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Research Output 1989 2019

  • 4028 Citations
  • 33 h-Index
  • 141 Article
  • 7 Comment/debate
  • 2 Review article
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Article
2019
2 Citations (Scopus)

A qualitative study on decision-making about BRCA1/2 testing in Italian women

Battistuzzi, L., Franiuk, M., Kasparian, N., Rania, N., Migliorini, L. & Varesco, L., Sep 1 2019, In : European Journal of Cancer Care. 28, 5, e13083.

Research output: Contribution to journalArticle

Decision Making
Genetic Counseling
Counseling
Neoplasms
Italy

Are young women ready for BRCA testing? Comparing attitudes and comprehension of two age groups of healthy Italian women

Gavaruzzi, T., Tasso, A., Franiuk, M., Varesco, L. & Lotto, L., Jun 1 2019, In : Patient Education and Counseling. 102, 6, p. 1210-1216 7 p.

Research output: Contribution to journalArticle

Age Groups
Pamphlets
Genetic Testing
Ovarian Neoplasms
Population

BRCA1/2 molecular assay for ovarian cancer patients: A survey through Italian departments of oncology and molecular and genomic diagnostic laboratories

Capoluongo, E., La Verde, N., Barberis, M., Bella, M. A., Buttitta, F., Carrera, P., Colombo, N., Cortesi, L., Genuardi, M., Gion, M., Guarneri, V., Lorusso, D., Marchetti, A., Marchetti, P., Normanno, N., Pasini, B., Pensabene, M., Pignata, S., Radice, P., Ricevuto, E. & 8 others, Sapino, A., Tagliaferri, P., Tassone, P., Trevisiol, C., Truini, M., Varesco, L., Russo, A. & Gori, S., Dec 1 2019, In : Diagnostics. 9, 4, 46.

Research output: Contribution to journalArticle

Open Access

Clustered protocadherins methylation alterations in cancer

Vega-Benedetti, A. F., Loi, E., Moi, L., Blois, S., Fadda, A., Antonelli, M., Arcella, A., Badiali, M., Giangaspero, F., Morra, I., Columbano, A., Restivo, A., Zorcolo, L., Gismondi, V., Varesco, L., Bellomo, S. E., Giordano, S., Canale, M., Casadei-Gardini, A., Faloppi, L. & 10 others, Puzzoni, M., Scartozzi, M., Ziranu, P., Cabras, G., Cocco, P., Ennas, M. G., Satta, G., Zucca, M., Canzio, D. & Zavattari, P., Jul 9 2019, In : Clinical Epigenetics. 11, 1, 100.

Research output: Contribution to journalArticle

Open Access
CpG Islands
Methylation
Astrocytoma
Neoplasms
Biliary Tract Neoplasms

Clustered protocadherins methylation alterations in cancer

Vega-Benedetti, A. F., Loi, E., Moi, L., Blois, S., Fadda, A., Antonelli, M., Arcella, A., Badiali, M., Giangaspero, F., Morra, I., Columbano, A., Restivo, A., Zorcolo, L., Gismondi, V., Varesco, L., Bellomo, S. E., Giordano, S., Canale, M., Casadei-Gardini, A., Faloppi, L. & 10 others, Puzzoni, M., Scartozzi, M., Ziranu, P., Cabras, G., Cocco, P., Ennas, M. G., Satta, G., Zucca, M., Canzio, D. & Zavattari, P., Jul 9 2019, In : Clinical Epigenetics. 11, 1, p. 100

Research output: Contribution to journalArticle

CpG Islands
Methylation
Astrocytoma
Neoplasms
Biliary Tract Neoplasms

Evaluation of cyp17a1 and cyp1b1 polymorphisms in male breast cancer risk

Rizzolo, P., Silvestri, V., Valentini, V., Zelli, V., Bucalo, A., Zanna, I., Bianchi, S., Tibiletti, M. G., Russo, A., Varesco, L., Tedaldi, G., Bonanni, B., Azzollini, J., Manoukian, S., Coppa, A., Giannini, G., Cortesi, L., Viel, A., Montagna, M., Peterlongo, P. & 3 others, Radice, P., Palli, D. & Ottini, L., Jan 1 2019, In : Endocrine Connections. 8, 8, p. 1224-1229 6 p.

Research output: Contribution to journalArticle

Open Access
2 Citations (Scopus)

Insight into genetic susceptibility to male breast cancer by multigene panel testing: Results from a multicenter study in Italy

Rizzolo, P., Zelli, V., Silvestri, V., Valentini, V., Zanna, I., Bianchi, S., Masala, G., Spinelli, A. M., Tibiletti, M. G., Russo, A., Varesco, L., Giannini, G., Capalbo, C., Calistri, D., Cortesi, L., Viel, A., Bonanni, B., Azzollini, J., Manoukian, S., Montagna, M. & 4 others, Peterlongo, P., Radice, P., Palli, D. & Ottini, L., Jul 15 2019, In : International Journal of Cancer. 145, 2, p. 390-400 11 p.

Research output: Contribution to journalArticle

Male Breast Neoplasms
Genetic Predisposition to Disease
Italy
Multicenter Studies
Genes
2 Citations (Scopus)

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification

Parsons, M. T., Tudini, E., Li, H., Hahnen, E., Wappenschmidt, B., Feliubadaló, L., Aalfs, C. M., Agata, S., Aittomäki, K., Alducci, E., Alonso-Cerezo, M. C., Arnold, N., Auber, B., Austin, R., Azzollini, J., Balmaña, J., Barbieri, E., Bartram, C. R., Blanco, A., Blümcke, B. & 201 others, Bonache, S., Bonanni, B., Borg, Å., Bortesi, B., Brunet, J., Bruzzone, C., Bucksch, K., Cagnoli, G., Caldés, T., Caliebe, A., Caligo, M. A., Calvello, M., Capone, G. L., Caputo, S. M., Carnevali, I., Carrasco, E., Caux-Moncoutier, V., Cavalli, P., Cini, G., Clarke, E. M., Concolino, P., Cops, E. J., Cortesi, L., Couch, F. J., Darder, E., de la Hoya, M., Dean, M., Debatin, I., Del Valle, J., Delnatte, C., Derive, N., Diez, O., Ditsch, N., Domchek, S. M., Dutrannoy, V., Eccles, D. M., Ehrencrona, H., Enders, U., Evans, D. G., Farra, C., Faust, U., Felbor, U., Feroce, I., Fine, M., Foulkes, W. D., Galvao, H. C. R., Gambino, G., Gehrig, A., Gensini, F., Gerdes, A. M., Germani, A., Giesecke, J., Gismondi, V., Gómez, C., Gómez Garcia, E. B., González, S., Grau, E., Grill, S., Gross, E., Guerrieri-Gonzaga, A., Guillaud-Bataille, M., Gutiérrez-Enríquez, S., Haaf, T., Hackmann, K., Hansen, T. V. O., Harris, M., Hauke, J., Heinrich, T., Hellebrand, H., Herold, K. N., Honisch, E., Horvath, J., Houdayer, C., Hübbel, V., Iglesias, S., Izquierdo, A., James, P. A., Janssen, L. A. M., Jeschke, U., Kaulfuß, S., Keupp, K., Kiechle, M., Kölbl, A., Krieger, S., Kruse, T. A., Kvist, A., Lalloo, F., Larsen, M., Lattimore, V. L., Lautrup, C., Ledig, S., Leinert, E., Lewis, A. L., Lim, J., Loeffler, M., López-Fernández, A., Lucci-Cordisco, E., Maass, N., Manoukian, S., Marabelli, M., Matricardi, L., Meindl, A., Michelli, R. D., Moghadasi, S., Moles-Fernández, A., Montagna, M., Montalban, G., Monteiro, A. N., Montes, E., Mori, L., Moserle, L., Müller, C. R., Mundhenke, C., Naldi, N., Nathanson, K. L., Navarro, M., Nevanlinna, H., Nichols, C. B., Niederacher, D., Nielsen, H. R., Ong, K. R., Pachter, N., Palmero, E. I., Papi, L., Pedersen, I. S., Peissel, B., Perez-Segura, P., Pfeifer, K., Pineda, M., Pohl-Rescigno, E., Poplawski, N. K., Porfirio, B., Quante, A. S., Ramser, J., Reis, R. M., Revillion, F., Rhiem, K., Riboli, B., Ritter, J., Rivera, D., Rofes, P., Rump, A., Salinas, M., Sánchez de Abajo, A. M., Schmidt, G., Schoenwiese, U., Seggewiß, J., Solanes, A., Steinemann, D., Stiller, M., Stoppa-Lyonnet, D., Sullivan, K. J., Susman, R., Sutter, C., Tavtigian, S. V., Teo, S. H., Teulé, A., Thomassen, M., Tibiletti, M. G., Tischkowitz, M., Tognazzo, S., Toland, A. E., Tornero, E., Törngren, T., Torres-Esquius, S., Toss, A., Trainer, A. H., Tucker, K. M., van Asperen, C. J., van Mackelenbergh, M. T., Varesco, L., Vargas-Parra, G., Varon, R., Vega, A., Velasco, Á., Vesper, A. S., Viel, A., Vreeswijk, M. P. G., Wagner, S. A., Waha, A., Walker, L. C., Walters, R. J., Wang-Gohrke, S., Weber, B. H. F., Weichert, W., Wieland, K., Wiesmüller, L., Witzel, I., Wöckel, A., Woodward, E. R., Zachariae, S., Zampiga, V., Zeder-Göß, C., Investigators, KC. F., Lázaro, C., De Nicolo, A., Radice, P., Engel, C., Schmutzler, R. K., Goldgar, D. E. & Spurdle, A. B., Sep 1 2019, In : Human Mutation. 40, 9, p. 1557-1578 22 p.

Research output: Contribution to journalArticle

Open Access
Virulence
Neoplasm Genes
Adenosine Monophosphate
Computational Biology
Calibration

Raccomandazioni per l'implementazione del Test genetico BRCA1/2 nelle pazienti con carcinoma ovarico: dall'analisi sul tessuto tumorale a quella su DNA germinale. A cura di: Gruppo di Lavoro SIBioC Biologia Molecolare, Associazione Italiana di Oncologia Medica (AIOM), Società Italiana di Genetica Umana (SIGU), Società Italiana di Anatomia Patologica e Citologia Diagnostica-Divisione Italiana della International Accademy of Pathology (SIAPEC-IAP). Revisione Ottobre 2018.

Translated title of the contribution: Recommendations for the implementation of BRCA1/2 testing in ovarian cancer patients: From tumor to germline analysis. Joint document from SIBioC, AIOM, SIGU, SIAPEC-IAP.Barberis, M., Bella, M. A., Buttitta, F., Capoluongo, E., Carrera, P., Colombo, N., Cortesi, L., Genuardi, M., Gion, M., Gori, S., Guarneri, V., Verde, N. L., Lorusso, D., Marchetti, A., Marchetti, P., Normanno, N., Pasini, B., Pensabene, M., Pignata, S., Radice, P. & 8 others, Ricevuto, E., Russo, A., Sapino, A., Tagliaferri, P., Tassone, P., Trevisiol, C., Truini, M. & Varesco, L., Jan 1 2019, In : Biochimica Clinica. 43, 3

Research output: Contribution to journalArticle

2018

A possible role of FANCM mutations in male breast cancer susceptibility: Results from a multicenter study in Italy

Silvestri, V., Rizzolo, P., Zelli, V., Valentini, V., Zanna, I., Bianchi, S., Tibiletti, M. G., Varesco, L., Russo, A., Tommasi, S., Coppa, A., Capalbo, C., Calistri, D., Viel, A., Cortesi, L., Manoukian, S., Bonanni, B., Montagna, M., Palli, D., Radice, P. & 2 others, Peterlongo, P. & Ottini, L., Apr 2018, In : Breast. 38, p. 92-97 6 p.

Research output: Contribution to journalArticle

Male Breast Neoplasms
Italy
Multicenter Studies
Mutation
Breast Neoplasms
6 Citations (Scopus)

A possible role of FANCM mutations in male breast cancer susceptibility: Results from a multicenter study in Italy

Silvestri, V., Rizzolo, P., Zelli, V., Valentini, V., Zanna, I., Bianchi, S., Tibiletti, M. G., Varesco, L., Russo, A., Tommasi, S., Coppa, A., Capalbo, C., Calistri, D., Viel, A., Cortesi, L., Manoukian, S., Bonanni, B., Montagna, M., Palli, D., Radice, P. & 2 others, Peterlongo, P. & Ottini, L., Apr 1 2018, In : Breast. 38, p. 92-97 6 p.

Research output: Contribution to journalArticle

Male Breast Neoplasms
Italy
Multicenter Studies
Mutation
Breast Neoplasms

A possible role of FANCM mutations in male breast cancer susceptibility: Results from a multicenter study in Italy

Silvestri, V., Rizzolo, P., Zelli, V., Valentini, V., Zanna, I., Bianchi, S., Tibiletti, M. G., Varesco, L., Russo, A., Tommasi, S., Coppa, A., Capalbo, C., Calistri, D., Viel, A., Cortesi, L., Manoukian, S., Bonanni, B., Montagna, M., Palli, D., Radice, P. & 2 others, Peterlongo, P. & Ottini, L., 2018, In : Breast. 38, p. 92-97 6 p.

Research output: Contribution to journalArticle

Male Breast Neoplasms
Italy
Multicenter Studies
Mutation
Breast Neoplasms

A possible role of FANCM mutations in male breast cancer susceptibility: Results from a multicenter study in Italy

Silvestri, V., Rizzolo, P., Zelli, V., Valentini, V., Zanna, I., Bianchi, S., Tibiletti, M. G., Varesco, L., Russo, A., Tommasi, S., Coppa, A., Capalbo, C., Calistri, D., Viel, A., Cortesi, L., Manoukian, S., Bonanni, B., Montagna, M., Palli, D., Radice, P. & 2 others, Peterlongo, P. & Ottini, L., 2018, In : Breast. 38, p. 92-97 6 p.

Research output: Contribution to journalArticle

A possible role of FANCM mutations in male breast cancer susceptibility: Results from a multicenter study in Italy

Silvestri, V., Rizzolo, P., Zelli, V., Valentini, V., Zanna, I., Bianchi, S., Tibiletti, M. G., Varesco, L., Russo, A., Tommasi, S., Coppa, A., Capalbo, C., Calistri, D., Viel, A., Cortesi, L., Manoukian, S., Bonanni, B., Montagna, M., Palli, D., Radice, P. & 2 others, Peterlongo, P. & Ottini, L., 2018, In : Breast. 38, p. 92-97 6 p.

Research output: Contribution to journalArticle

7 Citations (Scopus)

Colorectal cancer early methylation alterations affect the crosstalk between cell and surrounding environment, tracing a biomarker signature specific for this tumor

Fadda, A., Gentilini, D., Moi, L., Barault, L., Leoni, V. P., Sulas, P., Zorcolo, L., Restivo, A., Cabras, F., Fortunato, F., Zavattari, C., Varesco, L., Gismondi, V., De Miglio, M. R., Scanu, A. M., Colombi, F., Lombardi, P., Sarotto, I., Loi, E., Leone, F. & 4 others, Giordano, S., Di Nicolantonio, F., Columbano, A. & Zavattari, P., Aug 15 2018, In : International Journal of Cancer. 143, 4, p. 907-920 14 p.

Research output: Contribution to journalArticle

Methylation
Colorectal Neoplasms
Biomarkers
Adenoma
Neoplasms

Colorectal cancer early methylation alterations affect the crosstalk between cell and surrounding environment, tracing a biomarker signature specific for this tumor

Fadda, A., Gentilini, D., Moi, L., Barault, L., Leoni, V. P., Sulas, P., Zorcolo, L., Restivo, A., Cabras, F., Fortunato, F., Zavattari, C., Varesco, L., Gismondi, V., De Miglio, M. R., Scanu, A. M., Colombi, F., Lombardi, P., Sarotto, I., Loi, E., Leone, F. & 4 others, Giordano, S., Di Nicolantonio, F., Columbano, A. & Zavattari, P., Aug 15 2018, In : International Journal of Cancer. 143, 4, p. 907-920 14 p.

Research output: Contribution to journalArticle

Contribution of MUTYH Variants to Male Breast Cancer Risk: Results From a Multicenter Study in Italy

Rizzolo, P., Silvestri, V., Bucalo, A., Zelli, V., Valentini, V., Catucci, I., Zanna, I., Masala, G., Bianchi, S., Spinelli, A. M., Tommasi, S., Tibiletti, M. G., Russo, A., Varesco, L., Coppa, A., Calistri, D., Cortesi, L., Viel, A., Bonanni, B., Azzollini, J. & 6 others, Manoukian, S., Montagna, M., Radice, P., Palli, D., Peterlongo, P. & Ottini, L., Dec 4 2018, In : Frontiers in Oncology. 8, p. 583

Research output: Contribution to journalArticle

Male Breast Neoplasms
Italy
Multicenter Studies
Breast Neoplasms
DNA Repair

Contribution of MUTYH Variants to Male Breast Cancer Risk: Results From a Multicenter Study in Italy

Rizzolo, P., Silvestri, V., Bucalo, A., Zelli, V., Valentini, V., Catucci, I., Zanna, I., Masala, G., Bianchi, S., Spinelli, A. M., Tommasi, S., Tibiletti, M. G., Russo, A., Varesco, L., Coppa, A., Calistri, D., Cortesi, L., Viel, A., Bonanni, B., Azzollini, J. & 6 others, Manoukian, S., Montagna, M., Radice, P., Palli, D., Peterlongo, P. & Ottini, L., 2018, In : Frontiers in Oncology. 8

Research output: Contribution to journalArticle

Male Breast Neoplasms
Italy
Multicenter Studies
Breast Neoplasms
DNA Repair

Contribution of MUTYH Variants to Male Breast Cancer Risk: Results From a Multicenter Study in Italy

Rizzolo, P., Silvestri, V., Bucalo, A., Zelli, V., Valentini, V., Catucci, I., Zanna, I., Masala, G., Bianchi, S., Spinelli, A. M., Tommasi, S., Tibiletti, M. G., Russo, A., Varesco, L., Coppa, A., Calistri, D., Cortesi, L., Viel, A., Bonanni, B., Azzollini, J. & 6 others, Manoukian, S., Montagna, M., Radice, P., Polli, D., Peterlongo, P. & Ottini, L., Dec 4 2018, In : Frontiers in Oncology. 8

Research output: Contribution to journalArticle

Letter to the Editor: Response to Cox (2018)

Gavaruzzi, T., Tasso, A., Franiuk, M., Varesco, L. & Lotto, L., Jan 1 2018, (Accepted/In press) In : Journal of Genetic Counseling.

Research output: Contribution to journalArticle

Leucocytes telomere length and breast cancer risk/ susceptibility: A case-control study

Pavanello, S., Varesco, L., Gismondi, V., Bruzzi, P. & Bolognesi, C., May 1 2018, In : PLoS One. 13, 5, e0197522.

Research output: Contribution to journalArticle

telomeres
Telomere
case-control studies
breast neoplasms
Case-Control Studies

Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations

Rebbeck, T. R., Friebel, T. M., Friedman, E., Hamann, U., Huo, D., Kwong, A., Olah, E., Olopade, O. I., Solano, A. R., Teo, S-H., Thomassen, M., Weitzel, J. N., Chan, T. L., Couch, F. J., Goldgar, D. E., Kruse, T. A., Palmero, E. I., Park, S. K., Torres, D., van Rensburg, E. J. & 225 others, McGuffog, L., Parsons, M. T., Leslie, G., Aalfs, C. M., Abugattas, J., Adlard, J., Agata, S., Aittomäki, K., Andrews, L., Andrulis, I. L., Arason, A., Arnold, N., Arun, B. K., Asseryanis, E., Auerbach, L., Azzollini, J., Balmaña, J., Barile, M., Barkardottir, R. B., Barrowdale, D., Benitez, J., Berger, A., Berger, R., Blanco, A. M., Blazer, K. R., Blok, M. J., Bonadona, V., Bonanni, B., Bradbury, A. R., Brewer, C., Buecher, B., Buys, S. S., Caldes, T., Caliebe, A., Caligo, M. A., Campbell, I., Caputo, S. M., Chiquette, J., Chung, W. K., Claes, K. B. M., Collée, J. M., Cook, J., Davidson, R., de la Hoya, M., De Leeneer, K., de Pauw, A., Delnatte, C., Diez, O., Ding, Y. C., Ditsch, N., Domchek, S. M., Dorfling, C. M., Velazquez, C., Dworniczak, B., Eason, J., Easton, D. F., Eeles, R., Ehrencrona, H., Ejlertsen, B., Engel, C., Engert, S., Evans, D. G., Faivre, L., Feliubadaló, L., Ferrer, S. F., Foretova, L., Fowler, J., Frost, D., Galvão, H. C. R., Ganz, P. A., Garber, J., Gauthier-Villars, M., Gehrig, A., Gerdes, A-M., Gesta, P., Giannini, G., Giraud, S., Glendon, G., Godwin, A. K., Greene, M. H., Gronwald, J., Gutierrez-Barrera, A., Hahnen, E., Hauke, J., Henderson, A., Hentschel, J., Hogervorst, F. B. L., Honisch, E., Imyanitov, E. N., Isaacs, C., Izatt, L., Izquierdo, A., Jakubowska, A., James, P., Janavicius, R., Jensen, U. B., John, E. M., Vijai, J., Kaczmarek, K., Karlan, B. Y., Kast, K., Investigators, K., Kim, S-W., Konstantopoulou, I., Korach, J., Laitman, Y., Lasa, A., Lasset, C., Lázaro, C., Lee, A., Lee, M. H., Lester, J., Lesueur, F., Liljegren, A., Lindor, N. M., Longy, M., Loud, J. T., Lu, K. H., Lubinski, J., Machackova, E., Manoukian, S., Mari, V., Martínez-Bouzas, C., Matrai, Z., Mebirouk, N., Meijers-Heijboer, H. E. J., Meindl, A., Mensenkamp, A. R., Mickys, U., Miller, A., Montagna, M., Moysich, K. B., Mulligan, A. M., Musinsky, J., Neuhausen, S. L., Nevanlinna, H., Ngeow, J., Nguyen, H. P., Niederacher, D., Nielsen, H. R., Nielsen, F. C., Nussbaum, R. L., Offit, K., Öfverholm, A., Ong, K-R., Osorio, A., Papi, L., Papp, J., Pasini, B., Pedersen, I. S., Peixoto, A., Peruga, N., Peterlongo, P., Pohl, E., Pradhan, N., Prajzendanc, K., Prieur, F., Pujol, P., Radice, P., Ramus, S. J., Rantala, J., Rashid, M. U., Rhiem, K., Robson, M., Rodriguez, G. C., Rogers, M. T., Rudaitis, V., Schmidt, A. Y., Schmutzler, R. K., Senter, L., Shah, P. D., Sharma, P., Side, L. E., Simard, J., Singer, C. F., Skytte, A-B., Slavin, T. P., Snape, K., Sobol, H., Southey, M., Steele, L., Steinemann, D., Sukiennicki, G., Sutter, C., Szabo, C. I., Tan, Y. Y., Teixeira, M. R., Terry, M. B., Teulé, A., Thomas, A., Thull, D. L., Tischkowitz, M., Tognazzo, S., Toland, A. E., Topka, S., Trainer, A. H., Tung, N., van Asperen, C. J., van der Hout, A. H., van der Kolk, L. E., van der Luijt, R. B., Van Heetvelde, M., Varesco, L., Varon-Mateeva, R., Vega, A., Villarreal-Garza, C., von Wachenfeldt, A., Walker, L., Wang-Gohrke, S., Wappenschmidt, B., Weber, B. H. F., Yannoukakos, D., Yoon, S-Y., Zanzottera, C., Zidan, J., Zorn, K. K., Hutten Selkirk, C. G., Hulick, P. J., Chenevix-Trench, G., Spurdle, A. B., Antoniou, A. C., Nathanson, K. L., [No Value], EMBRACE., Collaborators, GEMO. S. & [No Value], HEBON., 2018, In : Human Mutation. 39, 5, p. 593-620 28 p.

Research output: Contribution to journalArticle

Mutation
Population
Research Personnel
Germ-Line Mutation
Genetic Testing

Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations

Rebbeck, T. R., Friebel, T. M., Friedman, E., Hamann, U., Huo, D., Kwong, A., Olah, E., Olopade, O. I., Solano, A. R., Teo, S-H., Thomassen, M., Weitzel, J. N., Chan, T. L., Couch, F. J., Goldgar, D. E., Kruse, T. A., Palmero, E. I., Park, S. K., Torres, D., van Rensburg, E. J. & 225 others, McGuffog, L., Parsons, M. T., Leslie, G., Aalfs, C. M., Abugattas, J., Adlard, J., Agata, S., Aittomäki, K., Andrews, L., Andrulis, I. L., Arason, A., Arnold, N., Arun, B. K., Asseryanis, E., Auerbach, L., Azzollini, J., Balmaña, J., Barile, M., Barkardottir, R. B., Barrowdale, D., Benitez, J., Berger, A., Berger, R., Blanco, A. M., Blazer, K. R., Blok, M. J., Bonadona, V., Bonanni, B., Bradbury, A. R., Brewer, C., Buecher, B., Buys, S. S., Caldes, T., Caliebe, A., Caligo, M. A., Campbell, I., Caputo, S. M., Chiquette, J., Chung, W. K., Claes, K. B. M., Collée, J. M., Cook, J., Davidson, R., de la Hoya, M., De Leeneer, K., de Pauw, A., Delnatte, C., Diez, O., Ding, Y. C., Ditsch, N., Domchek, S. M., Dorfling, C. M., Velazquez, C., Dworniczak, B., Eason, J., Easton, D. F., Eeles, R., Ehrencrona, H., Ejlertsen, B., Engel, C., Engert, S., Evans, D. G., Faivre, L., Feliubadaló, L., Ferrer, S. F., Foretova, L., Fowler, J., Frost, D., Galvão, H. C. R., Ganz, P. A., Garber, J., Gauthier-Villars, M., Gehrig, A., Gerdes, A-M., Gesta, P., Giannini, G., Giraud, S., Glendon, G., Godwin, A. K., Greene, M. H., Gronwald, J., Gutierrez-Barrera, A., Hahnen, E., Hauke, J., Henderson, A., Hentschel, J., Hogervorst, F. B. L., Honisch, E., Imyanitov, E. N., Isaacs, C., Izatt, L., Izquierdo, A., Jakubowska, A., James, P., Janavicius, R., Jensen, U. B., John, E. M., Vijai, J., Kaczmarek, K., Karlan, B. Y., Kast, K., Investigators, K., Kim, S-W., Konstantopoulou, I., Korach, J., Laitman, Y., Lasa, A., Lasset, C., Lázaro, C., Lee, A., Lee, M. H., Lester, J., Lesueur, F., Liljegren, A., Lindor, N. M., Longy, M., Loud, J. T., Lu, K. H., Lubinski, J., Machackova, E., Manoukian, S., Mari, V., Martínez-Bouzas, C., Matrai, Z., Mebirouk, N., Meijers-Heijboer, H. E. J., Meindl, A., Mensenkamp, A. R., Mickys, U., Miller, A., Montagna, M., Moysich, K. B., Mulligan, A. M., Musinsky, J., Neuhausen, S. L., Nevanlinna, H., Ngeow, J., Nguyen, H. P., Niederacher, D., Nielsen, H. R., Nielsen, F. C., Nussbaum, R. L., Offit, K., Öfverholm, A., Ong, K-R., Osorio, A., Papi, L., Papp, J., Pasini, B., Pedersen, I. S., Peixoto, A., Peruga, N., Peterlongo, P., Pohl, E., Pradhan, N., Prajzendanc, K., Prieur, F., Pujol, P., Radice, P., Ramus, S. J., Rantala, J., Rashid, M. U., Rhiem, K., Robson, M., Rodriguez, G. C., Rogers, M. T., Rudaitis, V., Schmidt, A. Y., Schmutzler, R. K., Senter, L., Shah, P. D., Sharma, P., Side, L. E., Simard, J., Singer, C. F., Skytte, A-B., Slavin, T. P., Snape, K., Sobol, H., Southey, M., Steele, L., Steinemann, D., Sukiennicki, G., Sutter, C., Szabo, C. I., Tan, Y. Y., Teixeira, M. R., Terry, M. B., Teulé, A., Thomas, A., Thull, D. L., Tischkowitz, M., Tognazzo, S., Toland, A. E., Topka, S., Trainer, A. H., Tung, N., van Asperen, C. J., van der Hout, A. H., van der Kolk, L. E., van der Luijt, R. B., Van Heetvelde, M., Varesco, L., Varon-Mateeva, R., Vega, A., Villarreal-Garza, C., von Wachenfeldt, A., Walker, L., Wang-Gohrke, S., Wappenschmidt, B., Weber, B. H. F., Yannoukakos, D., Yoon, S-Y., Zanzottera, C., Zidan, J., Zorn, K. K., Hutten Selkirk, C. G., Hulick, P. J., Chenevix-Trench, G., Spurdle, A. B., Antoniou, A. C., Nathanson, K. L., [No Value], EMBRACE., Collaborators, GEMO. S. & [No Value], HEBON., 2018, In : Human Mutation. 39, 5, p. 593-620 28 p.

Research output: Contribution to journalArticle

Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations

EMBRACE, May 2018, In : Human Mutation. 39, 5, p. 593-620 28 p.

Research output: Contribution to journalArticle

Mutation
Population
Research Personnel
Germ-Line Mutation
Genetic Testing
49 Citations (Scopus)

Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations

EMBRACE, GEMO Study Collaborators & HEBON, May 1 2018, In : Human Mutation. 39, 5, p. 593-620 28 p.

Research output: Contribution to journalArticle

Mutation
Population
Research Personnel
Germ-Line Mutation
Genetic Testing
5 Citations (Scopus)

The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity

kConFab/AOCS Investigators, May 1 2018, In : Human Mutation. 39, 5, p. 729-741 13 p.

Research output: Contribution to journalArticle

Calibration
Exons
Protein Isoforms
Neoplasms
Causality

The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity

kConFab/AOCS Investigators, May 2018, In : Human Mutation. 39, 5, p. 729-741 13 p.

Research output: Contribution to journalArticle

Calibration
Exons
Protein Isoforms
Neoplasms
Causality

The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity

Colombo, M., Lòpez-Perolio, I., Meeks, H. D., Caleca, L., Parsons, M. T., Li, H., De Vecchi, G., Tudini, E., Foglia, C., Mondini, P., Manoukian, S., Behar, R., Garcia, E. B. G., Meindl, A., Montagna, M., Niederacher, D., Schmidt, A. Y., Varesco, L., Wappenschmidt, B., Bolla, M. K. & 95 others, Dennis, J., Michailidou, K., Wang, Q., Aittomäki, K., Andrulis, I. L., Anton-Culver, H., Arndt, V., Beckmann, M. W., Beeghly-Fadel, A., Benitez, J., Boeckx, B., Bogdanova, N. V., Bojesen, S. E., Bonanni, B., Brauch, H., Brenner, H., Burwinkel, B., Chang-Claude, J., Conroy, D. M., Couch, F. J., Cox, A., Cross, S. S., Czene, K., Devilee, P., Dörk, T., Eriksson, M., Fasching, P. A., Figueroa, J., Fletcher, O., Flyger, H., Gabrielson, M., García-Closas, M., Giles, G. G., González-Neira, A., Guénel, P., Haiman, C. A., Hall, P., Hamann, U., Hartman, M., Hauke, J., Hollestelle, A., Hopper, J. L., Jakubowska, A., Jung, A., Kosma, V-M., Lambrechts, D., Le Marchand, L., Lindblom, A., Lubinski, J., Mannermaa, A., Margolin, S., Miao, H., Milne, R. L., Neuhausen, S. L., Nevanlinna, H., Olson, J. E., Peterlongo, P., Peto, J., Pylkäs, K., Sawyer, E. J., Schmidt, M. K., Schmutzler, R. K., Schneeweiss, A., Schoemaker, M. J., See, M. H., Southey, M. C., Swerdlow, A., Teo, S. H., Toland, A. E., Tomlinson, I., Truong, T., van Asperen, C. J., van den Ouweland, A. M. W., van der Kolk, L. E., Winqvist, R., Yannoukakos, D., Zheng, W., Dunning, A. M., Easton, D. F., Henderson, A., Hogervorst, F. B. L., Izatt, L., Offitt, K., Side, L. E., van Rensburg, E. J., Embrace, S., Hebon, S., McGuffog, L., Antoniou, A. C., Chenevix-Trench, G., Spurdle, A. B., Goldgar, D. E., Hoya, M. D. L., Radice, P. & Investigators, KCAOCS., 2018, In : Human Mutation. 39, 5, p. 729-741 13 p.

Research output: Contribution to journalArticle

Calibration
Exons
Protein Isoforms
Neoplasms
Causality

The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity

Colombo, M., Lòpez-Perolio, I., Meeks, H. D., Caleca, L., Parsons, M. T., Li, H., De Vecchi, G., Tudini, E., Foglia, C., Mondini, P., Manoukian, S., Behar, R., Garcia, E. B. G., Meindl, A., Montagna, M., Niederacher, D., Schmidt, A. Y., Varesco, L., Wappenschmidt, B., Bolla, M. K. & 94 others, Dennis, J., Michailidou, K., Wang, Q., Aittomäki, K., Andrulis, I. L., Anton-Culver, H., Arndt, V., Beckmann, M. W., Beeghly-Fadel, A., Benitez, J., Boeckx, B., Bogdanova, N. V., Bojesen, S. E., Bonanni, B., Brauch, H., Brenner, H., Burwinkel, B., Chang-Claude, J., Conroy, D. M., Couch, F. J., Cox, A., Cross, S. S., Czene, K., Devilee, P., Dörk, T., Eriksson, M., Fasching, P. A., Figueroa, J., Fletcher, O., Flyger, H., Gabrielson, M., García-Closas, M., Giles, G. G., González-Neira, A., Guénel, P., Haiman, C. A., Hall, P., Hamann, U., Hartman, M., Hauke, J., Hollestelle, A., Hopper, J. L., Jakubowska, A., Jung, A., Kosma, V-M., Lambrechts, D., Le Marchand, L., Lindblom, A., Lubinski, J., Mannermaa, A., Margolin, S., Miao, H., Milne, R. L., Neuhausen, S. L., Nevanlinna, H., Olson, J. E., Peterlongo, P., Peto, J., Pylkäs, K., Sawyer, E. J., Schmidt, M. K., Schmutzler, R. K., Schneeweiss, A., Schoemaker, M. J., See, M. H., Southey, M. C., Swerdlow, A., Teo, S. H., Toland, A. E., Tomlinson, I., Truong, T., van Asperen, C. J., van den Ouweland, A. M. W., van der Kolk, L. E., Winqvist, R., Yannoukakos, D., Zheng, W., Dunning, A. M., Easton, D. F., Henderson, A., Hogervorst, F. B. L., Izatt, L., Offitt, K., Side, L. E., van Rensburg, E. J., Embrace, S., Hebon, S., McGuffog, L., Antoniou, A. C., Chenevix-Trench, G., Spurdle, A. B., Goldgar, D. E., Hoya, M. D. L. & Radice, P., 2018, In : Human Mutation. 39, 5, p. 729-741 13 p.

Research output: Contribution to journalArticle

2017
3 Citations (Scopus)

A novel APC promoter 1B deletion shows a founder effect in Italian patients with classical familial adenomatous polyposis phenotype

Marabelli, M., Gismondi, V., Ricci, M. T., Vetro, A., Khouzam, R. A., Rea, V., Vitellaro, M., Zuffardi, O., Varesco, L. & Ranzani, G. N., Dec 1 2017, In : Genes Chromosomes and Cancer. 56, 12, p. 846-854 9 p.

Research output: Contribution to journalArticle

Founder Effect
Adenomatous Polyposis Coli
Nucleic Acid Regulatory Sequences
Phenotype
Adenomatous Polyps
3 Citations (Scopus)

A novel APC promoter 1B deletion shows a founder effect in Italian patients with classical familial adenomatous polyposis phenotype

Marabelli, M., Gismondi, V., Ricci, M. T., Vetro, A., Abou Khouzam, R., Rea, V., Vitellaro, M., Zuffardi, O., Varesco, L. & Ranzani, G. N., Dec 1 2017, In : Genes Chromosomes and Cancer. 56, 12, p. 846-854 9 p.

Research output: Contribution to journalArticle

Founder Effect
Adenomatous Polyposis Coli
Nucleic Acid Regulatory Sequences
Phenotype
Adenomatous Polyps
3 Citations (Scopus)

A novel APC promoter 1B deletion shows a founder effect in Italian patients with classical familial adenomatous polyposis phenotype

Marabelli, M., Gismondi, V., Ricci, M. T., Vetro, A., Abou Khouzam, R., Rea, V., Vitellaro, M., Zuffardi, O., Varesco, L. & Ranzani, G. N., Dec 2017, In : Genes Chromosomes and Cancer. 56, 12, p. 846-854 9 p.

Research output: Contribution to journalArticle

Founder Effect
Adenomatous Polyposis Coli
Nucleic Acid Regulatory Sequences
Phenotype
Adenomatous Polyps
4 Citations (Scopus)
Ovariectomy
Psychology
Mutation
Population
Pamphlets
18 Citations (Scopus)

BRCA2 hypomorphic missense variants confer moderate risks of breast cancer

Shimelis, H., Mesman, R. L. S., Von Nicolai, C., Ehlen, A., Guidugli, L., Martin, C., Calléja, F. M. G. R., Meeks, H. D., Hallberg, E., Hinton, J., Lilyquist, J., Hu, C., Aalfs, C. M., Aittomäki, K., Andrulis, I. L., Anton-Culver, H., Arndt, V., Beckmann, M. W., Benitez, J., Bogdanova, N. V. & 32 others, Bojesen, S. E., Bolla, M. K., Borresen-Dale, A. L., Brauch, H., Brennan, P., Brenner, H., Broeks, A., Brouwers, B., Brüning, T., Burwinkel, B., Chang-Claude, J., Chenevix-Trench, G., Cheng, C. Y., Choi, J. Y., Collée, J. M., Cox, A., Cross, S., Czene, K., Darabi, H., Dennis, J., Dörk, T., Dos-Santos-Silva, I., Dunning, A. M., Fasching, P. A., Figueroa, J., Flyger, H., García-Closas, M., Giles, G., Radice, P., Varesco, L., kConFab/AOCS Investigators & NBCS Collaborators, Jun 1 2017, In : Cancer Research. 77, 11, p. 2789-2799 11 p.

Research output: Contribution to journalArticle

Breast Neoplasms
BRCA2 Gene
BRCA1 Gene
Risk Management
Case-Control Studies
18 Citations (Scopus)

BRCA2 Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer

Shimelis, H., Mesman, R. L. S., Von Nicolai, C., Ehlen, A., Guidugli, L., Martin, C., Calléja, F. M. G. R., Meeks, H., Hallberg, E., Hinton, J., Lilyquist, J., Hu, C., Aalfs, C. M., Aittomäki, K., Andrulis, I., Anton-Culver, H., Arndt, V., Beckmann, M. W., Benitez, J., Bogdanova, N. V. & 31 others, Bojesen, S. E., Bolla, M. K., Borresen-Dale, A-L., Brauch, H., Brennan, P., Brenner, H., Broeks, A., Brouwers, B., Brüning, T., Burwinkel, B., Chang-Claude, J., Chenevix-Trench, G., Cheng, C-Y., Choi, J-Y., Collée, J. M., Cox, A., Cross, S. S., Czene, K., Darabi, H., Dennis, J., Dörk, T., Dos-Santos-Silva, I., Dunning, A. M., Fasching, P. A., Figueroa, J., Flyger, H., García-Closas, M., Giles, G. G., Radice, P., Varesco, L. & for kConFab/AOCS Investigators, Jun 1 2017, In : Cancer Research. 77, 11, p. 2789-2799 11 p.

Research output: Contribution to journalArticle

Breast Neoplasms
BRCA2 Gene
BRCA1 Gene
Risk Management
Case-Control Studies
66 Citations (Scopus)

Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer

Milne, R. L., Kuchenbaecker, K. B., Michailidou, K., Beesley, J., Kar, S., Lindström, S., Hui, S., Lemaçon, A., Soucy, P., Dennis, J., Jiang, X., Rostamianfar, A., Finucane, H., Bolla, M. K., McGuffog, L., Wang, Q., Aalfs, C. M., Adams, M., Adlard, J., Agata, S. & 31 others, Ahmed, S., Ahsan, H., Aittomäki, K., Al-Ejeh, F., Allen, J., Ambrosone, C. B., Amos, C. I., Andrulis, I. L., Anton-Culver, H., Antonenkova, N. N., Arndt, V., Arnold, N., Aronson, K. J., Auber, B., Auer, P. L., Ausems, M. G. E. M., Azzollini, J., Bacot, F., Balmaña, J., Barile, M., Barjhoux, L., Barkardottir, R. B., Bonanni, B., Manoukian, S., Montagna, M., Peissel, B., Radice, P., Varesco, L., Viel, A., Zaffaroni, D. & ABCTB Investigators, Dec 2017, In : Nature Genetics. 49, 12, p. 1767-1778 12 p.

Research output: Contribution to journalArticle

Estrogen Receptors
Breast Neoplasms
Genome-Wide Association Study
Mutation
Disease Susceptibility
66 Citations (Scopus)

Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer

Milne, R. L., Kuchenbaecker, K. B., Michailidou, K., Beesley, J., Kar, S., Lindström, S., Hui, S., Lemaçon, A., Soucy, P., Dennis, J., Jiang, X., Rostamianfar, A., Finucane, H., Bolla, M. K., McGuffog, L., Wang, Q., Aalfs, C. M., Adams, M., Adlard, J., Agata, S. & 30 others, Ahmed, S., Ahsan, H., Aittomäki, K., Al-Ejeh, F., Allen, J., Ambrosone, C. B., Amos, C. I., Andrulis, I. L., Anton-Culver, H., Antonenkova, N. N., Arndt, V., Arnold, N., Aronson, K. J., Auber, B., Auer, P. L., Ausems, M. G. E. M., Azzollini, J., Bacot, F., Balmaña, J., Barile, M., Barjhoux, L., Barkardottir, R. B., Bonanni, B., Manoukian, S., Montagna, M., Peissel, B., Radice, P., Varesco, L., Viel, A. & Zaffaroni, D., Dec 2017, In : Nature Genetics. 49, 12, p. 1767-1778 12 p.

Research output: Contribution to journalArticle

Estrogen Receptors
Breast Neoplasms
Genome-Wide Association Study
Mutation
Disease Susceptibility
66 Citations (Scopus)

Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer

Milne, R. L., Kuchenbaecker, K. B., Michailidou, K., Beesley, J., Kar, S., Lindstrom, S., Hui, S., Lemaçon, A., Soucy, P., Dennis, J., Jiang, X., Rostamianfar, A., Finucane, H., Bolla, M. K., McGuffog, L., Wang, Q., Aalfs, C. M., Abctctb, I., Adams, M., Adlard, J. & 702 others, Agata, S., Ahmed, S., Ahsan, H., Aittom, K. Ä., Fares, A. E., Allen, J., Ambrosone, C. B., Amos, C. I., Andrulis, I. L., Anton-Culver, H., Antonenkova, N. N., Arndt, V., Arnold, N., Aronson, K. J., Auber, B., Auer, P. L., Ausems, M. G. M., Azzollini, J., François, B., Balma, J. N., Barile, M., Barjhoux, L., Barkardottir, R. B., Barrdahl, M., Barnes, D., Barrowdale, D., Baynes, C., Beckmann, M. W., Benitez, J., Bermisheva, M., Bernstein, L., Bignon, Y. J., Blazer, K. R., Blok, M. J., Blomqvist, C., Blot, W., Bobolis, K., Boeckx, B., Bogdanova, N. V., Bojesen, A., Bojesen, S. E., Bonanni, B., Anne-Lise, B. D., Bozsik, A., Bradbury, A. R., Brand, J. S., Brauch, H., Brenner, H., Brigitte, B. D. P., Brewer, C., Brinton, L., Broberg, P., Angela, B. W., Brunet, J., Brüning, T., Burwinkel, B., Buys, S. S., Byun, J., Cai, Q., Cald, T. É., Caligo, M. A., Campbell, I., Canzian, F., Caron, O., Carracedo, A., Carter, B. D., Esteban, C., Castera, L., Virginie, C. M., Chan, S. B., Jenny, C. C., Chanock, S. J., Chen, X., Cheng, T. Y. D., Chiquette, J., Christiansen, H., Claes, K. B., Clarke, C. L., Conner, T., Conroy, D. M., Cook, J., Cordina-Duverger, E., Cornelissen, S., Coupier, I., Cox, A., Cox, D. G., Cross, S. S., Cuk, K., Cunningham, J. M., Czene, K., Daly, M. B., Damiola, F., Darabi, H., Davidson, R., Leeneer, K. D. L., Devilee, P., Dicks, E., Diez, O., Ding, Y. C., Ditsch, N., Doheny, K. F., Domchek, S. M., Dorfling, C. M., Dörk, T., Dos-Santos-Silva, I., Dubois, S., Dugué, P. A., Dumont, M., Dunning, A. M., Durcan, L., Dwek, M., Dworniczak, B., Eccles, D., Eeles, R., Ehrencrona, H., Eilber, U., Ejlertsen, B., Ekici, A. B., Eliassen, A. H., Engel, C., Eriksson, M., Fachal, L., Faivre, L., Fasching, P. A., Faust, U., Figueroa, J., Flesch-Janys, D., Fletcher, O., Flyger, H., Foulkes, W. D., Friedman, E., Fritschi, L., Frost, D., Gabrielson, M., Gaddam, P., Gammon, M. D., Ganz, P. A., Gapstur, S. M., Garber, J., Garcia-Barberan, V., Garciá-Saénz, J. A., Gaudet, M. M., Gauthier-Villars, M., Gehrig, A., Georgoulias, V., Gerdes, A. M., Giles, G. G., Glendon, G., Godwin, A. K., Goldberg, M. S., Goldgar, D. E., González-Neira, A., Goodfellow, P., Greene, M. H., Grenaker, G. A. I., Grip, M., Gronwald, J., Grundy, A., Gschwantler, D. K., Guénel, P., Guo, Q., Haeberle, L., Hahnen, E., Haiman, C. A., Håkansson, N., Hallberg, E., Hamann, U., Hamel, N., Hankinson, S., Hansen, T. V., Harrington, P., Hart, S. N., Hartikainen, J. M., Healey, C. S., Hein, A., Helbig, S., Henderson, A., Heyworth, J., Hicks, B., Hillemanns, P., Hodgson, S., Hogervorst, F. B., Hollestelle, A., Hooning, M. J., Hoover, B., Hopper, J. L., Hu, C., Huang, G., Hulick, P. J., Humphreys, K., Hunter, D. J., Imyanitov, E. N., Isaacs, C., Iwasaki, M., Izatt, L., Jakubowska, A., James, P., Janavicius, R., Janni, W., Jensen, U. B., John, E. M., Johnson, N., Jones, K., Jones, M., Jukkola-Vuorinen, A., Kaaks, R., Kabisch, M., Kaczmarek, K., Kang, D., Kast, K., Keeman, R., Kerin, M. J., Kets, C. M., Keupers, M. H., Khan, S., Khusnutdinova, E., Kiiski, J. I., Kim, S. W., Knight, J. A., Konstantopoulou, I., Kosma, V. M., Kristensen, V. N., Kruse, T. A., Kwong, A., Lænkholm, A. V., Laitman, Y., Lalloo, F., Lambrechts, D., Landsman, K., Lasset, C., Lazaro, C., Marchand, L. L., Milne, R. L., Kuchenbaecker, K. B., Michailidou, K., Beesley, J., Kar, S., Lindström, S., Hui, S., Lemaçon, A., Soucy, P., Dennis, J., Jiang, X., Rostamianfar, A., Finucane, H., Bolla, M. K., McGuffog, L., Wang, Q., Aalfs, C. M., Adams, M., Adlard, J., Agata, S., Ahmed, S., Ahsan, H., Aittom, K. Ä., Al-Ejeh, F., Allen, J., Ambrosone, C. B., Amos, C. I., Andrulis, I. L., Anton-Culver, H., Antonenkova, N. N., Arndt, V., Arnold, N., Aronson, K. J., Auber, B., Auer, P. L., Margreet, G. M. A., Azzollini, J., Bacot, F., Balma, J. N., Barile, M., Barjhoux, L., Barkardottir, R. B., Barrdahl, M., Barnes, D., Barrowdale, D., Baynes, C., Beckmann, M. W., Benitez, J., Bermisheva, M., Bernstein, L., Bignon, Y. J., Blazer, K. R., Blok, M. J., Blomqvist, C., Blot, W., Bobolis, K., Boeckx, B., Bogdanova, N. V., Bojesen, A., Bojesen, S. E., Bonanni, B., Børresen-Dale, A. L., Bozsik, A., Bradbury, A. R., Brand, J. S., Brauch, H., Brenner, H., Bressac-De, B. P., Brewer, C., Brinton, L., Broberg, P., Brooks-Wilson, A., Brunet, J., Brüning, T., Burwinkel, B., Buys, S. S., Byun, J., Cai, Q., Cald, T. É., Caligo, M. A., Campbell, I., Canzian, F., Caron, O., Carracedo, A., Carter, B. D., Castelao, J. E., Castera, L., Caux-Moncoutier, V., Chan, S. B., Chang-Claude, J., Chanock, S. J., Chen, X., Cheng, T. Y. D., Chiquette, J., Christiansen, H., McLaes, K. B., Clarke, C. L., Conner, T., Conroy, D. M., Cook, J., Cordina-Duverger, E., Cornelissen, S., Coupier, I., Cox, A., Cox, D. G., Cross, S. S., Cuk, K., Cunningham, J. M., Czene, K., Daly, M. B., Damiola, F., Darabi, H., Davidson, R., Leeneer, K. D., Devilee, P., Dicks, E., Diez, O., Ding, Y. C., Ditsch, N., Doheny, K. F., Domchek, S. M., Dorfling, C. M., Dörk, T., Dos-Santos-Silva, I., Dubois, S., Dugué, P. A., Dumont, M., Dunning, A. M., Durcan, L., Dwek, M., Dworniczak, B., Eccles, D., Eeles, R., Ehrencrona, H., Eilber, U., Ejlertsen, B., Ekici, A. B., Eliassen, A. H., Engel, C., Eriksson, M., Fachal, L., Faivre, L., Fasching, P. A., Faust, U., Figueroa, J., Dieter, F. J., Fletcher, O., Flyger, H., Foulkes, W. D., Friedman, E., Fritschi, L., Frost, D., Gabrielson, M., Gaddam, P., Gammon, M. D., Ganz, P. A., Gapstur, S. M., Garber, J., Garcia-Barberan, V., Garciá-Saénz, J. A., Gaudet, M. M., Gauthier-Villars, M., Gehrig, A., Georgoulias, V., Gerdes, A. M., Giles, G. G., Glendon, G., Godwin, A. K., Goldberg, M. S., Goldgar, D. E., González-Neira, A., Goodfellow, P., Greene, M. H., Grenaker, G. A. I., Grip, M., Gronwald, J., Grundy, A., Gschwantler-Kaulich, D., Guénel, P., Guo, Q., Haeberle, L., Hahnen, E., Haiman, C. A., Håkansson, N., Hallberg, E., Hamann, U., Hamel, N., Hankinson, S., Hansen, T. V., Harrington, P., Hart, S. N., Hartikainen, J. M., Healey, C. S., Hein, A., Helbig, S., Henderson, A., Heyworth, J., Hicks, B., Hillemanns, P., Hodgson, S., Hogervorst, F. B., Hollestelle, A., Hooning, M. J., Hoover, B., Hopper, J. L., Hu, C., Huang, G., Hulick, P. J., Humphreys, K., Hunter, D. J., Imyanitov, E. N., Isaacs, C., Iwasaki, M., Izatt, L., Jakubowska, A., James, P., Janavicius, R., Janni, W., Jensen, U. B., John, E. M., Johnson, N., Jones, K., Jones, M., Jukkola-Vuorinen, A., Kaaks, R., Kabisch, M., Kaczmarek, K., Kang, D., Kast, K., Keeman, R., Kerin, M. J., Kets, C. M., Keupers, M., Khan, S., Khusnutdinova, E., Kiiski, J. I., Kim, S. W., Knight, J. A., Konstantopoulou, I., Kosma, V. M., Kristensen, V. N., Kruse, T. A., Kwong, A., Lænkholm, A. V., Laitman, Y., Lalloo, F., Lambrechts, D., Landsman, K., Lasset, C., Lazaro, C., Marchand, L. L., Lecarpentier, J., Lee, A., Lee, E., Won, J. L., Lee, M. H., Lejbkowicz, F., Lesueur, F., Li, J., Lilyquist, J., Lincoln, A., Lindblom, A., Lissowska, J., Lo, W. Y., Loibl, S., Long, J., Loud, J. T., Lubinski, J., Luccarini, C., Lush, M., MacInnis, R. J., Maishman, T., Makalic, E., Kostovska, I. M., Malone, K. E., Siranoush, M., Manson, J. E., Margolin, S., Martens, J. W., Martinez, M. E., Matsuo, K., Mavroudis, D., Mazoyer, S., McLean, C., Meijers-Heijboer, H., Menéndez, P., Meyer, J., Miao, H., Miller, A., Miller, N., Mitchell, G., Montagna, M., Muir, K., Mulligan, A. M., Mulot, C., Nadesan, S., Nathanson, K. L., Neuhausen, S. L., Nevanlinna, H., Nevelsteen, I., Niederacher, D., Nielsen, S. F., Nordestgaard, B. G., Norman, A., Nussbaum, R. L., Olah, E., Olopade, O. I., Olson, J. E., Olswold, C., Ong, K. R., Oosterwijk, J. C., Orr, N., Osorio, A., Pankratz, V. S., Papi, L., Park-Simon, T. W., Paulsson-Karlsson, Y., Lloyd, R., Pedersen, I. S., Peissel, B., Peixoto, A., Perez, J. I., Peterlongo, P., Peto, J., Pfeiler, G., Phelan, C. M., Pinchev, M., Plaseska-Karanfilska, D., Poppe, B., Porteous, M. E., Prentice, R., Presneau, N., Prokofieva, D., Pugh, E., Pujana, M. A., Pylkäs, K., Rack, B., Radice, P., Rahman, N., Rantala, J., Rappaport-Fuerhauser, C., Rennert, G., Rennert, H. S., Rhenius, V., Rhiem, K., Richardson, A., Rodriguez, G. C., Romero, A., Romm, J., Rookus, M. A., Rudolph, A., Ruediger, T., Saloustros, E., Sanders, J., Sandler, D. P., Sangrajrang, S., Sawyer, E. J., Schmidt, D. F., Schoemaker, M. J., Schumacher, F., Schürmann, P., Schwentner, L., Scott, C., Scott, R. J., Seal, S., Senter, L., Seynaeve, C., Shah, M., Sharma, P., Shen, C. Y., Sheng, X., Shimelis, H., Shrubsole, M. J., Shu, X. O., Side, L. E., Singer, C. F., Sohn, C., Southey, M. C., Spinelli, J. J., Spurdle, A. B., Stegmaier, C., Stoppa-Lyonnet, D., Sukiennicki, G., Surowy, H., Sutter, C., Swerdlow, A., Szabo, C. I., Tamimi, R. M., Tan, Y. Y., Taylor, J. A., Tejada, M. I., Tengström, M., Teo, S. H., Terry, M. B., Tessier, D. C., Teul, A. E., Thöne, K., Thull, D. L., Tibiletti, M. G., Tihomirova, L., Tischkowitz, M., Toland, A. E., Tollenaar, R. A. M., Tomlinson, I., Tong, L., Torres, D., Tranchant, M., Truong, T., Tucker, K., Tung, N., Tyrer, J., Ulmer, H. U., Vachon, C., Christi, V. A. J., Den Berg, D. V., Ouweland, A. M. V., Rensburg, E. J., Varesco, L., Varon-Mateeva, R., Vega, A., Viel, A., Vijai, J., Vincent, D., Vollenweider, J., Walker, L., Wang, Z., Wang-Gohrke, S., Wappenschmidt, B., Weinberg, C. R., Weitzel, J. N., Wendt, C., Wesseling, J., Whittemore, A. S., Wijnen, J. T., Willett, W., Winqvist, R., Wolk, A., Wu, A. H., Xia, L., Yang, X. R., Yannoukakos, D., Zaffaroni, D., Zheng, W., Zhu, B., Ziogas, A., Ziv, E., Zorn, K. K., Gago-Dominguez, M., Mannermaa, A., Olsson, H., Teixeira, M. R., Stone, J., Offit, K., Ottini, L., Park, S. K., Thomassen, M., Hall, P., Meindl, A., Schmutzler, R. K., Droit, A., Bader, G. D., Pharoah, P. D., Couch, F. J., Easton, D. F., Kraft, P., Chenevix-Trench, G., Garciá-Closas, M., Schmidt, M. K., Antoniou, A. C. & Simard, J., Dec 1 2017, In : Nature Genetics. 49, 12, p. 1767-1778 12 p.

Research output: Contribution to journalArticle

Estrogen Receptors
Breast Neoplasms
Genome-Wide Association Study
Mutation
Disease Susceptibility
66 Citations (Scopus)

Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer

Milne, R. L., Kuchenbaecker, K. B., Michailidou, K., Beesley, J., Kar, S., Lindström, S., Hui, S., Lemaçon, A., Soucy, P., Dennis, J., Jiang, X., Rostamianfar, A., Finucane, H., Bolla, M. K., McGuffog, L., Wang, Q., Aalfs, C. M., Abctctb, I., Adams, M., Adlard, J. & 30 others, Agata, S., Ahmed, S., Ahsan, H., Aittom, K. A., Fares, A. E., Allen, J., Ambrosone, C. B., Amos, C. I., Andrulis, I. L., Anton-Culver, H., Antonenkova, N. N., Arndt, V., Arnold, N., Aronson, K. J., Auber, B., Auer, P. L., Ausems, M. G. M., Azzollini, J., François, B., Balma, J. N., Barile, M., Barjhoux, L., Bonanni, B., Montagna, M., Peissel, B., Radice, P., Tejada, M-I., Varesco, L., Viel, A. & Zaffaroni, D., 2017, In : Nature Genetics. 49, 12, p. 1767-1778 12 p.

Research output: Contribution to journalArticle

66 Citations (Scopus)

Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer

Milne, R. L., Kuchenbaecker, K. B., Michailidou, K., Beesley, J., Kar, S., Lindström, S., Hui, S., Lemaçon, A., Soucy, P., Dennis, J., Jiang, X., Rostamianfar, A., Finucane, H., Bolla, M. K., McGuffog, L., Wang, Q., Aalfs, C. M., Abctctb, I., Adams, M., Adlard, J. & 461 others, Agata, S., Ahmed, S., Ahsan, H., Aittom, K. A., Fares, A. E., Allen, J., Ambrosone, C. B., Amos, C. I., Andrulis, I. L., Anton-Culver, H., Antonenkova, N. N., Arndt, V., Arnold, N., Aronson, K. J., Auber, B., Auer, P. L., Ausems, M. G. M., Azzollini, J., François, B., Balma, J. N., Barile, M., Barjhoux, L., Barkardottir, R. B., Barrdahl, M., Barnes, D., Barrowdale, D., Baynes, C., Beckmann, M. W., Benitez, J., Bermisheva, M., Bernstein, L., Bignon, Y. J., Blazer, K. R., Blok, M. J., Blomqvist, C., Blot, W., Bobolis, K., Boeckx, B., Bogdanova, N. V., Bojesen, A., Bojesen, S. E., Bonanni, B., Anne-Lise, B. D., Bozsik, A., Bradbury, A. R., Brand, J. S., Brauch, H., Brenner, H., Brigitte, B-DP., Brewer, C., Brinton, L., Broberg, P., Angela, B. W., Brunet, J., Brüning, T., Burwinkel, B., Buys, S. S., Byun, J., Cai, Q., Cald, T. E., Caligo, M. A., Campbell, I., Canzian, F., Caron, O., Carracedo, A., Carter, B. D., Esteban, C., Castera, L., Virginie, C. M., Chan, S. B., Jenny, C. C., Chanock, S. J., Chen, X., Cheng, T-YD., Chiquette, J., Christiansen, H., Claes, K. B., Clarke, C. L., Conner, T., Conroy, D. M., Cook, J., Cordina-Duverger, E., Cornelissen, S., Coupier, I., Cox, A., Cox, D. G., Cross, S. S., Cuk, K., Cunningham, J. M., Czene, K., Daly, M. B., Damiola, F., Darabi, H., Davidson, R., Leeneer, K. D. L., Devilee, P., Dicks, E., Diez, O., Ding, Y. C., Ditsch, N., Doheny, K. F., Domchek, S. M., Dorfling, C. M., Dörk, T., Dos-Santos-Silva, I., Dubois, S., Dugué, P-A., Dumont, M., Dunning, A. M., Durcan, L., Dwek, M., Dworniczak, B., Eccles, D., Eeles, R., Ehrencrona, H., Eilber, U., Ejlertsen, B., Ekici, A. B., Eliassen, A. H., Engel, C., Eriksson, M., Fachal, L., Faivre, L., Fasching, P. A., Faust, U., Figueroa, J., Flesch-Janys, D., Fletcher, O., Flyger, H., Foulkes, W. D., Friedman, E., Fritschi, L., Frost, D., Gabrielson, M., Gaddam, P., Gammon, M. D., Ganz, P. A., Gapstur, S. M., Garber, J., Garcia-Barberan, V., Garciá-Saénz, J. A., Gaudet, M. M., Gauthier-Villars, M., Gehrig, A., Georgoulias, V., Gerdes, A-M., Giles, G. G., Glendon, G., Godwin, A. K., Goldberg, M. S., Goldgar, D. E., González-Neira, A., Goodfellow, P., Greene, M. H., Grenaker, G. A. I., Grip, M., Gronwald, J., Grundy, A., Gschwantler, D-K., Guénel, P., Guo, Q., Haeberle, L., Hahnen, E., Haiman, C. A., Håkansson, N., Hallberg, E., Hamann, U., Hamel, N., Hankinson, S., Hansen, T. V., Harrington, P., Hart, S. N., Hartikainen, J. M., Healey, C. S., Hein, A., Helbig, S., Henderson, A., Heyworth, J., Hicks, B., Hillemanns, P., Hodgson, S., Hogervorst, F. B., Hollestelle, A., Hooning, M. J., Hoover, B., Hopper, J. L., Hu, C., Huang, G., Hulick, P. J., Humphreys, K., Hunter, D. J., Imyanitov, E. N., Isaacs, C., Iwasaki, M., Izatt, L., Jakubowska, A., James, P., Janavicius, R., Janni, W., Jensen, U. B., John, E. M., Johnson, N., Jones, K., Jones, M., Jukkola-Vuorinen, A., Kaaks, R., Kabisch, M., Kaczmarek, K., Kang, D., Kast, K., Keeman, R., Kerin, M. J., Kets, C. M., Keupers, M. H., Khan, S., Khusnutdinova, E., Kiiski, J. I., Kim, S-W., Knight, J. A., Konstantopoulou, I., Kosma, V-M., Kristensen, V. N., Kruse, T. A., Kwong, A., Lænkholm, A-V., Laitman, Y., Lalloo, F., Lambrechts, D., Landsman, K., Lasset, C., Lazaro, C., Marchand, L. L., Al-Ejeh, F., Margreet, G. M. A., Bacot, F., Børresen-Dale, A-L., Bressac-De, B. P., Brooks-Wilson, A., Castelao, J. E., Caux-Moncoutier, V., Chang-Claude, J., McLaes, K. B., Dieter, F. J., Gschwantler-Kaulich, D., Lecarpentier, J., Lee, A., Lee, E., Won, J. L., Lee, M. H., Lejbkowicz, F., Lesueur, F., Li, J., Lilyquist, J., Lincoln, A., Lindblom, A., Lissowska, J., Lo, W. Y., Loibl, S., Long, J., Loud, J. T., Lubinski, J., Luccarini, C., Lush, M., MacInnis, R. J., Maishman, T., Makalic, E., Kostovska, I. M., Malone, K. E., Siranoush, M., Manson, J. E., Margolin, S., Martens, J. W., Martinez, M. E., Matsuo, K., Mavroudis, D., Mazoyer, S., McLean, C., Meijers-Heijboer, H., Menéndez, P., Meyer, J., Miao, H., Miller, N., Mitchell, G., Montagna, M., Muir, K., Mulligan, A. M., Mulot, C., Nadesan, S., Nathanson, K. L., Neuhausen, S. L., Nevanlinna, H., Nevelsteen, I., Niederacher, D., Nielsen, S. F., Nordestgaard, B. G., Norman, A., Nussbaum, R. L., Olah, E., Olopade, O. I., Olson, J. E., Olswold, C., Ong, K-R., Oosterwijk, J. C., Orr, N., Osorio, A., Pankratz, V. S., Papi, L., Park-Simon, T-W., Paulsson-Karlsson, Y., Lloyd, R., Pedersen, I. S., Peissel, B., Peixoto, A., Perez, J. I., Peterlongo, P., Peto, J., Pfeiler, G., Phelan, C. M., Pinchev, M., Plaseska-Karanfilska, D., Poppe, B., Porteous, M. E., Prentice, R., Presneau, N., Prokofieva, D., Pugh, E., Pujana, M. A., Pylkäs, K., Rack, B., Radice, P., Rahman, N., Rantala, J., Rappaport-Fuerhauser, C., Rennert, G., Rennert, H. S., Rhenius, V., Rhiem, K., Richardson, A., Rodriguez, G. C., Romero, A., Romm, J., Rookus, M. A., Rudolph, A., Ruediger, T., Saloustros, E., Sanders, J., Sandler, D. P., Sangrajrang, S., Sawyer, E. J., Schmidt, D. F., Schoemaker, M. J., Schumacher, F., Schürmann, P., Schwentner, L., Scott, C., Scott, R. J., Seal, S., Senter, L., Seynaeve, C., Shah, M., Sharma, P., Shen, C-Y., Sheng, X., Shimelis, H., Shrubsole, M. J., Shu, X-O., Side, L. E., Singer, C. F., Sohn, C., Southey, M. C., Spinelli, J. J., Spurdle, A. B., Stegmaier, C., Stoppa-Lyonnet, D., Sukiennicki, G., Surowy, H., Sutter, C., Swerdlow, A., Szabo, C. I., Tamimi, R. M., Tan, Y. Y., Taylor, J. A., Tejada, M-I., Tengström, M., Teo, S. H., Terry, M. B., Tessier, D. C., Teul, A. E., Thöne, K., Thull, D. L., Tibiletti, M. G., Tihomirova, L., Tischkowitz, M., Toland, A. E., Tollenaar, R. A. M., Tomlinson, I., Tong, L., Torres, D., Tranchant, M., Truong, T., Tucker, K., Tung, N., Tyrer, J., Ulmer, H-U., Vachon, C., Christi, V. A. J., Den Berg, D. V., Ouweland, A. M. V., Rensburg, E. J., Varesco, L., Varon-Mateeva, R., Vega, A., Viel, A., Vijai, J., Vincent, D., Vollenweider, J., Walker, L., Wang, Z., Wang-Gohrke, S., Wappenschmidt, B., Weinberg, C. R., Weitzel, J. N., Wendt, C., Wesseling, J., Whittemore, A. S., Wijnen, J. T., Willett, W., Winqvist, R., Wolk, A., Wu, A. H., Xia, L., Yang, X. R., Yannoukakos, D., Zaffaroni, D., Zheng, W., Zhu, B., Ziogas, A., Ziv, E., Zorn, K. K., Gago-Dominguez, M., Mannermaa, A., Olsson, H., Teixeira, M. R., Stone, J., Offit, K., Ottini, L., Park, S. K., Thomassen, M., Hall, P., Meindl, A., Schmutzler, R. K., Droit, A., Bader, G. D., Pharoah, P. D., Couch, F. J., Easton, D. F., Kraft, P., Chenevix-Trench, G., Garciá-Closas, M., Antoniou, A. C. & Simard, J., 2017, In : Nature Genetics. 49, 12, p. 1767-1778 12 p.

Research output: Contribution to journalArticle

Estrogen Receptors
Breast Neoplasms
Genome-Wide Association Study
Mutation
Disease Susceptibility
1 Citation (Scopus)

Including Lynch syndrome in personalized prognostication and follow-up of stage II and III colon cancer

Sciallero, S., Battistuzzi, L. & Varesco, L., 2017, In : Annals of Oncology. 28, 10, p. 2620-2621 2 p.

Research output: Contribution to journalArticle

5 Citations (Scopus)

Type and frequency of MUTYH variants in Italian patients with suspected MAP: A retrospective multicenter study

Ricci, M. T., Miccoli, S., Turchetti, D., Bondavalli, D., Viel, A., Quaia, M., Giacomini, E., Gismondi, V., Sanchez-Mete, L., Stigliano, V., Martayan, A., Mazzei, F., Bignami, M., Bonelli, L. & Varesco, L., 2017, In : Journal of Human Genetics. 62, 2, p. 309-315 7 p.

Research output: Contribution to journalArticle

Multicenter Studies
Retrospective Studies
Polyps
Genetic Testing
Neoplasms
2016
10 Citations (Scopus)

An international survey of surveillance schemes for unaffected BRCA1 and BRCA2 mutation carriers

Madorsky-Feldman, D., Sklair-Levy, M., Perri, T., Laitman, Y., Paluch-Shimon, S., Schmutzler, R., Rhiem, K., Lester, J., Karlan, B. Y., Singer, C. F., Van Maerken, T., Claes, K., Brunet, J., Izquierdo, A., Teulé, A., Lee, J. W., Kim, S. W., Arun, B., Jakubowska, A., Lubinski, J. & 18 others, Tucker, K., Poplawski, N. K., Varesco, L., Bonelli, L. A., Buys, S. S., Mitchell, G., Tischkowitz, M., Gerdes, A. M., Seynaeve, C., Robson, M., Kwong, A., Tung, N., Tessa, N., Domchek, S. M., Godwin, A. K., Rantala, J., Arver, B. & Friedman, E., Jun 1 2016, In : Breast Cancer Research and Treatment. 157, 2, p. 319-327 9 p.

Research output: Contribution to journalArticle

Mutation
Mastectomy
Breast
Ovarian Neoplasms
Ovariectomy

Fine-Scale Mapping at 9p22.2 Identifies Candidate Causal Variants That Modify Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

Vigorito, E., Kuchenbaecker, K. B., Beesley, J., Adlard, J., Agnarsson, B. A., Andrulis, I. L., Arun, B. K., Barjhoux, L., Belotti, M., Benitez, J., Berger, A., Bojesen, A., Bonanni, B., Brewer, C., Caldes, T., Caligo, M. A., Campbell, I., Chan, S. B., Claes, K. B. M., Cohn, D. E. & 126 others, Cook, J., Daly, M. B., Damiola, F., Davidson, R., De Pauw, A., Delnatte, C., Diez, O., Domchek, S. M., Dumont, M., Durda, K., Dworniczak, B., Easton, D. F., Eccles, D., Edwinsdotter Ardnor, C., Eeles, R., Ejlertsen, B., Ellis, S., Evans, D. G., Feliubadalo, L., Fostira, F., Foulkes, W. D., Friedman, E., Frost, D., Gaddam, P., Ganz, P. A., Garber, J., Garcia-Barberan, V., Gauthier-Villars, M., Gehrig, A., Gerdes, A. M., Giraud, S., Godwin, A. K., Goldgar, D. E., Hake, C. R., Hansen, T. V. O., Healey, S., Hodgson, S., Hogervorst, F. B. L., Houdayer, C., Hulick, P. J., Imyanitov, E. N., Isaacs, C., Izatt, L., Izquierdo, A., Jacobs, L., Jakubowska, A., Janavicius, R., Jaworska-Bieniek, K., Jensen, U. B., John, E. M., Vijai, J., Karlan, B. Y., Kast, K., Investigators, KC., Khan, S., Kwong, A., Laitman, Y., Lester, J., Lesueur, F., Liljegren, A., Lubinski, J., Mai, P. L., Manoukian, S., Mazoyer, S., Meindl, A., Mensenkamp, A. R., Montagna, M., Nathanson, K. L., Neuhausen, S. L., Nevanlinna, H., Niederacher, D., Olah, E., Olopade, O. I., Ong, K. R., Osorio, A., Park, S. K., Paulsson-Karlsson, Y., Pedersen, I. S., Peissel, B., Peterlongo, P., Pfeiler, G., Phelan, C. M., Piedmonte, M., Poppe, B., Pujana, M. A., Radice, P., Rennert, G., Rodriguez, G. C., Rookus, M. A., Ross, E. A., Schmutzler, R. K., Simard, J., Singer, C. F., Slavin, T. P., Soucy, P., Southey, M., Steinemann, D., Stoppa-Lyonnet, D., Sukiennicki, G., Sutter, C., Szabo, C. I., Tea, M. K., Teixeira, M. R., Teo, S. H., Terry, M. B., Thomassen, M., Tibiletti, M. G., Tihomirova, L., Tognazzo, S., van Rensburg, E. J., Varesco, L., Varon-Mateeva, R., Vratimos, A., Weitzel, J. N., McGuffog, L., Kirk, J., Toland, A. E., Hamann, U., Lindor, N., Ramus, S. J., Greene, M. H., Couch, F. J., Offit, K., Pharoah, P. D. P., Chenevix-Trench, G. & Antoniou, A. C., 2016, In : PLoS One. 11, 7, p. e0158801

Research output: Contribution to journalArticle

ovarian neoplasms
Ovarian Neoplasms
mutation
Mutation
Single Nucleotide Polymorphism

Fine-Scale Mapping at 9p22.2 Identifies Candidate Causal Variants That Modify Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

Vigorito, E., Kuchenbaecker, K. B., Beesley, J., Adlard, J., Agnarsson, B. A., Andrulis, I. L., Arun, B. K., Barjhoux, L., Belotti, M., Benitez, J., Berger, A., Bojesen, A., Bonanni, B., Brewer, C., Caldes, T., Caligo, M. A., Campbell, I., Chan, S. B., Claes, K. B. M., Cohn, D. E. & 126 others, Cook, J., Daly, M. B., Damiola, F., Davidson, R., De Pauw, A., Delnatte, C., Diez, O., Domchek, S. M., Dumont, M., Durda, K., Dworniczak, B., Easton, D. F., Eccles, D., Edwinsdotter Ardnor, C., Eeles, R., Ejlertsen, B., Ellis, S., Evans, D. G., Feliubadalo, L., Fostira, F., Foulkes, W. D., Friedman, E., Frost, D., Gaddam, P., Ganz, P. A., Garber, J., Garcia-Barberan, V., Gauthier-Villars, M., Gehrig, A., Gerdes, A. M., Giraud, S., Godwin, A. K., Goldgar, D. E., Hake, C. R., Hansen, T. V. O., Healey, S., Hodgson, S., Hogervorst, F. B. L., Houdayer, C., Hulick, P. J., Imyanitov, E. N., Isaacs, C., Izatt, L., Izquierdo, A., Jacobs, L., Jakubowska, A., Janavicius, R., Jaworska-Bieniek, K., Jensen, U. B., John, E. M., Vijai, J., Karlan, B. Y., Kast, K., Investigators, KC., Khan, S., Kwong, A., Laitman, Y., Lester, J., Lesueur, F., Liljegren, A., Lubinski, J., Mai, P. L., Manoukian, S., Mazoyer, S., Meindl, A., Mensenkamp, A. R., Montagna, M., Nathanson, K. L., Neuhausen, S. L., Nevanlinna, H., Niederacher, D., Olah, E., Olopade, O. I., Ong, K. R., Osorio, A., Park, S. K., Paulsson-Karlsson, Y., Pedersen, I. S., Peissel, B., Peterlongo, P., Pfeiler, G., Phelan, C. M., Piedmonte, M., Poppe, B., Pujana, M. A., Radice, P., Rennert, G., Rodriguez, G. C., Rookus, M. A., Ross, E. A., Schmutzler, R. K., Simard, J., Singer, C. F., Slavin, T. P., Soucy, P., Southey, M., Steinemann, D., Stoppa-Lyonnet, D., Sukiennicki, G., Sutter, C., Szabo, C. I., Tea, M. K., Teixeira, M. R., Teo, S. H., Terry, M. B., Thomassen, M., Tibiletti, M. G., Tihomirova, L., Tognazzo, S., van Rensburg, E. J., Varesco, L., Varon-Mateeva, R., Vratimos, A., Weitzel, J. N., McGuffog, L., Kirk, J., Toland, A. E., Hamann, U., Lindor, N., Ramus, S. J., Greene, M. H., Couch, F. J., Offit, K., Pharoah, P. D. P., Chenevix-Trench, G. & Antoniou, A. C., 2016, In : PLoS One. 11, 7, p. e0158801

Research output: Contribution to journalArticle

ovarian neoplasms
Ovarian Neoplasms
mutation
Mutation
Single Nucleotide Polymorphism

Fine-Scale Mapping at 9p22.2 Identifies Candidate Causal Variants That Modify Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

Vigorito, E., Kuchenbaecker, K. B., Beesley, J., Adlard, J., Agnarsson, B. A., Andrulis, I. L., Arun, B. K., Barjhoux, L., Belotti, M., Benitez, J., Berger, A., Bojesen, A., Bonanni, B., Brewer, C., Caldes, T., Caligo, M. A., Campbell, I., Chan, S. B., Claes, K. B. M., Cohn, D. E. & 126 others, Cook, J., Daly, M. B., Damiola, F., Davidson, R., De Pauw, A., Delnatte, C., Diez, O., Domchek, S. M., Dumont, M., Durda, K., Dworniczak, B., Easton, D. F., Eccles, D., Edwinsdotter Ardnor, C., Eeles, R., Ejlertsen, B., Ellis, S., Evans, D. G., Feliubadalo, L., Fostira, F., Foulkes, W. D., Friedman, E., Frost, D., Gaddam, P., Ganz, P. A., Garber, J., Garcia-Barberan, V., Gauthier-Villars, M., Gehrig, A., Gerdes, A. M., Giraud, S., Godwin, A. K., Goldgar, D. E., Hake, C. R., Hansen, T. V. O., Healey, S., Hodgson, S., Hogervorst, F. B. L., Houdayer, C., Hulick, P. J., Imyanitov, E. N., Isaacs, C., Izatt, L., Izquierdo, A., Jacobs, L., Jakubowska, A., Janavicius, R., Jaworska-Bieniek, K., Jensen, U. B., John, E. M., Vijai, J., Karlan, B. Y., Kast, K., Investigators, KC., Khan, S., Kwong, A., Laitman, Y., Lester, J., Lesueur, F., Liljegren, A., Lubinski, J., Mai, P. L., Manoukian, S., Mazoyer, S., Meindl, A., Mensenkamp, A. R., Montagna, M., Nathanson, K. L., Neuhausen, S. L., Nevanlinna, H., Niederacher, D., Olah, E., Olopade, O. I., Ong, K. R., Osorio, A., Park, S. K., Paulsson-Karlsson, Y., Pedersen, I. S., Peissel, B., Peterlongo, P., Pfeiler, G., Phelan, C. M., Piedmonte, M., Poppe, B., Pujana, M. A., Radice, P., Rennert, G., Rodriguez, G. C., Rookus, M. A., Ross, E. A., Schmutzler, R. K., Simard, J., Singer, C. F., Slavin, T. P., Soucy, P., Southey, M., Steinemann, D., Stoppa-Lyonnet, D., Sukiennicki, G., Sutter, C., Szabo, C. I., Tea, M. K., Teixeira, M. R., Teo, S. H., Terry, M. B., Thomassen, M., Tibiletti, M. G., Tihomirova, L., Tognazzo, S., van Rensburg, E. J., Varesco, L., Varon-Mateeva, R., Vratimos, A., Weitzel, J. N., McGuffog, L., Kirk, J., Toland, A. E., Hamann, U., Lindor, N., Ramus, S. J., Greene, M. H., Couch, F. J., Offit, K., Pharoah, P. D. P., Chenevix-Trench, G. & Antoniou, A. C., 2016, In : PLoS One. 11, 7, p. e0158801

Research output: Contribution to journalArticle

ovarian neoplasms
Ovarian Neoplasms
mutation
Mutation
Single Nucleotide Polymorphism

Male breast cancer in BRCA1 and BRCA2 mutation carriers: Pathology data from the Consortium of Investigators of Modifiers of BRCA1/2

Silvestri, V., Barrowdale, D., Mulligan, A. M., Neuhausen, S. L., Fox, S. B., Karlan, B. Y., Mitchell, G., James, P. A., Thull, D. L., Zorn, K. K., Carter, N. J., Nathanson, K. L., Domchek, S. M., Rebbeck, T., Ramus, S. J., Nussbaum, R. L., Olopade, O. I., Rantala, J., Yoon, S. Y., Caligo, M. A. & 126 others, Spugnesi, L., Bojesen, A., Pedersen, I. S., Thomassen, M., Jensen, U. B., Toland, A. E., Senter, L., Andrulis, I. L., Glendon, G., Hulick, P. J., Imyanitov, E., Greene, M. H., Mai, P. L., Singer, C. F., Rappaport-Fuerhauser, C., Kramer, G., Vijai, J., Offit, K., Robson, M. E., Lincoln, A., Jacobs, L., Machackova, E., Foretova, L., Navratilova, M., Vasickova, P., Couch, F. J., Hallberg, E., Ruddy, K. J., Sharma, P., Kim, S. W., Teixeira, M. R., Pinto, P., Montagna, M., Matricardi, L., Arason, A., Johannsson, O. T., Barkardottir, R. B., Jakubowska, A., Lubinski, J., Izquierdo, A., Pujana, M. A., Balmaña, J., Diez, O., Ivady, G., Papp, J., Olah, E., Kwong, A., Nevanlinna, H., Aittomäki, K., Pérez-Segura, P., Caldes, T., Van Maerken, T., Poppe, B., Claes, K., Isaacs, C., Elan, C., Lasset, C., Stoppa-Lyonnet, D., Barjhoux, L., Belotti, M., Meindl, A., Gehrig, A., Sutter, C., Engel, C., Niederacher, D., Steinemann, D., Hahnen, E., Kast, K., Arnold, N., Varon-Mateeva, R., Wand, D., Godwin, A., Evans, D. G., Frost, D., Perkins, J., Adlard, J., Izatt, L., Platte, R., Eeles, R., Ellis, S., Hamann, U., Garber, J. E., Fostira, F., Fountzilas, G., Pasini, B., Giannini, G., Rizzolo, P., Russo, A., Cortesi, L., Papi, L., Varesco, L., Palli, D., Zanna, I., Savarese, A., Radice, P., Manoukian, S., Peissel, B. G., Barile, M., Bonanni, B., Viel, A., Pensotti, V., Tommasi, S., Peterlongo, P., Weitzel, J., Osorio, A., Benitez, J., McGuffog, L., Healey, S., Gerdes, A. M., Ejlertsen, B., Hansen, T. V. O., Steele, L., Ding, Y. C., Tung, N., Janavicius, R., Goldgar, D., Buys, S. S., Daly, M. B., Bane, A. L., Terry, M. B., John, E. M., Southey, M., Easton, D. F., Chenevix-Trench, G., Antoniou, A. C. & Ottini, L., Feb 9 2016, In : Breast Cancer Research. 18, 1, 15.

Research output: Contribution to journalArticle

Male Breast Neoplasms
Research Personnel
Pathology
Mutation
Epidemiology

Male breast cancer in BRCA1 and BRCA2 mutation carriers: Pathology data from the Consortium of Investigators of Modifiers of BRCA1/2

Silvestri, V., Barrowdale, D., Mulligan, A. M., Neuhausen, S. L., Fox, S. B., Karlan, B. Y., Mitchell, G., James, P. A., Thull, D. L., Zorn, K. K., Carter, N. J., Nathanson, K. L., Domchek, S. M., Rebbeck, T., Ramus, S. J., Nussbaum, R. L., Olopade, O. I., Rantala, J., Yoon, S. Y., Caligo, M. A. & 126 others, Spugnesi, L., Bojesen, A., Pedersen, I. S., Thomassen, M., Jensen, U. B., Toland, A. E., Senter, L., Andrulis, I. L., Glendon, G., Hulick, P. J., Imyanitov, E., Greene, M. H., Mai, P. L., Singer, C. F., Rappaport-Fuerhauser, C., Kramer, G., Vijai, J., Offit, K., Robson, M. E., Lincoln, A., Jacobs, L., Machackova, E., Foretova, L., Navratilova, M., Vasickova, P., Couch, F. J., Hallberg, E., Ruddy, K. J., Sharma, P., Kim, S. W., Teixeira, M. R., Pinto, P., Montagna, M., Matricardi, L., Arason, A., Johannsson, O. T., Barkardottir, R. B., Jakubowska, A., Lubinski, J., Izquierdo, A., Pujana, M. A., Balmaña, J., Diez, O., Ivady, G., Papp, J., Olah, E., Kwong, A., Nevanlinna, H., Aittomäki, K., Pérez-Segura, P., Caldes, T., Van Maerken, T., Poppe, B., Claes, K., Isaacs, C., Elan, C., Lasset, C., Stoppa-Lyonnet, D., Barjhoux, L., Belotti, M., Meindl, A., Gehrig, A., Sutter, C., Engel, C., Niederacher, D., Steinemann, D., Hahnen, E., Kast, K., Arnold, N., Varon-Mateeva, R., Wand, D., Godwin, A., Evans, D. G., Frost, D., Perkins, J., Adlard, J., Izatt, L., Platte, R., Eeles, R., Ellis, S., Hamann, U., Garber, J. E., Fostira, F., Fountzilas, G., Pasini, B., Giannini, G., Rizzolo, P., Russo, A., Cortesi, L., Papi, L., Varesco, L., Palli, D., Zanna, I., Savarese, A., Radice, P., Manoukian, S., Peissel, B. G., Barile, M., Bonanni, B., Viel, A., Pensotti, V., Tommasi, S., Peterlongo, P., Weitzel, J., Osorio, A., Benitez, J., McGuffog, L., Healey, S., Gerdes, A. M., Ejlertsen, B., Hansen, T. V. O., Steele, L., Ding, Y. C., Tung, N., Janavicius, R., Goldgar, D., Buys, S. S., Daly, M. B., Bane, A. L., Terry, M. B., John, E. M., Southey, M., Easton, D. F., Chenevix-Trench, G., Antoniou, A. C. & Ottini, L., Feb 9 2016, In : Breast Cancer Research. 18, 1, 15.

Research output: Contribution to journalArticle

Male Breast Neoplasms
Research Personnel
Pathology
Mutation
Epidemiology

Male breast cancer in BRCA1 and BRCA2 mutation carriers: Pathology data from the Consortium of Investigators of Modifiers of BRCA1/2

Silvestri, V., Barrowdale, D., Mulligan, A. M., Neuhausen, S. L., Fox, S. B., Karlan, B. Y., Mitchell, G., James, P. A., Thull, D. L., Zorn, K. K., Carter, N. J., Nathanson, K. L., Domchek, S. M., Rebbeck, T., Ramus, S. J., Nussbaum, R. L., Olopade, O. I., Rantala, J., Yoon, S. Y., Caligo, M. A. & 126 others, Spugnesi, L., Bojesen, A., Pedersen, I. S., Thomassen, M., Jensen, U. B., Toland, A. E., Senter, L., Andrulis, I. L., Glendon, G., Hulick, P. J., Imyanitov, E., Greene, M. H., Mai, P. L., Singer, C. F., Rappaport-Fuerhauser, C., Kramer, G., Vijai, J., Offit, K., Robson, M. E., Lincoln, A., Jacobs, L., Machackova, E., Foretova, L., Navratilova, M., Vasickova, P., Couch, F. J., Hallberg, E., Ruddy, K. J., Sharma, P., Kim, S. W., Teixeira, M. R., Pinto, P., Montagna, M., Matricardi, L., Arason, A., Johannsson, O. T., Barkardottir, R. B., Jakubowska, A., Lubinski, J., Izquierdo, A., Pujana, M. A., Balmaña, J., Diez, O., Ivady, G., Papp, J., Olah, E., Kwong, A., Nevanlinna, H., Aittomäki, K., Pérez-Segura, P., Caldes, T., Van Maerken, T., Poppe, B., Claes, K., Isaacs, C., Elan, C., Lasset, C., Stoppa-Lyonnet, D., Barjhoux, L., Belotti, M., Meindl, A., Gehrig, A., Sutter, C., Engel, C., Niederacher, D., Steinemann, D., Hahnen, E., Kast, K., Arnold, N., Varon-Mateeva, R., Wand, D., Godwin, A., Evans, D. G., Frost, D., Perkins, J., Adlard, J., Izatt, L., Platte, R., Eeles, R., Ellis, S., Hamann, U., Garber, J. E., Fostira, F., Fountzilas, G., Pasini, B., Giannini, G., Rizzolo, P., Russo, A., Cortesi, L., Papi, L., Varesco, L., Palli, D., Zanna, I., Savarese, A., Radice, P., Manoukian, S., Peissel, B. G., Barile, M., Bonanni, B., Viel, A., Pensotti, V., Tommasi, S., Peterlongo, P., Weitzel, J., Osorio, A., Benitez, J., McGuffog, L., Healey, S., Gerdes, A. M., Ejlertsen, B., Hansen, T. V. O., Steele, L., Ding, Y. C., Tung, N., Janavicius, R., Goldgar, D., Buys, S. S., Daly, M. B., Bane, A. L., Terry, M. B., John, E. M., Southey, M., Easton, D. F., Chenevix-Trench, G., Antoniou, A. C. & Ottini, L., Feb 9 2016, In : Breast Cancer Research. 18, 1, 15.

Research output: Contribution to journalArticle

Male Breast Neoplasms
Research Personnel
Pathology
Mutation
Epidemiology
33 Citations (Scopus)

Male breast cancer in BRCA1 and BRCA2 mutation carriers: Pathology data from the Consortium of Investigators of Modifiers of BRCA1/2

Silvestri, V., Barrowdale, D., Mulligan, A. M., Neuhausen, S. L., Fox, S., Karlan, B. Y., Mitchell, G., James, P., Thull, D. L., Zorn, K. K., Carter, N. J., Nathanson, K. L., Domchek, S. M., Rebbeck, T. R., Ramus, S. J., Nussbaum, R. L., Olopade, O. I., Rantala, J., Yoon, S. Y., Caligo, M. A. & 126 others, Spugnesi, L., Bojesen, A., Pedersen, I. S., Thomassen, M., Jensen, U. B., Toland, A. E., Senter, L., Andrulis, I. L., Glendon, G., Hulick, P. J., Imyanitov, E. N., Greene, M. H., Mai, P. L., Singer, C. F., Rappaport-Fuerhauser, C., Kramer, G., Vijai, J., Offit, K., Robson, M., Lincoln, A., Jacobs, L., Machackova, E., Foretova, L., Navratilova, M., Vasickova, P., Couch, F. J., Hallberg, E., Ruddy, K. J., Sharma, P., Kim, S. W., Teixeira, M. R., Pinto, P., Montagna, M., Matricardi, L., Arason, A., Johannsson, O. T., Barkardottir, R. B., Jakubowska, A., Lubinski, J., Izquierdo, A., Pujana, M. A., Balmaña, J., Diez, O., Ivady, G., Papp, J., Olah, E., Kwong, A., Nevanlinna, H., Aittomäki, K., Perez Segura, P., Caldes, T., Van Maerken, T., Poppe, B., Claes, K. B. M., Isaacs, C., Elan, C., Lasset, C., Stoppa-Lyonnet, D., Barjhoux, L., Belotti, M., Meindl, A., Gehrig, A., Sutter, C., Engel, C., Niederacher, D., Steinemann, D., Hahnen, E., Kast, K., Arnold, N., Varon-Mateeva, R., Wand, D., Godwin, A. K., Evans, D. G., Frost, D., Perkins, J., Adlard, J., Izatt, L., Platte, R., Eeles, R., Ellis, S., Hamann, U., Garber, J., Fostira, F., Fountzilas, G., Pasini, B., Giannini, G., Rizzolo, P., Russo, A., Cortesi, L., Papi, L., Varesco, L., Palli, D., Zanna, I., Savarese, A., Radice, P., Manoukian, S., Peissel, B., Barile, M., Bonanni, B., Viel, A., Pensotti, V., Tommasi, S., Peterlongo, P., Weitzel, J. N., Osorio, A., Benitez, J., McGuffog, L., Healey, S., Gerdes, A. M., Ejlertsen, B., Hansen, T. V. O., Steele, L., Ding, Y. C., Tung, N., Janavicius, R., Goldgar, D. E., Buys, S. S., Daly, M. B., Bane, A., Terry, M. B., John, E. M., Southey, M., Easton, D. F., Chenevix-Trench, G., Antoniou, A. C. & Ottini, L., Feb 9 2016, In : Breast Cancer Research. 18, 1, 15.

Research output: Contribution to journalArticle

Male Breast Neoplasms
Research Personnel
Pathology
Mutation
Epidemiology