N., Ausems, M. G., van der Luijt, R. B., Aalfs, C. M., van Os, T. A., Gille, J. J. P., Waisfisz, Q., Meijers-Heijboer, H. E. J., Gomez-Garcia, E. B., van Roozendaal, C. E., Blok, M. J., Caanen, B., Oosterwijk, J. C., van der Hout, A. H., Mourits, M. J., Vasen, H. F., Peock, S., Cook, M., Frost, D., Platte, R., Miedzybrodzka, Z., Gregory, H., Morrison, P., Jeffers, L., Cole, T., Ong, K. R., Hoffman, J., Donaldson, A., James, M., Paterson, J., Downing, S., Taylor, A., Murray, A., Rogers, M. T., McCann, E., Kennedy, M. J., Barton, D., Porteous, M., Drummond, S., Brewer, C., Kivuva, E., Searle, A., Goodman, S., Hill, K., Davidson, R., Murday, V., Bradshaw, N., Snadden, L., Longmuir, M., Watt, C., Gibson, S., Haque, E., Tobias, E., Duncan, A., Izatt, L., Jacobs, C., Langman, C., Whaite, A., Dorkins, H., Barwell, J., Adlard, J., Chu, C., Miller, J., Ellis, I., Houghton, C., Evans, D. G., Lalloo, F., Taylor, J., Side, L., Male, A., Berlin, C., Eason, J., Collier, R., Douglas, F., Claber, O., Jobson, I., Walker, L., McLeod, D., Halliday, D., Durell, S., Stayner, B., Eeles, R., Shanley, S., Rahman, N., Houlston, R., Bancroft, E., D'Mello, L., Page, E., Ardern-Jones, A., Kohut, K., Wiggins, J., Castro, E., Mitra, A., Robertson, L., Cook, J., Quarrell, O., Bardsley, C., Hodgson, S., Goff, S., Brice, G., Winchester, L., Eddy, C., Tripathi, V., Attard, V., Eccles, D., Lucassen, A., Crawford, G., McBride, D., Smalley, S., Sinilnikova, O., Barjhoux, L., Verny-Pierre, C., Giraud, S., Léone, M., Mazoyer, S., Stoppa-Lyonnet, D., Gauthier-Villars, M., Buecher, B., Houdayer, C., Moncoutier, V., Belotti, M., Tirapo, C., de Pauw, A., Bressac-de-Paillerets, B., Remenieras, A., Byrde, V., Caron, O., Lenoir, G., Bignon, Y. J., Uhrhammer, N., Lasset, C., Bonadona, V., Hardouin, A., Berthet, P., Sobol, H., Bourdon, V., Noguchi, T., Eisinger, F., Coulet, F., Colas, C., Soubrier, F., Coupier, I., Pujol, P., Peyrat, J. P., Fournier, J., Révillion, F., Vennin, P., Adenis, C., Rouleau, E., Lidereau, R., Demange, L., Nogues, C., Muller, D., Fricker, J. P., Longy, M., Sevenet, N., Toulas, C., Guimbaud, R., Gladieff, L., Feillel, V., Leroux, D., Dreyfus, H., Rebischung, C., Coron, F., Faivre, L., Prieur, F., Lebrun, M., Ferrer, S. F., Frénay, M. & Vénat-Bouvet, L., Dec 2011, In : Human Molecular Genetics. 20, 23, p. 4732-4747 16 p., ddr388.

Research output: Contribution to journalArticle

Alleles
Breast Neoplasms
Mutation
BRCA1 Gene
Haplotypes
16 Citations (Scopus)

Complementary molecular approaches reveal heterogeneous CDH1 germline defects in Italian patients with hereditary diffuse gastric cancer (HDGC) syndrome

Molinaro, V., Pensotti, V., Marabelli, M., Feroce, I., Barile, M., Pozzi, S., Laghi, L., Serrano, D., Bernard, L., Bonanni, B. & Ranzani, G. N., 2014, In : Genes Chromosomes and Cancer. 53, 5, p. 432-445 14 p.

Research output: Contribution to journalArticle

Stomach Neoplasms
Genetic Testing
Gastrectomy
Breast Neoplasms
Allelic Imbalance
22 Citations (Scopus)

Contribution of germline mutations in the BRCA and PALB2 genes to pancreatic cancer in Italy

Ghiorzo, P., Pensotti, V., Fornarini, G., Sciallero, S., Battistuzzi, L., Belli, F., Bonelli, L., Borgonovo, G., Bruno, W., Gozza, A., Gargiulo, S., Mastracci, L., Nasti, S., Palmieri, G., Papadia, F., Pastorino, L., Russo, A., Savarino, V., Varesco, L., Bernard, L. & 1 others, Bianchi Scarrà, G., Mar 2012, In : Familial Cancer. 11, 1, p. 41-47 7 p.

Research output: Contribution to journalArticle

Germ-Line Mutation
Pancreatic Neoplasms
Italy
Adenocarcinoma
Genes
50 Citations (Scopus)

Cytoplasmic localization of NPM in myeloid leukemias is dictated by gain-of-function mutations that create a functional nuclear export signal

Mariano, A. R., Colombo, E., Luzi, L., Martinelli, P., Volorio, S., Bernard, L., Meani, N., Bergomas, R., Alcalay, M. & Pelicci, P. G., Jul 20 2006, In : Oncogene. 25, 31, p. 4376-4380 5 p.

Research output: Contribution to journalArticle

Nuclear Export Signals
Myeloid Leukemia
Mutation
Exons
Acute Myeloid Leukemia
108 Citations (Scopus)

Delocalization and destabilization of the Arf tumor suppressor by the leukemia-associated NPM mutant

Colombo, E., Martinelli, P., Zamponi, R., Shing, D. C., Bonetti, P., Luzi, L., Volorio, S., Bernard, L., Pruneri, G., Alcalay, M. & Pelicci, P. G., Mar 15 2006, In : Cancer Research. 66, 6, p. 3044-3050 7 p.

Research output: Contribution to journalArticle

Leukemia
Acute Myeloid Leukemia
Neoplasms
Centrosome
Mutation
30 Citations (Scopus)

Differentiation-associated microRNAs antagonize the Rb-E2F pathway to restrict proliferation

Marzi, M. J., Puggioni, E. M. R., Dall'Olio, V., Bucci, G., Bernard, L., Bianchi, F., Crescenzi, M., Di Fiore, P. P. & Nicassio, F., Oct 1 2012, In : Journal of Cell Biology. 199, 1, p. 77-95 19 p.

Research output: Contribution to journalArticle

MicroRNAs
Messenger RNA
Skeletal Muscle Fibers
Oncogenes
Cell Cycle
1 Citation (Scopus)

Erratum: Acute promyelocytic leukemias share cooperative mutations with other myeloid-leukemia subgroups (Blood Cancer Journal (2013) 3 (e147) DOI:10.1038/bcj.2013.46)

Riva, L., Ronchini, C., Bodini, M., Lo-Coco, F., Lavorgna, S., Ottone, T., Martinelli, G., Iacobucci, I., Tarella, C., Cignetti, A., Volorio, S., Bernard, L., Russo, A., Melloni, G. E. M., Luzi, L., Alcalay, M., Dellino, G. I. & Pelicci, P. G., 2014, In : Blood Cancer Journal. 4, 3, e195.

Research output: Contribution to journalArticle

3 Citations (Scopus)

Evaluation of variation in the phosphoinositide-3-kinase catalytic subunit alpha oncogene and breast cancer risk

Stevens, K. N., Garcia-Closas, M., Fredericksen, Z., Kosel, M., Pankratz, V. S., Hopper, J. L., Dite, G. S., Apicella, C., Southey, M. C., Schmidt, M. K., Broeks, A., Van T Veer, L. J., Tollenaar, R. A. E. M., Fasching, P. A., Beckmann, M. W., Hein, A., Ekici, A. B., Johnson, N., Peto, J., Dos Santos Silva, I. & 81 others, Gibson, L., Sawyer, E., Tomlinson, I., Kerin, M. J., Chanock, S., Lissowska, J., Hunter, D. J., Hoover, R. N., Thomas, G. D., Milne, R. L., Pérez, J. A., González-Neira, A., Benítez, J., Burwinkel, B., Meindl, A., Schmutzler, R. K., Bartrar, C. R., Hamann, U., Ko, Y. D., Brüning, T., Chang-Claude, J., Hein, R., Wang-Gohrke, S., Dörk, T., Schürmann, P., Bremer, M., Hillemanns, P., Bogdanova, N., Zalutsky, J. V., Rogov, Y. I., Antonenkova, N., Lindblom, A., Margolin, S., Mannermaa, A., Kataja, V., Kosma, V. M., Hartikainen, J., Chenevix-Trench, G., Chen, X., Peterlongo, P., Bonanni, B., Bernard, L., Manoukian, S., Wang, X., Cerhan, J., Vachon, C. M., Olson, J., Giles, G. G., Baglietto, L., McLean, C. A., Severi, G., John, E. M., Miron, A., Winqvist, R., Pylkäs, K., Jukkola-Vuorinen, A., Grip, M., Andrulis, I., Knight, J. A., Glendon, G., Mulligan, A. M., Cox, A., Brock, I. W., Elliott, G., Cross, S. S., Pharoah, P. P., Dunning, A. M., Pooley, K. A., Humphreys, M. K., Wang, J., Kang, D., Yoo, K. Y., Noh, D. Y., Sangrajrang, S., Gabrieau, V., Brennan, P., McKay, J., Anton-Culver, H., Ziogas, A., Couch, F. J. & Easton, D. F., Dec 6 2011, In : British Journal of Cancer. 105, 12, p. 1934-1939 6 p.

Research output: Contribution to journalArticle

1-Phosphatidylinositol 4-Kinase
Oncogenes
Catalytic Domain
Breast Neoplasms
Genetic Predisposition to Disease
8 Citations (Scopus)

Evidence for a link between TNFRSF11A and risk of breast cancer

Bonifaci, N., Palafox, M., Pellegrini, P., Osorio, A., Benítez, J., Peterlongo, P., Manoukian, S., Peissel, B., Zaffaroni, D., Roversi, G., Barile, M., Viel, A., Mariette, F., Bernard, L., Radice, P., Kaufman, B., Laitman, Y., Milgrom, R., Friedman, E., Sáez, M. E. & 17 others, Climent, F., Soler, M. T., Diez, O., Balmaña, J., Lasa, A., Ramón Y Cajal, T., Miramar, M. D., De La Hoya, M., Pérez-Segura, P., Caldés, T., Moreno, V., Urruticoechea, A., Brunet, J., Lázaro, C., Blanco, I., Pujana, M. A. & González-Suárez, E., Oct 2011, In : Breast Cancer Research and Treatment. 129, 3, p. 947-954 8 p.

Research output: Contribution to journalArticle

Breast Neoplasms
Mutation
Confidence Intervals
Receptor Activator of Nuclear Factor-kappa B
Stem Cells
12 Citations (Scopus)

Exploring the link between MORF4L1 and risk of breast cancer

Martrat, G., Maxwell, C. A., Tominaga, E., Porta-de-la-Riva, M., Bonifaci, N., Gómez-Baldó, L., Bogliolo, M., Lázaro, C., Blanco, I., Brunet, J., Aguilar, H., Fernández-Rodríguez, J., Seal, S., Renwick, A., Rahman, N., Kühl, J., Neveling, K., Schindler, D., Ramírez, M. J., Castellà, M. & 108 others, Hernández, G., Easton, D. F., Peock, S., Cook, M., Oliver, C. T., Frost, D., Platte, R., Evans, D. G., Lalloo, F., Eeles, R., Izatt, L., Chu, C., Davidson, R., Ong, K. R., Cook, J., Douglas, F., Hodgson, S., Brewer, C., Morrison, P. J., Porteous, M., Peterlongo, P., Manoukian, S., Peissel, B., Zaffaroni, D., Roversi, G., Barile, M., Viel, A., Pasini, B., Ottini, L., Putignano, A. L., Savarese, A., Bernard, L., Radice, P., Healey, S., Spurdle, A., Chen, X., Beesley, J., Rookus, M. A., Verhoef, S., Tilanus-Linthorst, M. A., Vreeswijk, M. P., Asperen, C. J., Bodmer, D., Ausems, M. G. E. M., van Os, T. A., Blok, M. J., Meijers-Heijboer, H. E. J., Hogervorst, F. B. L., Goldgar, D. E., Buys, S., John, E. M., Miron, A., Southey, M., Daly, M. B., Harbst, K., Borg, Å., Rantala, J., Barbany-Bustinza, G., Ehrencrona, H., Stenmark-Askmalm, M., Kaufman, B., Laitman, Y., Milgrom, R., Friedman, E., Domchek, S. M., Nathanson, K. L., Rebbeck, T. R., Johannsson, O. T., Couch, F. J., Wang, X., Fredericksen, Z., Cuadras, D., Moreno, V., Pientka, F. K., Depping, R., Caldés, T., Osorio, A., Benítez, J., Bueren, J., Heikkinen, T., Nevanlinna, H., Hamann, U., Torres, D., Caligo, M. A., Godwin, A. K., Imyanitov, E. N., Janavicius, R., Sinilnikova, O. M., Stoppa-Lyonnet, D., Mazoyer, S., Verny-Pierre, C., Castera, L., De Pauw, A., Bignon, Y. J., Uhrhammer, N., Peyrat, J. P., Vennin, P., Ferrer, S. F., Collonge-Rame, M. A., Mortemousque, I., McGuffog, L., Chenevix-Trench, G., Pereira-Smith, O. M., Antoniou, A. C., Cerón, J., Tominaga, K., Surrallés, J. & Pujana, M. A., Apr 5 2011, In : Breast Cancer Research. 13, 2, R40.

Research output: Contribution to journalArticle

Breast Neoplasms
Mutation
Caenorhabditis elegans
Fanconi Anemia
Fanconi Anemia Complementation Group Proteins
106 Citations (Scopus)

EYA4, a novel vertebrate gene related to Drosophila eyes absent

Borsani, G., DeGrandi, A., Ballabio, A., Bulfone, A., Bernard, L., Banfi, S., Gattuso, C., Mariani, M., Dixon, M., Donnai, D., Metcalfe, K., Winter, R., Robertson, M., Axton, R., Brown, A., Van Heyningen, V. & Hanson, I., 1999, In : Human Molecular Genetics. 8, 1, p. 11-23 13 p.

Research output: Contribution to journalArticle

Drosophila
Vertebrates
Genes
Amino Acids
Chromosomes, Human, Pair 10
42 Citations (Scopus)

FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor

Peterlongo, P., Catucci, I., Colombo, M., Caleca, L., Mucaki, E., Bogliolo, M., Marin, M., Damiola, F., Bernard, L., Pensotti, V., Volorio, S., Dall'Olio, V., Meindl, A., Bartram, C., Sutter, C., Surowy, H., Sornin, V., Dondon, M. G., Eon-Marchais, S., Stoppa-Lyonnet, D. & 76 others, Andrieu, N., Sinilnikova, O. M., Mitchell, G., James, P. A., Thompson, E., Marchetti, M., Verzeroli, C., Tartari, C., Capone, G. L., Putignano, A. L., Genuardi, M., Medici, V., Marchi, I., Federico, M., Tognazzo, S., Matricardi, L., Agata, S., Dolcetti, R., Puppa, L. D., Cini, G., Gismondi, V., Viassolo, V., Perfumo, C., Mencarelli, M. A., Baldassarri, M., Peissel, B., Roversi, G., Silvestri, V., Rizzolo, P., Spina, F., Vivanet, C., Tibiletti, M. G., Caligo, M. A., Gambino, G., Tommasi, S., Pilato, B., Tondini, C., Corna, C., Bonanni, B., Barile, M., Osorio, A., Benitez, J., Balestrino, L., Ottini, L., Manoukian, S., Pierotti, M. A., Renieri, A., Varesco, L., Couch, F. J., Wang, X., Devilee, P., Hilbers, F. S., van Asperen, C. J., Viel, A., Montagna, M., Cortesi, L., Diez, O., Balmaña, J., Hauke, J., Schmutzler, R. K., Papi, L., Pujana, M. A., Lázaro, C., Falanga, A., Offit, K., Vijai, J., Campbell, I., Burwinkel, B., Kvist, A., Ehrencrona, H., Mazoyer, S., Pizzamiglio, S., Verderio, P., Surralles, J., Rogan, P. K. & Radice, P., Apr 9 2015, In : Human Molecular Genetics. 24, 18, p. 5345-5355 11 p., ddv251.

Research output: Contribution to journalArticle

Nonsense Codon
DNA Repair
Exons
Odds Ratio
Breast Neoplasms
13 Citations (Scopus)

Fine-scale mapping of the 4q24 locus identifies & pr two Independent loci associated with breast cancer risk

Guo, X., Long, J., Zeng, C., Michailidou, K., Ghoussaini, M., Bolla, M. K., Wang, Q., Milne, R. L., Shu, X. O., Cai, Q., Beesley, J., Kar, S. P., Andrulis, I. L., Anton-Culver, H., Arndt, V., Beckmann, M. W., Beeghly-Fadiel, A., Benitez, J., Blot, W., Bogdanova, N. & 262 others, Bojesen, S. E., Brauch, H., Brenner, H., Brinton, L., Broekss, A., Bruning, T., Burwinkel, B., Cai, H., Canisius, S., Chang-Claude, J., Choi, J. Y., Couch, F. J., Cox, A., Cross, S. S., Czene, K., Darabi, H., Devilee, P., Droit, A., Dork, T., Fasching, P. A., Fletcher, O., Flyger, H., Fostira, F., Gaborieau, V., García-Closas, M., Giles, G. G., Grip, M., Guenel, P., Haiman, C. A., Hamann, U., Hartman, M., Hollestelle, A., Hopper, J. L., Hsiung, C. N., Ito, H., Jakubowska, A., Johnson, N., Kabisch, M., Kang, D., Khan, S., Knight, J. A., Kosma, V. M., Lambrechts, D., Le Marchand, L., Li, J., Lindblom, A., Lophatananon, A., Lubinski, J., Mannermaa, A., Manoukian, S., Margolin, S., Marme, F., Matsuo, K., McLean, C. A., Meindl, A., Muir, K., Neuhausen, S. L., Nevanlinna, H., Nord, S., Olson, J. E., Orr, N., Peterlongo, P., Putti, T. C., Rudolph, A., Sangrajrang, S., Sawyer, E. J., Schmidt, M. K., Schmutzler, R. K., Shen, C. Y., Shi, J., Shrubsole, M. J., Southey, M. C., Swerdlow, A., Teo, S. H., Thienpont, B., Toland, A. E., Tollenaar, R. A. E. M., Tomlinson, I. P. M., Truong, T., Tseng, C. C., Van Den Ouweland, A., Wen, W., Winqvist, R., Wu, A., Yip, C. H., Zamora, M. P., Zheng, Y., Hall, P., Pharoah, P. D. P., Simard, J., Chenevix-Trench, G., Dunning, A. M., Easton, D. F., Zheng, W., Eeles, R. A., Al Olama, A. A., Kote-Jarai, Z., Benlloch, S., Antoniou, A., McGuffog, L., Offit, K., Lee, A., Dicks, E., Luccarini, C., Tessier, D. C., Bacot, F., Vincent, D., La Boissière, S., Robidoux, F., Nielsen, S. F., Cunningham, J. M., Windebank, S. A., Hilker, C. A., Meyer, J., Angelakos, M., Maskiell, J., Van Der Schoot, E., Rutgers, E., Verhoef, S., Hogervorst, F., Boonyawongviroj, P., Siriwanarungsan, P., Schrauder, M., Rübner, M., Oeser, S., Landrith, S., Williams, E., Ryder-Mills, E., Sargus, K., McInerney, N., Colleran, G., Rowan, A., Jones, A., Sohn, C., Schneeweiß, A., Bugert, P., Álvarez, N., Bernstein, L., Lacey, J., Wang, S., Ma, H., Lu, Y., Clague De Hart, J., Deapen, D., Pinder, R., Lee, E., Schumacher, F., Horn-Ross, P., Reynolds, P., Nelson, D., Park, H., Ziegler, H., Wolf, S., Hermann, V., Lo, W. Y., Justenhoven, C., Ko, Y. D., Baisch, C., Fischer, H. P., Pesch, B., Rabstein, S., Lotz, A., Harth, V., Heikkinen, T., Erkkilä, I., Aaltonen, K., Von Smitten, K., Antonenkova, N., Hillemanns, P., Christiansen, H., Myöhänen, E., Kemiläinen, H., Thorne, H., Niedermayr, E., Bowtell, D., Chenevix-Trench, G., De Fazio, A., Gertig, D., Green, A., Webb, P., Green, A., Parsons, P., Hayward, N., Webb, P., Whiteman, D., Fung, A., Yashiki, J., Peuteman, G., Smeets, D., Van Brussel, T., Corthouts, K., Obi, N., Heinz, J., Behrens, S., Eilber, U., Celik, M., Olchers, T., Peissel, B., Scuvera, G., Zaffaroni, D., Bonanni, B., Feroce, I., Maniscalco, A., Rossi, A., Bernard, L., Tranchant, M., Valois, M. F., Turgeon, A., Heguy, L., Yee, P. S., Kang, P., Nee, K. I., Mariapun, S., Sook-Yee, Y., Lee, D., Ching, T. Y., Taib, N. A. M., Otsukka, M., Mononen, K., Selander, T., Weerasooriya, N., Krol-Warmerdam, E., Molenaar, J., Blom, J., Szeszenia-Dabrowska, N., Peplonska, B., Zatonski, W., Chao, P., Stagner, M., Bos, P., Blom, J., Crepin, E., Nieuwlaat, A., Heemskerk, A., Higham, S., Cramp, H., Connley, D., Balasubramanian, S., Brock, I., Kerin, M., Miller, N., Kerbrat, P., Arveux, P., Le Scodan, R., Raoul, Y., Laurent-Puig, P., Mulot, C., Stegmaier, C., Butterbach, K., Karstens, J. H., Flesch-Janys, D., Seibold, P., Vrieling, A., Nickels, S., Radice, P., Pylkäs, K., Jukkola-Vuorinen, A., Kauppila, S., Conroy, D., Baynes, C., Chua, K. & Pilarski, R., Nov 1 2015, In : Cancer Epidemiology Biomarkers and Prevention. 24, 11, p. 1680-1691 12 p.

Research output: Contribution to journalArticle

Breast Neoplasms
Confidence Intervals
Encyclopedias
Atlases
Deoxyribonuclease I
58 Citations (Scopus)

Fine-scale mapping of the FGFR2 breast cancer risk locus: Putative functional variants differentially bind FOXA1 and E2F1

Meyer, K. B., O'Reilly, M., Michailidou, K., Carlebur, S., Edwards, S. L., French, J. D., Prathalingham, R., Dennis, J., Bolla, M. K., Wang, Q., De Santiago, I., Hopper, J. L., Tsimiklis, H., Apicella, C., Southey, M. C., Schmidt, M. K., Broeks, A., Van 't Veer, L. J., Hogervorst, F. B., Muir, K. & 180 others, Lophatananon, A., Stewart-Brown, S., Siriwanarangsan, P., Fasching, P. A., Lux, M. P., Ekici, A. B., Beckmann, M. W., Peto, J., Dos Santos Silva, I., Fletcher, O., Johnson, N., Sawyer, E. J., Tomlinson, I., Kerin, M. J., Miller, N., Marme, F., Schneeweiss, A., Sohn, C., Burwinkel, B., Guénel, P., Truong, T., Laurent-Puig, P., Menegaux, F., Bojesen, S. E., Nordestgaard, B. G., Nielsen, S. F., Flyger, H., Milne, R. L., Zamora, M. P., Arias, J. I., Benitez, J., Neuhausen, S., Anton-Culver, H., Ziogas, A., Dur, C. C., Brenner, H., Müller, H., Arndt, V., Stegmaier, C., Meindl, A., Schmutzler, R. K., Engel, C., Ditsch, N., Brauch, H., Brüning, T., Ko, Y. D., Nevanlinna, H., Muranen, T. A., Aittomäki, K., Blomqvist, C., Matsuo, K., Ito, H., Iwata, H., Yatabe, Y., Dörk, T., Helbig, S., Bogdanova, N. V., Lindblom, A., Margolin, S., Mannermaa, A., Kataja, V., Kosma, V. M., Hartikainen, J. M., Chenevix-Trench, G., Wu, A. H., Tseng, C. C., Van Den Berg, D., Stram, D. O., Lambrechts, D., Thienpont, B., Christiaens, M. R., Smeets, A., Chang-Claude, J., Rudolph, A., Seibold, P., Flesch-Janys, D., Radice, P., Peterlongo, P., Bonanni, B., Bernard, L., Couch, F. J., Olson, J. E., Wang, X., Purrington, K., Giles, G. G., Severi, G., Baglietto, L., Mclean, C., Haiman, C. A., Henderson, B. E., Schumacher, F., Le Marchand, L., Simard, J., Goldberg, M. S., Labrèche, F., Dumont, M., Teo, S. H., Yip, C. H., Phuah, S. Y., Kristensen, V., Grenaker Alnæs, G., Børresen-Dale, A. L., Zheng, W., Deming-Halverson, S., Shrubsole, M., Long, J., Winqvist, R., Pylkäs, K., Jukkola-Vuorinen, A., Kauppila, S., Andrulis, I. L., Knight, J. A., Glendon, G., Tchatchou, S., Devilee, P., Tollenaar, R. A. E. M., Seynaeve, C. M., García-Closas, M., Figueroa, J., Chanock, S. J., Lissowska, J., Czene, K., Darabi, H., Eriksson, K., Hooning, M. J., Martens, J. W. M., Van Den Ouweland, A. M. W., Van Deurzen, C. H. M., Hall, P., Li, J., Liu, J., Humphreys, K., Shu, X. O., Lu, W., Gao, Y. T., Cai, H., Cox, A., Reed, M. W. R., Blot, W., Signorello, L. B., Cai, Q., Pharoah, P. D. P., Ghoussaini, M., Harrington, P., Tyrer, J., Kang, D., Choi, J. Y., Park, S. K., Noh, D. Y., Hartman, M., Hui, M., Lim, W. Y., Buhari, S. A., Hamann, U., Försti, A., Rüdiger, T., Ulmer, H. U., Jakubowska, A., Lubinski, J., Jaworska, K., Durda, K., Sangrajrang, S., Gaborieau, V., Brennan, P., Mckay, J., Vachon, C., Slager, S., Fostira, F., Pilarski, R., Shen, C. Y., Hsiung, C. N., Wu, P. E., Hou, M. F., Swerdlow, A., Ashworth, A., Orr, N., Schoemaker, M. J., Ponder, B. A. J., Dunning, A. M. & Easton, D. F., Dec 5 2013, In : American Journal of Human Genetics. 93, 6, p. 1046-1060 15 p.

Research output: Contribution to journalArticle

Breast Neoplasms
Alleles
Estrogen Receptors
Chromatin
Single Nucleotide Polymorphism
18 Citations (Scopus)

First description of an acinic cell carcinoma of the breast in a BRCA1 mutation carrier: A case report

Ripamonti, C. B., Colombo, M., Mondini, P., Siranoush, M., Peissel, B., Bernard, L., Radice, P. & Carcangiu, M. L., Feb 1 2013, In : BMC Cancer. 13, 46.

Research output: Contribution to journalArticle

Acinar Cell Carcinoma
Breast
Mutation
Ductal Carcinoma
Medullary Carcinoma
261 Citations (Scopus)

Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer

Michailidou, K., Beesley, J., Lindstrom, S., Canisius, S., Dennis, J., Lush, M. J., Maranian, M. J., Bolla, M. K., Wang, Q., Shah, M., Perkins, B. J., Czene, K., Eriksson, M., Darabi, H., Brand, J. S., Bojesen, S. E., Nordestgaard, B. G., Flyger, H., Nielsen, S. F., Rahman, N. & 223 others, Turnbull, C., Fletcher, O., Peto, J., Gibson, L., Dos-Santos-Silva, I., Chang-Claude, J., Flesch-Janys, D., Rudolph, A., Eilber, U., Behrens, S., Nevanlinna, H., Muranen, T. A., Aittomäki, K., Blomqvist, C., Khan, S., Aaltonen, K., Ahsan, H., Kibriya, M. G., Whittemore, A. S., John, E. M., Malone, K. E., Gammon, M. D., Santella, R. M., Ursin, G., Makalic, E., Schmidt, D. F., Casey, G., Hunter, D. J., Gapstur, S. M., Gaudet, M. M., Diver, W. R., Haiman, C. A., Schumacher, F., Henderson, B. E., Le Marchand, L., Berg, C. D., Chanock, S. J., Figueroa, J., Hoover, R. N., Lambrechts, D., Neven, P., Wildiers, H., Van Limbergen, E., Schmidt, M. K., Broeks, A., Verhoef, S., Cornelissen, S., Couch, F. J., Olson, J. E., Hallberg, E., Vachon, C., Waisfisz, Q., Meijers-Heijboer, H., Adank, M. A., Van Der Luijt, R. B., Li, J., Liu, J., Humphreys, K., Kang, D., Choi, J. Y., Park, S. K., Yoo, K. Y., Matsuo, K., Ito, H., Iwata, H., Tajima, K., Guénel, P., Truong, T., Mulot, C., Sanchez, M., Burwinkel, B., Marme, F., Surowy, H., Sohn, C., Wu, A. H., Tseng, C. C., Van Den Berg, D., Stram, D. O., González-Neira, A., Benitez, J., Pilar Zamora, M., Perez, J. I. A., Shu, X. O., Lu, W., Gao, Y. T., Cai, H., Cox, A., Cross, S. S., Reed, M. W. R., Andrulis, I. L., Knight, J. A., Glendon, G., Mulligan, A. M., Sawyer, E. J., Tomlinson, I., Kerin, M. J., Miller, N., Lindblom, A., Margolin, S., Teo, S. H., Yip, C. H., Taib, N. A. M., Tan, G. H., Hooning, M. J., Hollestelle, A., Martens, J. W. M., Margriet Collée, J., Blot, W., Signorello, L. B., Cai, Q., Hopper, J. L., Southey, M. C., Tsimiklis, H., Apicella, C., Shen, C. Y., Hsiung, C. N., Wu, P. E., Hou, M. F., Kristensen, V. N., Nord, S., Alnaes, G. I. G., Giles, G. G., Milne, R. L., McLean, C., Canzian, F., Trichopoulos, D., Peeters, P., Lund, E., Sund, M., Khaw, K. T., Gunter, M. J., Palli, D., Mortensen, L. M., Dossus, L., Huerta, J. M., Meindl, A., Schmutzler, R. K., Sutter, C., Yang, R., Muir, K., Lophatananon, A., Stewart-Brown, S., Siriwanarangsan, P., Hartman, M., Miao, H., Chia, K. S., Chan, C. W., Fasching, P. A., Hein, A., Beckmann, M. W., Haeberle, L., Brenner, H., Dieffenbach, A. K., Arndt, V., Stegmaier, C., Ashworth, A., Orr, N., Schoemaker, M. J., Swerdlow, A. J., Brinton, L., Garcia-Closas, M., Zheng, W., Halverson, S. L., Shrubsole, M., Long, J., Goldberg, M. S., Labrèche, F., Dumont, M., Winqvist, R., Pylkäs, K., Jukkola-Vuorinen, A., Grip, M., Brauch, H., Hamann, U., Brüning, T., Radice, P., Peterlongo, P., Manoukian, S., Bernard, L., Bogdanova, N. V., Dörk, T., Mannermaa, A., Kataja, V., Kosma, V. M., Hartikainen, J. M., Devilee, P., Tollenaar, R. A. E. M., Seynaeve, C., Van Asperen, C. J., Jakubowska, A., Lubinski, J., Jaworska, K., Huzarski, T., Sangrajrang, S., Gaborieau, V., Brennan, P., McKay, J., Slager, S., Toland, A. E., Ambrosone, C. B., Yannoukakos, D., Kabisch, M., Torres, D., Neuhausen, S. L., Anton-Culver, H., Luccarini, C., Baynes, C., Ahmed, S., Healey, C. S., Tessier, D. C., Vincent, D., Bacot, F., Pita, G., Alonso, M. R., Álvarez, N., Herrero, D., Simard, J., Pharoah, P. P. D. P., Kraft, P., Dunning, A. M., Chenevix-Trench, G., Hall, P. & Easton, D. F., Apr 28 2015, In : Nature Genetics. 47, 4, p. 373-380 8 p.

Research output: Contribution to journalArticle

Genome-Wide Association Study
Breast Neoplasms
Chromatin
Amino Acid Substitution
Single Nucleotide Polymorphism
260 Citations (Scopus)

Genome-wide association studies identify four ER negative-specific breast cancer risk loci

Garcia-Closas, M., Couch, F. J., Lindstrom, S., Michailidou, K., Schmidt, M. K., Brook, M. N., Orr, N., Rhie, S. K., Riboli, E., Feigelson, H. S., Le Marchand, L., Buring, J. E., Eccles, D., Miron, P., Fasching, P. A., Brauch, H., Chang-Claude, J., Carpenter, J., Godwin, A. K., Nevanlinna, H. & 250 others, Giles, G. G., Cox, A., Hopper, J. L., Bolla, M. K., Wang, Q., Dennis, J., Dicks, E., Howat, W. J., Schoof, N., Bojesen, S. E., Lambrechts, D., Broeks, A., Andrulis, I. L., Guénel, P., Burwinkel, B., Sawyer, E. J., Hollestelle, A., Fletcher, O., Winqvist, R., Brenner, H., Mannermaa, A., Hamann, U., Meindl, A., Lindblom, A., Zheng, W., Devillee, P., Goldberg, M. S., Lubinski, J., Kristensen, V., Swerdlow, A., Anton-Culver, H., Dörk, T., Muir, K., Matsuo, K., Wu, A. H., Radice, P., Teo, S. H., Shu, X. O., Blot, W., Kang, D., Hartman, M., Sangrajrang, S., Shen, C. Y., Southey, M. C., Park, D. J., Hammet, F., Stone, J., Veer, L. J. V. T., Rutgers, E. J., Lophatananon, A., Stewart-Brown, S., Siriwanarangsan, P., Peto, J., Schrauder, M. G., Ekici, A. B., Beckmann, M. W., Dos Santos Silva, I., Johnson, N., Warren, H., Tomlinson, I., Kerin, M. J., Miller, N., Marme, F., Schneeweiss, A., Sohn, C., Truong, T., Laurent-Puig, P., Kerbrat, P., Nordestgaard, B. G., Nielsen, S. F., Flyger, H., Milne, R. L., Perez, J. I. A., Menéndez, P., Müller, H., Arndt, V., Stegmaier, C., Lichtner, P., Lochmann, M., Justenhoven, C., Ko, Y. D., Muranen, T. A., Aittomäki, K., Blomqvist, C., Greco, D., Heikkinen, T., Ito, H., Iwata, H., Yatabe, Y., Antonenkova, N. N., Margolin, S., Kataja, V., Kosma, V. M., Hartikainen, J. M., Balleine, R., Tseng, C. C., Berg, D. V. D., Stram, D. O., Neven, P., Dieudonné, A. S., Leunen, K., Rudolph, A., Nickels, S., Flesch-Janys, D., Peterlongo, P., Peissel, B., Bernard, L., Olson, J. E., Wang, X., Stevens, K., Severi, G., Baglietto, L., McLean, C., Coetzee, G. A., Feng, Y., Henderson, B. E., Schumacher, F., Bogdanova, N. V., Labrèche, F., Dumont, M., Yip, C. H., Taib, N. A. M., Cheng, C. Y., Shrubsole, M., Long, J., Pylkäs, K., Jukkola-Vuorinen, A., Kauppila, S., Knight, J. A., Glendon, G., Mulligan, A. M., Tollenaar, R. A. E. M., Seynaeve, C. M., Kriege, M., Hooning, M. J., Van Den Ouweland, A. M. W., Van Deurzen, C. H. M., Lu, W., Gao, Y. T., Cai, H., Balasubramanian, S. P., Cross, S. S., Reed, M. W. R., Signorello, L., Cai, Q., Shah, M., Miao, H., Chan, C. W., Chia, K. S., Jakubowska, A., Jaworska, K., Durda, K., Hsiung, C. N., Wu, P. E., Yu, J. C., Ashworth, A., Jones, M., Tessier, D. C., González-Neira, A., Pita, G., Alonso, M. R., Vincent, D., Bacot, F., Ambrosone, C. B., Bandera, E. V., John, E. M., Chen, G. K., Hu, J. J., Rodriguez-Gil, J. L., Bernstein, L., Press, M. F., Ziegler, R. G., Millikan, R. M., Deming-Halverson, S. L., Nyante, S., Ingles, S. A., Waisfisz, Q., Tsimiklis, H., Makalic, E., Schmidt, D., Bui, M., Gibson, L., Müller-Myhsok, B., Schmutzler, R. K., Hein, R., Dahmen, N., Beckmann, L., Aaltonen, K., Czene, K., Irwanto, A., Liu, J., Turnbull, C., Rahman, N., Meijers-Heijboer, H., Uitterlinden, A. G., Rivadeneira, F., Olswold, C., Slager, S., Pilarski, R., Ademuyiwa, F., Konstantopoulou, I., Martin, N. G., Montgomery, G. W., Slamon, D. J., Rauh, C., Lux, M. P., Jud, S. M., Bruning, T., Weaver, J., Sharma, P., Pathak, H., Tapper, W., Gerty, S., Durcan, L., Trichopoulos, D., Tumino, R., Peeters, P. H., Kaaks, R., Campa, D., Canzian, F., Weiderpass, E., Johansson, M., Khaw, K. T., Travis, R., Clavel-Chapelon, F., Kolonel, L. N., Chen, C., Beck, A., Hankinson, S. E., Berg, C. D., Hoover, R. N., Lissowska, J., Figueroa, J. D., Chasman, D. I., Gaudet, M. M., Diver, W. R., Willett, W. C., Hunter, D. J., Simard, J., Benitez, J., Dunning, A. M., Sherman, M. E., Chenevix-Trench, G., Chanock, S. J., Hall, P., Pharoah, P. D. P., Vachon, C., Easton, D. F., Haiman, C. A. & Kraft, P., Apr 2013, In : Nature Genetics. 45, 4, p. 392-398 7 p.

Research output: Contribution to journalArticle

Genome-Wide Association Study
Estrogen Receptors
Breast Neoplasms
Neoplasms
Genetic Predisposition to Disease
23 Citations (Scopus)

Germline mutations in BRIP1 and PALB2 in Jewish high cancer risk families

Catucci, I., Milgrom, R., Kushnir, A., Laitman, Y., Paluch-Shimon, S., Volorio, S., Ficarazzi, F., Bernard, L., Radice, P., Friedman, E. & Peterlongo, P., Sep 2012, In : Familial Cancer. 11, 3, p. 483-491 9 p.

Research output: Contribution to journalArticle

Germ-Line Mutation
Breast Neoplasms
Neoplasms
Missense Mutation
Mutation
164 Citations (Scopus)

Identification and mapping of human cDNAs homologous to Drosophila mutant genes through EST database searching

Banfi, S., Borsani, G., Rossi, E., Bernard, L., Guffanti, A., Rubboli, F., Marchitiello, A., Giglio, S., Coluccia, E., Zollo, M., Zuffardi, O. & Ballabio, A., 1996, In : Nature Genetics. 13, 2, p. 167-174 8 p.

Research output: Contribution to journalArticle

Forensic Anthropology
Expressed Sequence Tags
Drosophila
Complementary DNA
Databases
33 Citations (Scopus)

Identification of fifteen novel germline variants in the BRCA1 3′UTR reveals a variant in a breast cancer case that introduces a functional miR-103 target site

Brewster, B. L., Rossiello, F., French, J. D., Edwards, S. L., Wong, M., Wronski, A., Whiley, P., Waddell, N., Chen, X., Bove, B., KconFab, N. V., Hopper, J. L., John, E. M., Andrulis, I., Daly, M., Volorio, S., Bernard, L., Peissel, B., Manoukian, S., Barile, M. & 8 others, Pizzamiglio, S., Verderio, P., Spurdle, A. B., Radice, P., Godwin, A. K., Southey, M. C., Brown, M. A. & Peterlongo, P., Dec 2012, In : Human Mutation. 33, 12, p. 1665-1675 11 p.

Research output: Contribution to journalArticle

Breast Neoplasms
Mutation
MicroRNAs
BRCA1 Gene
Untranslated Regions
131 Citations (Scopus)

Identification of six new susceptibility loci for invasive epithelial ovarian cancer

Kuchenbaecker, K. B., Ramus, S. J., Tyrer, J., Lee, A., Shen, H. C., Beesley, J., Lawrenson, K., McGuffog, L., Healey, S., Lee, J. M., Spindler, T. J., Lin, Y. G., Pejovic, T., Bean, Y., Li, Q., Coetzee, S., Hazelett, D., Miron, A., Southey, M., Terry, M. B. & 269 others, Goldgar, D. E., Buys, S. S., Janavicius, R., Dorfling, C. M., Van Rensburg, E. J., Neuhausen, S. L., Ding, Y. C., Hansen, T. V. O., Jønson, L., Gerdes, A. M., Ejlertsen, B., Barrowdale, D., Dennis, J., Benitez, J., Osorio, A., Garcia, M. J., Komenaka, I., Weitzel, J. N., Ganschow, P., Peterlongo, P., Bernard, L., Viel, A., Bonanni, B., Peissel, B., Manoukian, S., Radice, P., Papi, L., Ottini, L., Fostira, F., Konstantopoulou, I., Garber, J., Frost, D., Perkins, J., Platte, R., Ellis, S., Godwin, A. K., Schmutzler, R. K., Meindl, A., Engel, C., Sutter, C., Sinilnikova, O. M., Damiola, F., Mazoyer, S., Stoppa-Lyonnet, D., Claes, K., De Leeneer, K., Kirk, J., Rodriguez, G. C., Piedmonte, M., O'Malley, D. M., De La Hoya, M., Caldes, T., Aittomäki, K., Nevanlinna, H., Margriet, J. C., Rookus, M. A., Oosterwijk, J. C., Tihomirova, L., Tung, N., Hamann, U., Isaccs, C., Tischkowitz, M., Imyanitov, E. N., Caligo, M. A., Campbell, I. G., Hogervorst, F. B. L., Olah, E., Diez, O., Blanco, I., Brunet, J., Lazaro, C., Pujana, M. A., Jakubowska, A., Gronwald, J., Lubinski, J., Sukiennicki, G., Barkardottir, R. B., Plante, M., Simard, J., Soucy, P., Montagna, M., Tognazzo, S., Teixeira, M. R., Pankratz, V. S., Wang, X., Lindor, N., Szabo, C. I., Kauff, N., Vijai, J., Aghajanian, C. A., Pfeiler, G., Berger, A., Singer, C. F., Tea, M. K., Phelan, C. M., Greene, M. H., Mai, P. L., Rennert, G., Mulligan, A. M., Tchatchou, S., Andrulis, I. L., Glendon, G., Toland, A. E., Jensen, U. B., Kruse, T. A., Thomassen, M., Bojesen, A., Zidan, J., Friedman, E., Laitman, Y., Soller, M., Liljegren, A., Arver, B., Einbeigi, Z., Stenmark-Askmalm, M., Olopade, O. I., Nussbaum, R. L., Rebbeck, T. R., Nathanson, K. L., Domchek, S. M., Lu, K. H., Karlan, B. Y., Walsh, C., Lester, J., Hein, A., Ekici, A. B., Beckmann, M. W., Fasching, P. A., Lambrechts, D., Van Nieuwenhuysen, E., Vergote, I., Lambrechts, S., Dicks, E., Doherty, J. A., Wicklund, K. G., Rossing, M. A., Rudolph, A., Chang-Claude, J., Wang-Gohrke, S., Eilber, U., Moysich, K. B., Odunsi, K., Sucheston, L., Lele, S., Wilkens, L. R., Goodman, M. T., Thompson, P. J., Shvetsov, Y. B., Runnebaum, I. B., Dürst, M., Hillemanns, P., Dörk, T., Antonenkova, N., Bogdanova, N., Leminen, A., Pelttari, L. M., Butzow, R., Modugno, F., Kelley, J. L., Edwards, R. P., Ness, R. B., Du Bois, A., Heitz, F., Schwaab, I., Harter, P., Matsuo, K., Hosono, S., Orsulic, S., Jensen, A., Kjaer, S. K., Hogdall, E., Hasmad, H. N., Noor Azmi, M. A., Teo, S. H., Woo, Y. L., Fridley, B. L., Goode, E. L., Cunningham, J. M., Vierkant, R. A., Bruinsma, F., Giles, G. G., Liang, D., Hildebrandt, M. A. T., Wu, X., Levine, D. A., Bisogna, M., Berchuck, A., Iversen, E. S., Schildkraut, J. M., Concannon, P., Weber, R. P., Cramer, D. W., Terry, K. L., Poole, E. M., Tworoger, S. S., Bandera, E. V., Orlow, I., Olson, S. H., Krakstad, C., Salvesen, H. B., Tangen, I. L., Bjorge, L., Van Altena, A. M., Aben, K. K. H., Kiemeney, L. A., Massuger, L. F. A. G., Kellar, M., Brooks-Wilson, A., Kelemen, L. E., Cook, L. S., Le, N. D., Cybulski, C., Yang, H., Lissowska, J., Brinton, L. A., Wentzensen, N., Hogdall, C., Lundvall, L., Nedergaard, L., Baker, H., Song, H., Eccles, D., McNeish, I., Paul, J., Carty, K., Siddiqui, N., Glasspool, R., Whittemore, A. S., Rothstein, J. H., McGuire, V., Sieh, W., Ji, B. T., Zheng, W., Shu, X. O., Gao, Y. T., Rosen, B., Risch, H. A., McLaughlin, J. R., Narod, S. A., Monteiro, A. N., Chen, A., Lin, H. Y., Permuth-Wey, J., Sellers, T. A., Tsai, Y. Y., Chen, Z., Ziogas, A., Anton-Culver, H., Gentry-Maharaj, A., Menon, U., Harrington, P., Lee, A. W., Wu, A. H., Pearce, C. L., Coetzee, G., Pike, M. C., Dansonka-Mieszkowska, A., Timorek, A., Rzepecka, I. K., Kupryjanczyk, J., Freedman, M., Noushmehr, H., Easton, D. F., Offit, K., Couch, F. J., Gayther, S., Pharoah, P. P., Antoniou, A. C. & Chenevix-Trench, G., Jan 1 2015, In : Nature Genetics. 47, 2, p. 164-171 8 p.

Research output: Contribution to journalArticle

Mutation
Genome-Wide Association Study
Ovarian Neoplasms
Meta-Analysis
Ovarian epithelial cancer
125 Citations (Scopus)

Immunohistochemistry predicts nucleophosmin (NPM) mutations in acute myeloid leukemia

Falini, B., Martelli, M. P., Bolli, N., Bonasso, R., Ghia, E., Pallotta, M. T., Diverio, D., Nicoletti, I., Pacini, R., Tabarrini, A., Galletti, B. V., Mannucci, R., Roti, G., Rosati, R., Specchia, G., Liso, A., Tiacci, E., Alcalay, M., Luzi, L., Volorio, S. & 10 others, Bernard, L., Guarini, A., Amadori, S., Mandelli, F., Pane, F., Lo-Coco, F., Saglio, G., Pelicci, P. G., Martelli, M. F. & Mecucci, C., Sep 15 2006, In : Blood. 108, 6, p. 1999-2005 7 p.

Research output: Contribution to journalArticle

Acute Myeloid Leukemia
Immunohistochemistry
Mutation
Nuclear Export Signals
Exons
52 Citations (Scopus)

Interplay between BRCA1 and RHAMM regulates epithelial apicobasal polarization and may influence risk of breast cancer

Maxwell, C. A., Benítez, J., Gómez-Baldó, L., Osorio, A., Bonifaci, N., Fernández-Ramires, R., Costes, S. V., Guinó, E., Chen, H., Evans, G. J. R., Mohan, P., Català, I., Petit, A., Aguilar, H., Villanueva, A., Aytes, A., Serra-Musach, J., Rennert, G., Lejbkowicz, F., Peterlongo, P. & 127 others, Manoukian, S., Peissel, B., Ripamonti, C. B., Bonanni, B., Viel, A., Allavena, A., Bernard, L., Radice, P., Friedman, E., Kaufman, B., Laitman, Y., Dubrovsky, M., Milgrom, R., Jakubowska, A., Cybulski, C., Gorski, B., Jaworska, K., Durda, K., Sukiennicki, G., Lubiński, J., Shugart, Y. Y., Domchek, S. M., Letrero, R., Weber, B. L., Hogervorst, F. B. L., Rookus, M. A., Collee, J. M., Devilee, P., Ligtenberg, M. J., van der Luijt, R. B., Aalfs, C. M., Waisfisz, Q., Wijnen, J., van Roozendaal, C. E. P., HEBON, N. V., EMBRACE, N. V., Easton, D. F., Peock, S., Cook, M., Oliver, C., Frost, D., Harrington, P., Lalloo, F., Eeles, R., Izatt, L., Chu, C., Eccles, D., Douglas, F., Brewer, C., Nevanlinna, H., Heikkinen, T., Couch, F. J., Wang, X., Lindor, N. M., Godwin, A. K., Caligo, M. A., Lombardi, G., Loman, N., Karlsson, P., Ehrencrona, H., von Wachenfeldt, A., SWE-BRCA, N. V., Barkardottir, R., Hamann, U., Rashid, M. U., Lasa, A., Caldés, T., Andrés, R., Schmitt, M., Assmann, V., Stevens, K., Offit, K., Curado, J., Tilgner, H., Guigó, R., Aiza, G., Brunet, J., Martrat, G., Urruticoechea, A., Blanco, I., Tihomirova, L., Goldgar, D. E., Buys, S., John, E. M., Miron, A., Southey, M., Daly, M. B., BCFR, N. V., Schmutzler, R. K., Wappenschmidt, B., Meindl, A., Arnold, N., Deissler, H., Varon-Mateeva, R., Sutter, C., Niederacher, D., Imyamitov, E., Sinilnikova, O. M., Sinilnikova, O. M., Stoppa-Lyonne, D., Mazoyer, S., Verny-Pierre, C., Castera, L., de Pauw, A., Bignon, Y. J., Uhrhammer, N., Peyrat, J. P., Vennin, P., Ferrer, S., Collonge-Rame, M. A., Mortemousque, I., GEMO Study Collaborators, S. C., Spurdle, A. B., Beesley, J., Chen, X., Healey, S., Barcellos-Hoff, M. H., Barcellos-Hoff, M. H., Gruber, S. B., Lázaro, C., Capellá, G., McGuffog, L., Nathanson, K. L., Chenevix-Trench, G., Fleisch, M. C., Moreno, V. & Pujana, M. A., Nov 1 2011, In : PLoS Biology. 9, 11, e1001199.

Research output: Contribution to journalArticle

Aurora Kinase A
breast neoplasms
stem cells
Stem Cells
Polarization
346 Citations (Scopus)

Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer

Bojesen, S. E., Pooley, K. A., Johnatty, S. E., Beesley, J., Michailidou, K., Tyrer, J. P., Edwards, S. L., Pickett, H. A., Shen, H. C., Smart, C. E., Hillman, K. M., Mai, P. L., Lawrenson, K., Stutz, M. D., Lu, Y., Karevan, R., Woods, N., Johnston, R. L., French, J. D., Chen, X. & 417 others, Weischer, M., Nielsen, S. F., Maranian, M. J., Ghoussaini, M., Ahmed, S., Baynes, C., Bolla, M. K., Wang, Q., Dennis, J., McGuffog, L., Barrowdale, D., Lee, A., Healey, S., Lush, M., Tessier, D. C., Vincent, D., Bacot, F., Vergote, I., Lambrechts, S., Despierre, E., Risch, H. A., González-Neira, A., Rossing, M. A., Pita, G., Doherty, J. A., Álvarez, N., Larson, M. C., Fridley, B. L., Schoof, N., Chang-Claude, J., Cicek, M. S., Peto, J., Kalli, K. R., Broeks, A., Armasu, S. M., Schmidt, M. K., Braaf, L. M., Winterhoff, B., Nevanlinna, H., Konecny, G. E., Lambrechts, D., Rogmann, L., Guénel, P., Teoman, A., Milne, R. L., Garcia, J. J., Cox, A., Shridhar, V., Burwinkel, B., Marme, F., Hein, R., Sawyer, E. J., Haiman, C. A., Wang-Gohrke, S., Andrulis, I. L., Moysich, K. B., Hopper, J. L., Odunsi, K., Lindblom, A., Giles, G. G., Brenner, H., Simard, J., Lurie, G., Fasching, P. A., Carney, M. E., Radice, P., Wilkens, L. R., Swerdlow, A., Goodman, M. T., Brauch, H., Garcia-Closas, M., Hillemanns, P., Winqvist, R., Dürst, M., Devilee, P., Runnebaum, I., Jakubowska, A., Lubinski, J., Mannermaa, A., Butzow, R., Bogdanova, N. V., Dörk, T., Pelttari, L. M., Zheng, W., Leminen, A., Anton-Culver, H., Bunker, C. H., Kristensen, V., Ness, R. B., Muir, K., Edwards, R., Meindl, A., Heitz, F., Matsuo, K., Du Bois, A., Wu, A. H., Harter, P., Teo, S. H., Schwaab, I., Shu, X. O., Blot, W., Hosono, S., Kang, D., Nakanishi, T., Hartman, M., Yatabe, Y., Hamann, U., Karlan, B. Y., Sangrajrang, S., Kjaer, S. K., Gaborieau, V., Jensen, A., Eccles, D., Høgdall, E., Shen, C. Y., Brown, J., Woo, Y. L., Shah, M., Azmi, M. A. N., Luben, R., Omar, S. Z., Czene, K., Vierkant, R. A., Nordestgaard, B. G., Flyger, H., Vachon, C., Olson, J. E., Wang, X., Levine, D. A., Rudolph, A., Weber, R. P., Flesch-Janys, D., Iversen, E., Nickels, S., Schildkraut, J. M., Silva, I. D. S., Cramer, D. W., Gibson, L., Terry, K. L., Fletcher, O., Vitonis, A. F., Van Der Schoot, C. E., Poole, E. M., Hogervorst, F. B. L., Tworoger, S. S., Liu, J., Bandera, E. V., Li, J., Olson, S. H., Humphreys, K., Orlow, I., Blomqvist, C., Rodriguez-Rodriguez, L., Aittomäki, K., Salvesen, H. B., Muranen, T. A., Wik, E., Brouwers, B., Krakstad, C., Wauters, E., Halle, M. K., Wildiers, H., Kiemeney, L. A., Mulot, C., Aben, K. K., Laurent-Puig, P., Altena, A. M., Truong, T., Massuger, L. F. A. G., Benitez, J., Pejovic, T., Perez, J. I. A., Hoatlin, M., Zamora, M. P., Cook, L. S., Balasubramanian, S. P., Kelemen, L. E., Schneeweiss, A., Le, N. D., Sohn, C., Brooks-Wilson, A., Tomlinson, I., Kerin, M. J., Miller, N., Cybulski, C., Henderson, B. E., Menkiszak, J., Schumacher, F., Wentzensen, N., Le Marchand, L., Yang, H. P., Mulligan, A. M., Glendon, G., Engelholm, S. A., Knight, J. A., Høgdall, C. K., Apicella, C., Gore, M., Tsimiklis, H., Song, H., Southey, M. C., Jager, A., Den Ouweland, A. M. W., Brown, R., Martens, J. W. M., Flanagan, J. M., Kriege, M., Paul, J., Margolin, S., Siddiqui, N., Severi, G., Whittemore, A. S., Baglietto, L., McGuire, V., Stegmaier, C., Sieh, W., Müller, H., Arndt, V., Labrèche, F., Gao, Y. T., Goldberg, M. S., Yang, G., Dumont, M., McLaughlin, J. R., Hartmann, A., Ekici, A. B., Beckmann, M. W., Phelan, C. M., Lux, M. P., Permuth-Wey, J., Peissel, B., Sellers, T. A., Ficarazzi, F., Barile, M., Ziogas, A., Ashworth, A., Gentry-Maharaj, A., Jones, M., Ramus, S. J., Orr, N., Menon, U., Pearce, C. L., Brüning, T., Pike, M. C., Ko, Y. D., Lissowska, J., Figueroa, J., Kupryjanczyk, J., Chanock, S. J., Dansonka-Mieszkowska, A., Jukkola-Vuorinen, A., Rzepecka, I. K., Pylkäs, K., Bidzinski, M., Kauppila, S., Hollestelle, A., Seynaeve, C., Tollenaar, R. A. E. M., Durda, K., Jaworska, K., Hartikainen, J. M., Kosma, V. M., Kataja, V., Antonenkova, N. N., Long, J., Shrubsole, M., Deming-Halverson, S., Lophatananon, A., Siriwanarangsan, P., Stewart-Brown, S., Ditsch, N., Lichtner, P., Schmutzler, R. K., Ito, H., Iwata, H., Tajima, K., Tseng, C. C., Stram, D. O., Van Den Berg, D., Yip, C. H., Ikram, M. K., Teh, Y. C., Cai, H., Lu, W., Signorello, L. B., Cai, Q., Noh, D. Y., Yoo, K. Y., Miao, H., Iau, P. T. C., Teo, Y. Y., McKay, J., Shapiro, C., Ademuyiwa, F., Fountzilas, G., Hsiung, C. N., Yu, J. C., Hou, M. F., Healey, C. S., Luccarini, C., Peock, S., Stoppa-Lyonnet, D., Peterlongo, P., Rebbeck, T. R., Piedmonte, M., Singer, C. F., Friedman, E., Thomassen, M., Offit, K., Hansen, T. V. O., Neuhausen, S. L., Szabo, C. I., Blanco, I., Garber, J., Narod, S. A., Weitzel, J. N., Montagna, M., Olah, E., Godwin, A. K., Yannoukakos, D., Goldgar, D. E., Caldes, T., Imyanitov, E. N., Tihomirova, L., Arun, B. K., Campbell, I., Mensenkamp, A. R., Van Asperen, C. J., Van Roozendaal, K. E. P., Meijers-Heijboer, H., Collée, J. M., Oosterwijk, J. C., Hooning, M. J., Rookus, M. A., Van Der Luijt, R. B., Os, T. A. M., Evans, D. G., Frost, D., Fineberg, E., Barwell, J., Walker, L., Kennedy, M. J., Platte, R., Davidson, R., Ellis, S. D., Cole, T., Bressac-De Paillerets, B., Buecher, B., Damiola, F., Faivre, L., Frenay, M., Sinilnikova, O. M., Caron, O., Giraud, S., Mazoyer, S., Bonadona, V., Caux-Moncoutier, V., Toloczko-Grabarek, A., Gronwald, J., Byrski, T., Spurdle, A. B., Bonanni, B., Zaffaroni, D., Giannini, G., Bernard, L., Dolcetti, R., Manoukian, S., Arnold, N., Engel, C., Deissler, H., Rhiem, K., Niederacher, D., Plendl, H., Sutter, C., Wappenschmidt, B., Borg, Å., Melin, B., Rantala, J., Soller, M., Nathanson, K. L., Domchek, S. M., Rodriguez, G. C., Salani, R., Kaulich, D. G., Tea, M. K., Paluch, S. S., Laitman, Y., Skytte, A. B., Kruse, T. A., Jensen, U. B., Robson, M., Gerdes, A. M., Ejlertsen, B., Foretova, L., Savage, S. A., Lester, J., Soucy, P., Kuchenbaecker, K. B., Olswold, C., Cunningham, J. M., Slager, S., Pankratz, V. S., Dicks, E., Lakhani, S. R., Couch, F. J., Hall, P., Monteiro, A. N. A., Gayther, S. A., Pharoah, P. D. P., Reddel, R. R., Goode, E. L., Greene, M. H., Easton, D. F., Berchuck, A., Antoniou, A. C., Chenevix-Trench, G. & Dunning, A. M., Apr 2013, In : Nature Genetics. 45, 4, p. 371-384 14 p.

Research output: Contribution to journalArticle

Telomere
Ovarian Neoplasms
Single Nucleotide Polymorphism
Breast Neoplasms
Alleles
259 Citations (Scopus)

Myc-binding-site recognition in the human genome is determined by chromatin context

Guccione, E., Martinato, F., Finocchiaro, G., Luzi, L., Tizzoni, L., Dall' Olio, V., Zardo, G., Nervi, C., Bernard, L. & Amati, B., Jul 2006, In : Nature Cell Biology. 8, 7, p. 764-770 7 p.

Research output: Contribution to journalArticle

Histone Code
Human Genome
Chromatin
Transcription Factors
Binding Sites
137 Citations (Scopus)
Oral Contraceptives
Ovarian Neoplasms
Meta-Analysis
Breast Neoplasms
Mutation
70 Citations (Scopus)

Oxidative stress activates a specific p53 transcriptional response that regulates cellular senescence and aging

Gambino, V., De Michele, G., Venezia, O., Migliaccio, P., Dall'Olio, V., Bernard, L., Minardi, S. P., Fazia, M. A. D., Bartoli, D., Servillo, G., Alcalay, M., Luzi, L., Giorgio, M., Scrable, H., Pelicci, P. G. & Migliaccio, E., Jun 2013, In : Aging Cell. 12, 3, p. 435-445 11 p.

Research output: Contribution to journalArticle

Cell Aging
Oxidative Stress
Mitosis
Gene Regulatory Networks
p53 Genes
63 Citations (Scopus)

PALB2, CHEK2 and ATM rare variants and cancer risk: Data from COGS

Southey, M. C., Goldgar, D. E., Winqvist, R., Pylkäs, K., Couch, F., Tischkowitz, M., Foulkes, W. D., Dennis, J., Michailidou, K., van Rensburg, E. J., Heikkinen, T., Nevanlinna, H., Hopper, J. L., Dörk, T., Claes, K. B. M., Reis-Filho, J., Teo, Z. L., Radice, P., Catucci, I., Peterlongo, P. & 32 others, Tsimiklis, H., Odefrey, F. A., Dowty, J. G., Schmidt, M. K., Broeks, A., Hogervorst, F. B., Verhoef, S., Carpenter, J., Clarke, C., Scott, R. J., Fasching, P. A., Haeberle, L., Ekici, A. B., Beckmann, M. W., Peto, J., dos-Santos-Silva, I., Fletcher, O., Johnson, N., Bolla, M. K., Sawyer, E. J., Tomlinson, I., Kerin, M. J., Miller, N., Marme, F., Burwinkel, B., Yang, R., Guénel, P., Peissel, B., Bonanni, B., Bernard, L., kConFab Investigators & Australian Ovarian Cancer Study Group, Sep 2 2016, (Accepted/In press) In : Journal of Medical Genetics.

Research output: Contribution to journalArticle

Neoplasms
Breast Neoplasms
Mutation
Ovarian Neoplasms
Case-Control Studies

PALB2, CHEK2 and ATM rare variants and cancer risk: Data from COGS

Southey, M., Goldgar, D. E., Winqvist, R., Pylkäs, K., Couch, F. J., Tischkowitz, M., Foulkes, W. D., Dennis, J., Michailidou, K., van Rensburg, E. J., Heikkinen, T., Nevanlinna, H., Hopper, J., Dörk, T., Claes, K., Reis-Filho, J. S., Teo, Z. L., Radice, P., Catucci, I., Peterlongo, P. & 306 others, Tsimiklis, H., Odefrey, F., Dowty, J. G., Schmidt, M. K., Broeks, A., Hogervorst, F. B., Verhoef, S., Carpenter, J., Clarke, C., Scott, R. J., Fasching, P. A., Haeberle, L., Ekici, A. B., Beckmann, M. W., Peto, J., Dos-Santos-Silva, I., Fletcher, O., Johnson, N., Bolla, M. K., Sawyer, E. J., Tomlinson, I., Kerin, M. J., Miller, N., Marme, F., Burwinkel, B., Yang, R., Guenel, P., Truong, T., Menegaux, F., Sanchez, M., Bojesen, S. E., Nielsen, S. F., Flyger, H., Benitez, J., Zamora, M. P., Perez, J. I. A., Menéndez, P., Anton-Culver, H., Neuhausen, S. L., Ziogas, A., Clarke, C. A., Brenner, H., Arndt, V., Stegmaier, C., Brauch, H., Brüning, T., Ko, Y. D., Muranen, T. A., Aittomäki, K., Blomqvist, C., Bogdanova, N. V., Antonenkova, N. N., Lindblom, A., Margolin, S., Mannermaa, A., Kataja, V., Kosma, V. M., Hartikainen, J. M., Spurdle, A. B., Wauters, E., Smeets, D., Beuselinck, B., Floris, G., Chang-Claude, J., Rudolph, A., Seibold, P., Flesch-Janys, D., Olson, J. E., Vachon, C., Pankratz, V. S., McLean, C., Haiman, C. A., Henderson, B. E., Schumacher, F. R., Marchand, L. L., Kristensen, V., Alnaes, G. G., Zheng, W., Hunter, D. J., Lindström, S., Hankinson, S. E., Kraft, P., Andrulis, I. L., Knight, J. A., Glendon, G., Mulligan, A. M., Jukkola-Vuorinen, A., Grip, M., Kauppila, S., Devilee, P., Tollenaar, R. A. E. M., Seynaeve, C., Hollestelle, A., Garcia-Closas, M., Figueroa, J. D., Chanock, S. J., Lissowska, J., Czene, K., Darabi, H., Eriksson, M., Eccles, D., Rafiq, S., Tapper, W. J., Gerty, S. M., Hooning, M. J., Martens, J. W. M., Collée, J. M., Tilanus-Linthorst, M. M. A., Hall, P., Li, J., Brand, J. S., Humphreys, K., Cox, A., Reed, M. W. R., Luccarini, C., Baynes, C., Dunning, A., Hamann, U., Torres, D., Ulmer, H. U., Rüdiger, T., Jakubowska, A., Lubinski, J., Jaworska, K., Durda, K., Slager, S., Toland, A. E., Ambrosone, C. B., Yannoukakos, D., Swerdlow, A. J., Ashworth, A., Orr, N., Jones, M. E., González-Neira, A., Pita, G., Alonso, M. R., Álvarez, N., Herrero, D., Tessier, D. C., Vincent, D., Bacot, F., Simard, J., Dumont, M., Soucy, P., Eeles, R., Muir, K., Wiklund, F., Grönberg, H., Schleutker, J., Nordestgaard, B. G., Weischer, M., Travis, R. C., Neal, D. E., Donovan, J. L., Hamdy, F. C., Khaw, K. T., Stanford, J. L., Blot, W. J., Thibodeau, S., Schaid, D. J., Kelley, J. L., Maier, C., Kibel, A. S., Cybulski, C., Cannon-Albright, L., Butterbach, K., Park, J., Kaneva, R., Batra, J., Teixeira, M. R., Kote-Jarai, Z., Olama, A. A. A., Benlloch, S., Renner, S. P., Hartmann, A., Hein, A., Ruebner, M., Lambrechts, D., Nieuwenhuysen, E. V., Vergote, I., Lambretchs, S., Doherty, J. A., Rossing, M. A., Nickels, S., Eilber, U., Wang-Gohrke, S., Odunsi, K., Sucheston-Campbell, L. E., Friel, G., Lurie, G., Killeen, J. L., Wilkens, L. R., Goodman, M. T., Runnebaum, I. B., Hillemanns, P., Pelttari, L. M., Butzow, R., Modugno, F., Edwards, R. P., Ness, R. B., Moysich, K. B., du Bois, A., Heitz, F., Harter, P., Kommoss, S., Karlan, B. Y., Walsh, C. S., Lester, J., Jensen, A., Kjær, S. K., Hogdall, E., Peissel, B. G., Bonanni, B., Bernard, L., Goode, E. L., Fridley, B. L., Vierkant, R. A., Cunningham, J., Larson, M. C., Fogarty, Z. C., Kalli, K. R., Liang, D., Lu, K. H., Hildebrandt, M. A. T., Wu, X., Levine, D. A., Dao, F., Bisogna, M., Berchuck, A., Iversen, E. S., Marks, J. R., Akushevich, L., Cramer, D. W., Schildkraut, J. M., Terry, K. L., Poole, E. M., Stampfer, M., Tworoger, S. S., Bandera, E. V., Orlow, I., Olson, S. H., Bjorge, L., Salvesen, H. B., Van Altena, A. M., Aben, K. K. H., Kiemeney, L., Massuger, L. F. A. G., Pejovic, T., Bean, Y., Brooks-Wilson, A., Kelemen, L. E., Cook, L. S., Le, N. D., Gorski, B., Gronwald, J., Menkiszak, J., Hogdall, C., Lundvall, L., Nedergaard, L., Engelholm, S. A., Dicks, E., Tyrer, J., Campbell, I., McNeish, I. A., Paul, J., Siddiqui, N., Glasspool, R., Whittemore, A. S., Rothstein, J. H., McGuire, V., Sieh, W., Cai, H., Shu, X. O., Teten, R. T., Sutphen, R., McLaughlin, J. R., Narod, S. A., Phelan, C. M., Monteiro, A. N., Fenstermacher, D. A., Lin, H. Y., Permuth, J. B., Sellers, T. A., Chen, Y. A., Tsai, Y. Y., Chen, Z., Gentry-Maharaj, A., Gayther, S. A., Ramus, S. J., Menon, U., Wu, A. H., Pearce, C. L., Van Den Berg, D., Pike, M. C., Dansonka-Mieszkowska, A., Plisiecka-Halasa, J., Moes-Sosnowska, J., Kupryjanczyk, J., Pharoah, P. D. P., Song, H., Winship, I. M., Chenevix-Trench, G., Giles, G. G., Tavtigian, S. V., Easton, D. F. & Milne, R. L., Sep 2 2016, (Accepted/In press) In : Journal of Medical Genetics.

Research output: Contribution to journalArticle

Neoplasms
Breast Neoplasms
Mutation
Ovarian Neoplasms
Case-Control Studies
16 Citations (Scopus)

PALB2 sequencing in Italian familial breast cancer cases reveals a high-risk mutation recurrent in the province of Bergamo

Catucci, I., Peterlongo, P., Ciceri, S., Colombo, M., Pasquini, G., Barile, M., Bonanni, B., Verderio, P., Pizzamiglio, S., Foglia, C., Falanga, A., Marchetti, M., Galastri, L., Bianchi, T., Corna, C., Ravagnani, F., Bernard, L., Fortuzzi, S., Sardella, D., Scuvera, G. & 4 others, Peissel, B., Manoukian, S., Tondini, C. & Radice, P., Sep 11 2014, In : Genetics in Medicine. 16, 9, p. 688-694 7 p.

Research output: Contribution to journalArticle

Mutation
Breast Neoplasms
Viverridae
Penetrance
Germ-Line Mutation
176 Citations (Scopus)

Role for histone deacetylase 1 in human tumor cell proliferation

Senese, S., Zaragoza, K., Minardi, S., Muradore, I., Ronzoni, S., Passafaro, A., Bernard, L., Draetta, G. F., Alcalay, M., Seiser, C. & Chiocca, S., Jul 2007, In : Molecular and Cellular Biology. 27, 13, p. 4784-4795 12 p.

Research output: Contribution to journalArticle

Histone Deacetylases
Cell Proliferation
Neoplasms
Histones
Cell Cycle
24 Citations (Scopus)

SEL1L, the human homolog of C. elegans sel-1: Refined physical mapping, gene structure and identification of polymorphic markers

Biunno, I., Bernard, L., Dear, P., Cattaneo, M., Volorio, S., Zannini, L., Bankier, A. & Zollo, M., 2000, In : Human Genetics. 106, 2, p. 227-235 9 p.

Research output: Contribution to journalArticle

Chromosome Mapping
Microsatellite Repeats
Genes
Exons
Invertebrates