• 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
1995
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
1996
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
1997
21 Citations (Scopus)

X-linked recessive chondrodysplasia punctata due to a new point mutation of the ARSE gene

Parenti, G., Buttitta, P., Meroni, G., Franco, B., Bernard, L., Rizzolo, M. G., Brunetti-Pierri, N., Ballabio, A. & Andria, G., Dec 12 1997, In : American Journal of Medical Genetics. 73, 2, p. 139-143 5 p.

Research output: Contribution to journalArticle

Chondrodysplasia Punctata
Point Mutation
Genes
Mutation
Developmental Bone Disease
1998
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
5 Citations (Scopus)

The β and γ subunits of the human platelet-activating factor acetyl hydrolase isoform Ib (PAFAH1B2 and PAFAH1B3) map to chromosome 11q23 and 19q13.1, respectively

Moro, F., Arrigo, G., Fogli, A., Bernard, L. & Carrozzo, R., Jul 1 1998, In : Genomics. 51, 1, p. 157-159 3 p.

Research output: Contribution to journalArticle

1999
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
2000
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
2001
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
2003

The DNA sequence quality machine at IFOM: A simple web-based tool for quantitative assessment of sequencing reactions

Lassandro, L., Lyons, R., Volorio, S., Bernard, L. & Guffanti, A., Aug 2003, In : DNA Sequence - Journal of DNA Sequencing and Mapping. 14, 4, p. 327-330 4 p.

Research output: Contribution to journalArticle

DNA sequences
National Human Genome Research Institute (U.S.)
HTTP
Organized Financing
Human Genome
2005
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
2006
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
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
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
2007
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
89 Citations (Scopus)

Survival prediction of stage I lung adenocarcinomas by expression of 10 genes

Bianchi, F., Nuciforo, P., Vecchi, M., Bernard, L., Tizzoni, L., Marchetti, A., Buttitta, F., Felicioni, L., Nicassio, F. & Di Fiore, P. P., Nov 1 2007, In : Journal of Clinical Investigation. 117, 11, p. 3436-3444 9 p.

Research output: Contribution to journalArticle

Gene Expression
Survival
Lung Neoplasms
Polymerase Chain Reaction
Genes
2008
14 Citations (Scopus)

The p53 Arg72Pro and Ins16bp polymorphisms and their haplotypes are not associated with breast cancer risk in BRCA-mutation negative familial cases

De Vecchi, G., Verderio, P., Pizzamiglio, S., Manoukian, S., Bernard, L., Pensotti, V., Volorio, S., Ravagnani, F., Radice, P. & Peterlongo, P., 2008, In : Cancer Detection and Prevention. 32, 2, p. 140-143 4 p.

Research output: Contribution to journalArticle

Haplotypes
Breast Neoplasms
Mutation
Penetrance
Alleles
2009
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
23 Citations (Scopus)

SNPs in ultraconserved elements and familial breast cancer risk

Catucci, I., Verderio, P., Pizzamiglio, S., Manoukian, S., Peissel, B., Barile, M., Tizzoni, L., Bernard, L., Ravagnani, F., Galastri, L., Pierotti, M. A., Radice, P. & Peterlongo, P., 2009, In : Carcinogenesis. 30, 3, p. 544-545 2 p.

Research output: Contribution to journalArticle

2010
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
137 Citations (Scopus)
Oral Contraceptives
Ovarian Neoplasms
Meta-Analysis
Breast Neoplasms
Mutation
21 Citations (Scopus)

Ultradeep sequencing of a human ultraconserved region reveals somatic and constitutional genomic instability

De Grassi, A., Segala, C., Iannelli, F., Volorio, S., Bertario, L., Radice, P., Bernard, L. & Ciccarelli, F. D., Jan 2010, In : PLoS Biology. 8, 1, e1000275.

Research output: Contribution to journalArticle

Genomic Instability
mutation
genomics
Colorectal Neoplasms
colorectal neoplasms
2011
225 Citations (Scopus)
MicroRNAs
Routine Diagnostic Tests
Lung Neoplasms
Non-Small Cell Lung Carcinoma
Serum
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
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
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
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
11 Citations (Scopus)

The rs12975333 variant in the miR-125a and breast cancer risk in Germany, Italy, Australia and Spain

Peterlongo, P., Caleca, L., Cattaneo, E., Ravagnani, F., Bianchi, T., Galastri, L., Bernard, L., Ficarazzi, F., Dall'olio, V., Marme, F., Langheinz, A., Sohn, C., Burwinkel, B., Giles, G. G., Baglietto, L., Severi, G., Odefrey, F. A., Southey, M. C., Osorio, A., Fernández, F. & 6 others, Alonso, M. R., Benítez, J., Barile, M., Peissel, B., Manoukian, S. & Radice, P., Oct 2011, In : Journal of Medical Genetics. 48, 10, p. 703-704 2 p.

Research output: Contribution to journalArticle

2012
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
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
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
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
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
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
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
8 Citations (Scopus)

Sequencing analysis of SLX4/FANCP gene in Italian familial breast cancer cases

Catucci, I., Colombo, M., Verderio, P., Bernard, L., Ficarazzi, F., Mariette, F., Barile, M., Peissel, B., Cattaneo, E., Manoukian, S., Radice, P. & Peterlongo, P., Feb 23 2012, In : PLoS One. 7, 2, e31038.

Research output: Contribution to journalArticle

breast neoplasms
Genes
Breast Neoplasms
Fanconi Anemia
Germ-Line Mutation
62 Citations (Scopus)

The role of genetic breast cancer susceptibility variants as prognostic factors

Fasching, P. A., Pharoah, P. D. P., Cox, A., Nevanlinna, H., Bojesen, S. E., Karn, T., Broeks, A., Van Leeuwen, F. E., Van't Veer, L. J., Udo, R., Dunning, A. M., Greco, D., Aittomäki, K., Blomqvist, C., Shah, M., Nordestgaard, B. G., Flyger, H., Hopper, J. L., Southey, M. C., Apicella, C. & 78 others, Garcia-Closas, M., Sherman, M., Lissowska, J., Seynaeve, C., Huijts, P. E. A., Tollenaar, R. A. E. M., Ziogas, A., Ekici, A. B., Rauh, C., Mannermaa, A., Kataja, V., Kosma, V. M., Hartikainen, J. M., Andrulis, I. L., Ozcelik, H., Mulligan, A. M., Glendon, G., Hall, P., Czene, K., Liu, J., Chang-Claude, J., Wang-Gohrke, S., Eilber, U., Nickels, S., Dörk, T., Schiekel, M., Bremer, M., Park-Simon, T. W., Giles, G. G., Severi, G., Baglietto, L., Hooning, M. J., Martens, J. W. M., Jager, A., Kriege, M., Lindblom, A., Margolin, S., Couch, F. J., Stevens, K. N., Olson, J. E., Kosel, M., Cross, S. S., Balasubramanian, S. P., Reed, M. W. R., Miron, A., John, E. M., Winqvist, R., Pylkäs, K., Jukkola-Vuorinen, A., Kauppila, S., Burwinkel, B., Marme, F., Schneeweiss, A., Sohn, C., Chenevix-Trench, G., Lambrechts, D., Dieudonne, A. S., Hatse, S., Van Limbergen, E., Benitez, J., Milne, R. L., Zamora, M. P., Pérez, J. I. A., Bonanni, B., Peissel, B., Loris, B., Peterlongo, P., Rajaraman, P., Schonfeld, S. J., Anton-Culver, H., Devilee, P., Beckmann, M. W., Slamon, D. J., Phillips, K. A., Figueroa, J. D., Humphreys, M. K., Easton, D. F. & Schmidt, M. K., Sep 2012, In : Human Molecular Genetics. 21, 17, p. 3926-3939 14 p., dds159.

Research output: Contribution to journalArticle

Single Nucleotide Polymorphism
Breast Neoplasms
Genome-Wide Association Study
Survival
Proportional Hazards Models
29 Citations (Scopus)

The SNP rs895819 in miR-27a is not associated with familial breast cancer risk in Italians

Catucci, I., Verderio, P., Pizzamiglio, S., Bernard, L., Dall'Olio, V., Sardella, D., Ravagnani, F., Galastri, L., Barile, M., Peissel, B., Zaffaroni, D., Manoukian, S., Radice, P. & Peterlongo, P., Jun 2012, In : Breast Cancer Research and Treatment. 133, 2, p. 805-807 3 p.

Research output: Contribution to journalArticle

2013
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

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
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
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
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
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
2014
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
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