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


Por: Rebbeck, TR, Friebel, TM, Friedman, E, Hamann, U, Huo, DZ, Kwong, A, Olah, E, Olopade, OI, Solano, AR, Teo, SH, Thomassen, M, Weitzel, JN, Chan, TL, Fergus, J, Goldgar, DE, Kruse, TA, Edenir, I, Park, SK, Torres, D, van Rensburg, EJ, McGuffog, L, Parsons, MT, Leslie, G, Aalfs, CM, Abugattas, J, Adlard, J, Agata, S, Aittomaki, K, Andrews, L, Andrulis, IL, Arason, A, Arnold, N, Arun, BK, Asseryanis, E, Auerbach, L, Azzollini, J, Balmana, J, Barile, M, Barkardottir, RB, Barrowdale, D, Benitez, J, Berger, A, Berger, R, Blanco, AM, Blazer, KR, Blok, MJ, Bonadona, V, Bonanni, B, Bradbury, AR, Brewer, C, Buecher, B, Buys, SS, Caldes, T, Caliebe, A, Caligo, MA, Campbell, I, Caputo, SM, Chiquette, J, Chung, WK, Claes, KBM, Collee, JM, Cook, J, Davidson, R, de la Hoya, M, De Leeneer, K, de Pauw, A, Delnatte, C, Diez, O, Ding, YC, Ditsch, N, Domchek, S, Dorfling, CM, Velazquez, C, Dworniczak, B, Eason, J, Easton, DF, Eeles, R, Ehrencrona, H, Ejlertsen, B, Engel, C, Engert, S, Evans, DG, Faivre, L, Feliubadalo, L, Ferrer, SF, Foretova, L, Fowler, J, Frost, D, Galvao, HCR, Ganz, PA, Garber, J, Gauthier-Villars, M, Gehrig, A, Gerdes, AM, Gesta, P, Giannini, G, Giraud, S, Glendon, G, Godwin, AK, Greene, MH, Gronwald, J, Gutierrez-Barrera, A, Hahnen, E, Hauke, J, Henderson, A, Hentschel, J, Hogervorst, FBL, Honisch, E, Imyanitov, EN, Isaacs, C, Izatt, L, Izquierdo, A, Jakubowska, A, James, P, Janavicius, R, Jensen, UB, John, EM, Vijai, J, Kaczmarek, K, Karlan, BY, Kast, K, Kim, SW, Konstantopoulou, I, Korach, J, Laitman, Y, Lasa, A, Lasset, C, Lazaro, C, Lee, A, Lee, MH, Lester, J, Lesueur, F, Liljegren, A, Lindor, NM, Longy, M, Loud, JT, Lu, KH, Lubinski, J, Machackova, E, Manoukian, S, Mari, V, Martinez-Bouzas, C, Matrai, Z, Mebirouk, N, Meijers-Heijboer, HEJ, Meindl, A, Mensenkamp, AR, Mickys, U, Miller, A, Montagna, M, Moysich, KB, Mulligan, AM, Musinsky, J, Neuhausen, SL, Nevanlinna, H, Ngeow, J, Nguyen, HP, Niederacher, D, Nielsen, HR, Nielsen, FC, Nussbaum, RL, Offit, K, Ofverholm, A, Ong, KR, Osorio, A, Papi, L, Papp, J, Pasini, B, Pedersen, IS, Peixoto, A, Peruga, N, Peterlongo, P, Pohl, E, Pradhan, N, Prajzendanc, K, Prieur, F, Pujol, P, Radice, P, Ramus, SJ, Rantala, J, Rashid, MU, Rhiem, K, Robson, M, Rodriguez, GC, Rogers, MT, Rudaitis, V, Schmidt, AY, Schmutzler, RK, Senter, L, Shah, PD, Sharma, P, Side, LE, Simard, J, Singer, CF, Skytte, AB, Slavin, TP, Snape, K, Sobol, H, Southey, M, Steele, L, Steinemann, D, Sukiennicki, G, Sutter, C, Szabo, CI, Tan, YY, Teixeira, MR, Terry, MB, Teule, A, Thomas, A, Thull, DL, Tischkowitz, M, Tognazzo, S, Toland, AE, Topka, S, Trainer, AH, Tung, N, van Asperen, CJ, van der Hout, AH, van der Kolk, LE, van der Luijt, RB, Van Heetvelde, M, Varesco, L, Varon-Mateeva, R, Vega, A, Villarreal-Garza, C, von Wachenfeldt, A, Walker, L, Wang-Gohrke, S, Wappenschmidt, B, Weber, BHF, Yannoukakos, D, Yoon, SY, Zanzottera, C, Zidan, J, Zorn, KK, Selkirk, CGH, Hulick, PJ, Chenevix-Trench, G, Spurdle, AB, Antoniou, AC, Nathanson, KL, EMBRACE, GEMO Study Collaborators, HEBON, KConFab Investigators

Publicada: 1 may 2018
Resumen:
The prevalence and spectrum of germline mutations in BRCA1 and BRCA2 have been reported in single populations, with the majority of reports focused on White in Europe and North America. The Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA) has assembled data on 18,435 families with BRCA1 mutations and 11,351 families with BRCA2 mutations ascertained from 69 centers in 49 countries on six continents. This study comprehensively describes the characteristics of the 1,650 unique BRCA1 and 1,731 unique BRCA2 deleterious (disease-associated) mutations identified in the CIMBA database. We observed substantial variation in mutation type and frequency by geographical region and race/ethnicity. In addition to known founder mutations, mutations of relatively high frequency were identified in specific racial/ethnic or geographic groups that may reflect founder mutations and which could be used in targeted (panel) first pass genotyping for specific populations. Knowledge of the population-specific mutational spectrum in BRCA1 and BRCA2 could inform efficient strategies for genetic testing and may justify a more broad-based oncogenetic testing in some populations.

Filiaciones:
Rebbeck, TR:
 Harvard TH Chan Sch Publ Hlth, Boston, MA USA

Friebel, TM:
 Harvard TH Chan Sch Publ Hlth, Boston, MA USA

Friedman, E:
 Chaim Sheba Med Ctr, Inst Human Genet, Susanne Levy Gertner Oncogenet Unit, IL-52621 Ramat Gan, Israel

 Tel Aviv Univ, Sackler Sch Med, Tel Aviv, Israel

Hamann, U:
 German Canc Res Ctr, Mol Genet Breast Canc, Heidelberg, Germany

Huo, DZ:
 Univ Chicago, Ctr Clin Canc Genet & Global Hlth, Chicago, IL 60637 USA

Kwong, A:
 Hong Kong Sanat & Hosp, Canc Genet Ctr, Hong Kong Hereditary Breast Canc Family Registry, Hong Kong, Hong Kong, Peoples R China

Olah, E:
 Natl Inst Oncol, Dept Mol Genet, Budapest, Hungary

Olopade, OI:
 Univ Chicago, Ctr Clin Canc Genet & Global Hlth, Chicago, IL 60637 USA

Solano, AR:
 Univ Buenos Aires, CONICET, Fac Med, INBIOMED, Buenos Aires, DF, Argentina

 CEMIC, Dept Clin Chem, Med Direct, Buenos Aires, DF, Argentina

Teo, SH:
 Sime Darby Med Ctr, Canc Res Initiat Fdn, Subang Jaya, Malaysia

Thomassen, M:
 Odense Univ Hosp, Dept Clin Genet, Odense, Denmark

Weitzel, JN:
 City Hope Canc Ctr, Div Clin Canc Genom, Duarte, CA USA

Chan, TL:
 Hong Kong Sanat & Hosp, Dept Pathol, Div Mol Pathol, Happy Valley, Hong Kong, Peoples R China

Fergus, J:
 Dept Lab Med & Pathol, Rochester, MN USA

Goldgar, DE:
 Univ Utah, Sch Med, Dept Dermatol, Salt Lake City, UT USA

Edenir, I:
 Barretos Canc Hosp, Mol Oncol Res Ctr, Sao Paulo, Brazil

Park, SK:
 Seoul Natl Univ, Coll Med, Dept Prevent Med, Seoul, South Korea

 Seoul Natl Univ, Grad Sch, Dept Biomed Sci, Seoul, South Korea

 Seoul Natl Univ, Canc Res Ctr, Seoul, South Korea

Torres, D:
 German Canc Res Ctr, Mol Genet Breast Canc, Heidelberg, Germany

 Pontificia Univ Javeriana, Inst Human Genet, Bogota, Colombia

van Rensburg, EJ:
 Univ Pretoria, Dept Genet, Canc Genet Lab, Pretoria, South Africa

McGuffog, L:
 Univ Cambridge, Dept Publ Hlth & Primary Care, Ctr Canc Genet Epidemiol, Cambridge, England

Parsons, MT:
 QIMR Berghofer Med Res Inst, Genet & Computat Biol Dept, Brisbane, Qld, Australia

Leslie, G:
 Univ Cambridge, Dept Publ Hlth & Primary Care, Ctr Canc Genet Epidemiol, Cambridge, England

Aalfs, CM:
 Acad Med Ctr, Dept Clin Genet, Amsterdam, Netherlands

Abugattas, J:
 City Hope Clin Canc Genom Community Res Network, Duarte, CA USA

Adlard, J:
 Chapel Allerton Hosp, Yorkshire Reg Genet Serv, Leeds, W Yorkshire, England

Agata, S:
 Veneto Inst Oncol IOV IRCCS, Immunol & Mol Oncol Unit, Padua, Italy

Aittomaki, K:
 Helsinki Univ Hosp, Dept Clin Genet, Helsinki, Finland

Andrews, L:
 Prince Wales Hosp, Hereditary Canc Clin, Randwick, NSW, Australia

Andrulis, IL:
 Lunenfeld Tanenbaum Res Inst, Toronto, ON, Canada

 Univ Toronto, Dept Mol Genet, Toronto, ON, Canada

Arason, A:
 Landspitali LSH V Hringbraut, Lab Cell Biol, Dept Pathol, Hus 9, IS-101 Reykjavik, Iceland

 Univ Iceland, Fac Med, BMC Biomed Ctr, Reykjavik, Iceland

Arnold, N:
 Med Univ Vienna, Dept Gynaecol & Oncol, Vienna, Austria

Arun, BK:
 Univ Texas MD Anderson Canc Ctr, Dept Breast Med Oncol, Houston, TX 77030 USA

 Univ Texas MD Anderson Canc Ctr, Clin Canc Genet Program, Houston, TX 77030 USA

Asseryanis, E:
 Med Univ Vienna, Dept OB GYN, Vienna, Austria

 Med Univ Vienna, Comprehens Canc Ctr, Vienna, Austria

Auerbach, L:
 Med Univ Vienna, Dept OB GYN, Vienna, Austria

 Med Univ Vienna, Comprehens Canc Ctr, Vienna, Austria

Azzollini, J:
 Fdn IRCCS Ist Ricovero & Cura Carattere Sci Inst, Dept Med Oncol & Hematol, Unit Med Genet, Milan, Italy

Balmana, J:
 Vall dHebron Univ Hosp, Dept Med Oncol, Barcelona, Spain

Barile, M:
 IEO, Div Canc Prevent & Genet, Milan, Italy

Barkardottir, RB:
 Landspitali LSH V Hringbraut, Lab Cell Biol, Dept Pathol, Hus 9, IS-101 Reykjavik, Iceland

 Univ Iceland, Fac Med, BMC Biomed Ctr, Reykjavik, Iceland

Barrowdale, D:
 Univ Cambridge, Dept Publ Hlth & Primary Care, Ctr Canc Genet Epidemiol, Cambridge, England

Benitez, J:
 Spanish Natl Canc Res Ctr CNIO, Human Canc Genet Programme, Human Genet Grp, Madrid, Spain

 Spanish Natl Canc Res Ctr CNIO, Human Canc Genet Programme, Genotyping Unit CEGEN, Madrid, Spain

 Biomed Network Rare Dis CIBERER, Madrid, Spain

Berger, A:
 Med Univ Vienna, Comprehens Canc Ctr, Dept OB GYN, Vienna, Austria

Berger, R:
 Chaim Sheba Med Ctr, Inst Oncol, Ramat Gan, Israel

Blanco, AM:
 UCSF Canc Genet & Prevent Program, San Francisco, CA USA

Blazer, KR:
 City Hope Canc Ctr, Div Clin Canc Genom, Duarte, CA USA

Blok, MJ:
 Maastricht Univ, Med Ctr, Dept Clin Genet, Maastricht, Netherlands

Bonadona, V:
 Ctr Leon Berard, Unite Prevent & Epidemiol Genet, 28 Rue Laennec, Lyon, France

Bonanni, B:
 IEO, Div Canc Prevent & Genet, Milan, Italy

Bradbury, AR:
 Univ Penn, Dept Med, Abramson Canc Ctr, Perelman Sch Med, Philadelphia, PA 19104 USA

Brewer, C:
 Royal Devon & Exeter Hosp, Dept Clin Genet, Exeter, Devon, England

Buecher, B:
 Inst Curie, Serv Genet, 26 Rue Ulm, Paris, France

Buys, SS:
 Huntsman Canc Inst, Dept Med, Salt Lake City, UT USA

Caldes, T:
 Ctr Invest Biomed Red Canc CIBERONC, Inst Invest Sanitaria San Carlos IdISSC, Hosp Clin San Carlos, Mol Oncol Lab, Madrid, Spain

Caliebe, A:
 Univ Hosp Schleswig Holstein, Inst Human Genet, Kiel, Germany

Caligo, MA:
 Univ Hosp Pisa, Dept Lab Med, Sect Mol Genet, Pisa, Italy

Campbell, I:
 Peter MacCallum Canc Ctr, Res Div, Melbourne, Vic, Australia

Caputo, SM:
 Inst Curie, Serv Genet, 26 Rue Ulm, Paris, France

Chiquette, J:
 Hop St Sacrement, CRCHU Quebec Oncol, Ctr Malad Sein Deschenes Fabia, Ste Foy, PQ, Canada

Chung, WK:
 Columbia Univ, Dept Pediat, New York, NY 10027 USA

 Columbia Univ, Dept Med, New York, NY USA

Claes, KBM:
 Univ Ghent, Ctr Med Genet, Ghent, Belgium

Collee, JM:
 Erasmus Univ, Med Ctr, Family Canc Clin, Dept Clin Genet, Rotterdam, Netherlands

Cook, J:
 Sheffield Childrens Hosp, Sheffield Clin Genet Serv, Sheffield, S Yorkshire, England

Davidson, R:
 South Glasgow Univ Hosp, Dept Clin Genet, Glasgow, Lanark, Scotland

de la Hoya, M:
 Ctr Invest Biomed Red Canc CIBERONC, Inst Invest Sanitaria San Carlos IdISSC, Hosp Clin San Carlos, Mol Oncol Lab, Madrid, Spain

De Leeneer, K:
 Univ Ghent, Ctr Med Genet, Ghent, Belgium

de Pauw, A:
 Inst Curie, Serv Genet, 26 Rue Ulm, Paris, France

Delnatte, C:
 ICO Ctr Rene Gauducheau, Unite Oncogenet, St Herblain, France

Diez, O:
 Vall dHebron Univ Hosp, Clin & Mol Genet Area, Vall dHebron Inst Oncol VHIO, Oncogenet Grp, Barcelona, Spain

Ding, YC:
 City Hope Natl Med Ctr, Beckman Res Inst, Dept Populat Sci, Duarte, CA USA

Ditsch, N:
 Ludwig Maximilians Univ Munchen, Dept Gynaecol & Obstet, Munich, Germany

Domchek, S:
 Univ Penn, Dept Med, Abramson Canc Ctr, Perelman Sch Med, Philadelphia, PA 19104 USA

Dorfling, CM:
 Univ Pretoria, Dept Genet, Canc Genet Lab, Pretoria, South Africa

Velazquez, C:
 Univ Valladolid, IBGM, Canc Hereditario, Valladolid, Spain

Dworniczak, B:
 Univ Munster, Inst Human Genet, Munster, Germany

Eason, J:
 Nottingham Univ Hosp NHS Trust, Nottingham Clin Genet Serv, Nottingham, England

Easton, DF:
 Univ Cambridge, Dept Publ Hlth & Primary Care, Ctr Canc Genet Epidemiol, Cambridge, England

Eeles, R:
 Inst Canc Res, Oncogenet Team, London, England

 Royal Marsden NHS Fdn Trust, London, England

Ehrencrona, H:
 Lund Univ Hosp, Dept Clin Genet, Lund, Sweden

Ejlertsen, B:
 Copenhagen Univ Hosp, Rigshosp, Dept Oncol, Copenhagen, Denmark

Engel, C:
 Univ Leipzig, Inst Med Informat Stat & Epidemiol, Leipzig, Germany

Engert, S:
 Tech Univ, Klinikum Rechts Isar, Div Tumor Genet, Dept Gynaecol & Obstet, Munich, Germany

Evans, DG:
 Univ Manchester, Cent Manchester Univ Hosp NHS Fdn Trust, Div Evolut & Genom Sci, Genom Med,Manchester Acad Hlth Sci Ctr, Manchester, Lancs, England

Faivre, L:
 Ctr Lutte Canc Georges Francois Leclerc, Dijon, France

 Dijon Univ Hosp, Genom & Immunotherapy Med Inst, Dijon, France

Feliubadalo, L:
 ICO IDIBELL Catalan Inst Oncol, Bellvitge Biomed Res Inst, Hereditary Canc Program, Mol Diagnost Unit, Barcelona, Spain

Ferrer, SF:
 Hotel Dieu Ctr Hosp, Lab Genet Chromos, Chambery, France

Foretova, L:
 Masaryk Mem Canc Inst, Dept Canc Epidemiol & Genet, Brno, Czech Republic

Fowler, J:
 Ohio State Univ, Columbus Canc Council, Columbus, OH 43210 USA

Frost, D:
 Univ Cambridge, Dept Publ Hlth & Primary Care, Ctr Canc Genet Epidemiol, Cambridge, England

Galvao, HCR:
 Barretos Canc Hosp, Oncogenet Dept, Barretos, Brazil

Ganz, PA:
 Univ Calif Los Angeles, Jonsson Comprehens Canc Ctr, Sch Med, Div Canc Prevent & Control Res, Los Angeles, CA 90024 USA

 Univ Calif Los Angeles, Jonsson Comprehens Canc Ctr, Sch Publ Hlth, Div Canc Prevent & Control Res, Los Angeles, CA 90024 USA

Garber, J:
 Dana Farber Canc Inst, Canc Risk & Prevent Clin, Boston, MA 02115 USA

Gauthier-Villars, M:
 Inst Curie, Serv Genet, 26 Rue Ulm, Paris, France

Gehrig, A:
 Univ Wurzburg, Inst Human Genet, Dept Med Genet, Ctr Familial Breast & Ovarian Canc, Wurzburg, Germany

Gerdes, AM:
 Dept Clin Genet, Copenhagen, Denmark

Gesta, P:
 Ctr Hosp, Serv Reg Oncogenet Poitou Charentes, Niort, France

Giannini, G:
 Univ Roma La Sapienza, Dept Mol Med, Rome, Italy

 Fdn Cenci Bolognetti, Inst Pasteur, Rome, Italy

Giraud, S:
 Ctr Leon Berard, Batiment Cheney D, Lyon, France

Glendon, G:
 Mt Sinai Hosp, Lunenfeld Tanenbaum Res Inst, Ontario Canc Genet Network, Toronto, ON, Canada

Godwin, AK:
 Univ Kansas, Med Ctr, Dept Pathol & Lab Med, Kansas City, MO USA

Greene, MH:
 NCI, Clin Genet Branch, DCEG, NIH, Bethesda, MD 20892 USA

Gronwald, J:
 Pomeranian Med Univ, Dept Genet & Pathol, Szczecin, Poland

Gutierrez-Barrera, A:
 Univ Texas MD Anderson Canc Ctr, Dept Breast Med Oncol, Houston, TX 77030 USA

 Univ Texas MD Anderson Canc Ctr, Clin Canc Genet Program, Houston, TX 77030 USA

Hahnen, E:
 Univ Hosp Cologne, Fac Med, CIO, Ctr Familial Breast & Ovarian Canc, Cologne, Germany

Hauke, J:
 Univ Hosp Cologne, Fac Med, CIO, Ctr Familial Breast & Ovarian Canc, Cologne, Germany

Henderson, A:
 Newcastle Upon Tyne Hosp NHS Trust, Ctr Life, Inst Genet Med, Newcastle Upon Tyne, Tyne & Wear, England

Hentschel, J:
 Univ Leipzig, Inst Human Genet, Leipzig, Germany

Hogervorst, FBL:
 Netherlands Canc Inst, Family Canc Clin, Amsterdam, Netherlands

Honisch, E:
 Heinrich Heine Univ, Univ Hosp Dusseldorf, Dept Gynaecol & Obstet, Dusseldorf, Germany

Imyanitov, EN:
 NN Petrov Inst Oncol, St Petersburg, Russia

Isaacs, C:
 Georgetown Univ, Lombardi Comprehens Canc Ctr, Washington, DC USA

Izatt, L:
 Guys & St Thomas NHS Fdn Trust, Clin Genet, London, England

Izquierdo, A:
 Catalan Inst Oncol, IDIBGI Inst Invest Biomed Girona, Hereditary Canc Program, Genet Counseling Unit, Girona, Spain

Jakubowska, A:
 Pomeranian Med Univ, Dept Genet & Pathol, Szczecin, Poland

James, P:
 Peter MacCallum Canc Ctr, Parkville Familial Canc Ctr, Melbourne, Vic, Australia

Janavicius, R:
 Vilnius Univ Hosp, Santariskiu Clin, Dept Mol & Regenerat Med, Hematol Oncol & Transfus Med Ctr, Vilnius, Lithuania

Jensen, UB:
 Aarhus Univ Hosp, Dept Clin Genet, Aarhus N, Denmark

John, EM:
 Canc Prevent Inst Calif, Dept Epidemiol, Fremont, CA USA

 Stanford Univ, Sch Med, Dept Hlth Res & Policy Epidemiol, Stanford, CA 94305 USA

 Stanford Univ, Sch Med, Stanford Canc Inst, Stanford, CA 94305 USA

Vijai, J:
 Mem Sloan Kettering Canc Ctr, Dept Med, Clin Genet Res Lab, 1275 York Ave, New York, NY 10021 USA

Kaczmarek, K:
 Pomeranian Med Univ, Dept Genet & Pathol, Szczecin, Poland

Karlan, BY:
 Cedars Sinai Med Ctr, Samuel Oschin Comprehens Canc Inst, Womens Canc Program, Los Angeles, CA 90048 USA

Kast, K:
 Med Fac, Dept Gynecol & Obstet, Dresden, Germany

 Univ Hosp Carl Gustav Carus, Dresden, Germany

Kim, SW:
 Daerim St Marys Hosp, Dept Surg, Seoul, South Korea

Konstantopoulou, I:
 Natl Ctr Sci Res Demokritos, INRASTES Inst Nucl & Radiol Sci & Technol, Mol Diagnost Lab, Athens, Greece

Korach, J:
 Chaim Sheba Med Ctr, Gynecooncol Dept, Ramat Gan, Israel

Laitman, Y:
 Chaim Sheba Med Ctr, Inst Human Genet, Susanne Levy Gertner Oncogenet Unit, IL-52621 Ramat Gan, Israel

 Tel Aviv Univ, Sackler Sch Med, Tel Aviv, Israel

Lasa, A:
 Hosp Santa Creu & Sant Pau, Serv Genet CIBERER U705, Barcelona, Spain

Lasset, C:
 Ctr Leon Berard, Unite Prevent & Epidemiol Genet, 28 Rue Laennec, Lyon, France

Lazaro, C:
 ICO IDIBELL Catalan Inst Oncol, Bellvitge Biomed Res Inst, Hereditary Canc Program, Mol Diagnost Unit, Barcelona, Spain

Lee, A:
 Feinstein Inst Med Res, Manhasset, NY USA

Lee, MH:
 Soonchunhyang Univ, Dept Surg, Seoul, South Korea

 Seoul Hosp, Seoul, South Korea

Lester, J:
 Cedars Sinai Med Ctr, Samuel Oschin Comprehens Canc Inst, Womens Canc Program, Los Angeles, CA 90048 USA

Lesueur, F:
 PSL Res Univ, Inserm U900, Inst Curie, Paris, France

Liljegren, A:
 Karolinska Univ Hosp, Dept Oncol Radiumhemmet, Solna, Sweden

 Karolinska Univ Hosp, Inst Oncol & Patol, Solna, Sweden

 Karolinska Inst, Solna, Sweden

Lindor, NM:
 Mayo Clin, Dept Hlth Sci Res, Scottsdale, AZ USA

Longy, M:
 Inst Bergonie, Oncogenet, Bordeaux, France

Loud, JT:
 NCI, Clin Genet Branch, DCEG, NIH, Bethesda, MD 20892 USA

Lu, KH:
 Univ Texas MD Anderson Canc Ctr, Clin Canc Genet Program, Houston, TX 77030 USA

 Univ Texas MD Anderson Canc Ctr, Dept Gynecol Oncol, Houston, TX 77030 USA

Lubinski, J:
 Pomeranian Med Univ, Dept Genet & Pathol, Szczecin, Poland

Machackova, E:
 Masaryk Mem Canc Inst, Dept Canc Epidemiol & Genet, Brno, Czech Republic

Manoukian, S:
 Fdn IRCCS Ist Ricovero & Cura Carattere Sci Inst, Dept Med Oncol & Hematol, Unit Med Genet, Milan, Italy

Mari, V:
 Ctr Antoine Lacassagne, Nice, France

Martinez-Bouzas, C:
 Hosp Univ Cruces, BioCruces Hlth Res Inst, Serv Genet, Lab Genet Mol, Baracaldo, Spain

Matrai, Z:
 Natl Inst Oncol, Dept Surg, Budapest, Hungary

Mebirouk, N:
 PSL Res Univ, Inserm U900, Inst Curie, Paris, France

Meijers-Heijboer, HEJ:
 Vrije Univ Amsterdam Med Ctr, Dept Clin Genet, Amsterdam, Netherlands

Meindl, A:
 Tech Univ, Klinikum Rechts Isar, Div Tumor Genet, Dept Gynaecol & Obstet, Munich, Germany

Mensenkamp, AR:
 Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, Netherlands

Mickys, U:
 Vilnius Univ, Santariskiu Hosp, Natl Ctr Pathol, Vilnius, Lithuania

Miller, A:
 Roswell Pk Canc Inst, NRG Oncol Stat & Data Management Ctr, Buffalo, NY 14263 USA

Montagna, M:
 Veneto Inst Oncol IOV IRCCS, Immunol & Mol Oncol Unit, Padua, Italy

Moysich, KB:
 Roswell Pk Canc Inst, Dept Canc Prevent & Control, Buffalo, NY 14263 USA

Mulligan, AM:
 Univ Toronto, Dept Lab Med & Pathobiol, Toronto, ON, Canada

Musinsky, J:
 Mem Sloan Kettering Canc Ctr, Dept Med, Clin Genet Res Lab, 1275 York Ave, New York, NY 10021 USA

Neuhausen, SL:
 City Hope Natl Med Ctr, Beckman Res Inst, Dept Populat Sci, Duarte, CA USA

Nevanlinna, H:
 Univ Helsinki, Dept Obstet & Gynecol, Helsinki, Finland

 Helsinki Univ Hosp, HUS, Helsinki, Finland

Ngeow, J:
 Natl Canc Ctr Singapore, Div Med Oncol, Canc Genet Serv, Bukit Merah, Singapore

Nguyen, HP:
 Univ Tubingen, Inst Med Genet & Appl Genom, Tubingen, Germany

Niederacher, D:
 Heinrich Heine Univ, Univ Hosp Dusseldorf, Dept Gynaecol & Obstet, Dusseldorf, Germany

Nielsen, HR:
 Odense Univ Hosp, Dept Clin Genet, Odense, Denmark

Nielsen, FC:
 Univ Copenhagen, Rigshosp, Ctr Genom Med, Copenhagen, Denmark

Nussbaum, RL:
 Univ Calif San Francisco, Canc Genet & Prevent Program, San Francisco, CA 94143 USA

Offit, K:
 Mem Sloan Kettering Canc Ctr, Dept Med, Clin Genet Res Lab, Canc Biol & Genet, 1275 York Ave, New York, NY 10021 USA

Ofverholm, A:
 Sahlgrens Univ Hosp, Dept Clin Genet, Gothenburg, Sweden

Ong, KR:
 Birmingham Womens Hosp Healthcare NHS Trust, West Midlands Reg Genet Serv, Edgbaston, England

Osorio, A:
 Spanish Natl Canc Res Ctr CNIO, Biomed Network Rare Dis CIBERER, Human Canc Genet Programme, Human Genet Grp, Madrid, Spain

Papi, L:
 Univ Florence, Dept Biomed Expt & Clin Sci, Unit Med Genet, Florence, Italy

Papp, J:
 Natl Inst Oncol, Dept Mol Genet, Budapest, Hungary

Pasini, B:
 Univ Turin, Dept Med Sci, Turin, Italy

Pedersen, IS:
 Aalborg Univ Hosp, Dept Biochem, Sect Mol Diagnost, Aalborg, Denmark

Peixoto, A:
 Portuguese Oncol Inst Porto IPO Porto, Dept Genet, Porto, Portugal

 Univ Porto, Biomed Sci Inst ICBAS, Porto, Portugal

Peruga, N:
 Pomeranian Med Univ, Dept Genet & Pathol, Szczecin, Poland

Peterlongo, P:
 FIRC Italian Fdn Canc Res, Inst Mol Oncol, IFOM, Milan, Italy

Pohl, E:
 Univ Hosp Cologne, Fac Med, CIO, Ctr Familial Breast & Ovarian Canc, Cologne, Germany

Pradhan, N:
 Mem Sloan Kettering Canc Ctr, Dept Med, Clin Genet Res Lab, 1275 York Ave, New York, NY 10021 USA

Prajzendanc, K:
 Pomeranian Med Univ, Dept Genet & Pathol, Szczecin, Poland

Prieur, F:
 Hop Nord St Etienne, Serv Genet Clin Chromos & Mol, St Etienne, France

Pujol, P:
 CHU Arnaud de Villeneuve, Unite Oncogenet, Montpellier, France

Radice, P:
 INT, Fdn IRCCS Ist Ricovero & Cura Carattere Sci, Dept Res, Unit Mol Bases Genet Risk & Genet Testing, Milan, Italy

Ramus, SJ:
 UNSW, Sch Womens & Childrens Hlth, Sydney, NSW, Australia

 Garvan Inst Med Res, Kinghorn Canc Ctr, Sydney, NSW, Australia

Rantala, J:
 Karolinska Univ Hosp, Dept Clin Genet, Stockholm, Sweden

Rashid, MU:
 German Canc Res Ctr, Mol Genet Breast Canc, Heidelberg, Germany

 Shaukat Khanum Mem Canc Hosp & Res Ctr, Dept Basic Sci, Lahore, Pakistan

Rhiem, K:
 Univ Hosp Cologne, Fac Med, CIO, Ctr Familial Breast & Ovarian Canc, Cologne, Germany

Robson, M:
 Mem Sloan Kettering Canc Ctr, Dept Med, Clin Genet Serv, 1275 York Ave, New York, NY 10021 USA

Rodriguez, GC:
 Univ Chicago, North Shore Univ Hlth Syst, Div Gynecol Oncol, Evanston, IL USA

Rogers, MT:
 Univ Hosp Wales, All Wales Med Genet Serv, Cardiff, S Glam, Wales

Rudaitis, V:
 Vilnius Univ Hosp, Santariskiu Clin, Ctr Womans Hlth & Pathol, Dept Gynecol, Vilnius, Lithuania

Schmidt, AY:
 Univ Copenhagen, Rigshosp, Ctr Genom Med, Copenhagen, Denmark

Schmutzler, RK:
 Univ Hosp Cologne, Fac Med, CIO, Ctr Familial Breast & Ovarian Canc, Cologne, Germany

Senter, L:
 Ohio State Univ, Comprehens Canc Ctr, Dept Internal Med, Clin Canc Genet Program,Div Human Genet, Columbus, OH 43210 USA

Shah, PD:
 Univ Penn, Dept Med, Abramson Canc Ctr, Perelman Sch Med, Philadelphia, PA 19104 USA

Sharma, P:
 Univ Kansas, Med Ctr, Dept Internal Med, Div Oncol, Westwood, KS USA

Side, LE:
 Great Ormond St Hosp Sick Children, North East Thames Reg Genet Serv, London, England

Simard, J:
 Ctr Hosp Univ Quebec Res Ctr, Genom Ctr, Quebec City, PQ, Canada

 Laval Univ, Quebec City, PQ, Canada

Singer, CF:
 Med Univ Vienna, Dept OB GYN, Vienna, Austria

 Med Univ Vienna, Comprehens Canc Ctr, Vienna, Austria

Skytte, AB:
 Aarhus Univ Hosp, Dept Clin Genet, Aarhus N, Denmark

Slavin, TP:
 City Hope Canc Ctr, Div Clin Canc Genom, Duarte, CA USA

Snape, K:
 Univ London, Med Genet Unit, London, England

Sobol, H:
 Marseille Med Sch AM Univ, Inst Paoli Calmettes, Dept Oncol Genet Prevent & Depistage, Marseille, France

Southey, M:
 Marseille Med Sch AM Univ, Inst Paoli Calmettes, Dept Oncol Genet Prevent & Depistage, Marseille, France

 Univ Melbourne, Dept Pathol, Genet Epidemiol Lab, Parkville, Vic, Australia

Steele, L:
 City Hope Natl Med Ctr, Beckman Res Inst, Dept Populat Sci, Duarte, CA USA

Steinemann, D:
 Hannover Med Sch, Inst Cell & Mol Pathol, Hannover, Germany

Sukiennicki, G:
 Pomeranian Med Univ, Dept Genet & Pathol, Szczecin, Poland

Sutter, C:
 Univ Hosp Heidelberg, Inst Human Genet, Heidelberg, Germany

Szabo, CI:
 NHGRI, NIH, Bethesda, MD 20892 USA

Tan, YY:
 Med Univ Vienna, Comprehens Canc Ctr, Dept OB GYN, Vienna, Austria

Teixeira, MR:
 Portuguese Oncol Inst Porto IPO Porto, Dept Genet, Porto, Portugal

 Univ Porto, Biomed Sci Inst ICBAS, Porto, Portugal

Terry, MB:
 Columbia Univ, Dept Epidemiol, New York, NY USA

Teule, A:
 CIBERONC, Catalan Inst Oncol, IDIBELL Bellvitge Biomed Res Inst, Genet Counseling Unit,Hereditary Canc Program, Barcelona, Spain

Thomas, A:
 Mayo Clin, Dept Hlth Sci Res, Rochester, MN USA

Thull, DL:
 Univ Pittsburgh, Sch Med, Dept Med, Magee Womens Hosp, Pittsburgh, PA 15213 USA

Tischkowitz, M:
 McGill Univ, Dept Human Genet, Program Canc Genet, Montreal, PQ, Canada

 McGill Univ, Dept Oncol, Program Canc Genet, Montreal, PQ, Canada

Tognazzo, S:
 Veneto Inst Oncol IOV IRCCS, Immunol & Mol Oncol Unit, Padua, Italy

Toland, AE:
 Ohio State Univ, Dept Internal Med, Div Human Genet, Comprehens Canc Ctr, Columbus, OH 43210 USA

 Ohio State Univ, Dept Canc Biol & Genet, Div Human Genet, Comprehens Canc Ctr, Columbus, OH 43210 USA

Topka, S:
 Mem Sloan Kettering Canc Ctr, Dept Med, Clin Genet Res Lab, 1275 York Ave, New York, NY 10021 USA

Trainer, AH:
 Royal Melbourne Hosp, Parkville Familial Canc Ctr, Melbourne, Vic, Australia

Tung, N:
 Beth Israel Deaconess Med Ctr, Dept Med Oncol, Boston, MA 02215 USA

van Asperen, CJ:
 Leiden Univ, Med Ctr, Dept Clin Genet, Leiden, Netherlands

van der Hout, AH:
 Univ Groningen, Univ Med Ctr, Dept Genet, Groningen, Netherlands

van der Kolk, LE:
 Netherlands Canc Inst, Family Canc Clin, Amsterdam, Netherlands

van der Luijt, RB:
 Univ Med Ctr, Dept Med Genet, Utrecht, Netherlands

Van Heetvelde, M:
 Univ Ghent, Ctr Med Genet, Ghent, Belgium

Varesco, L:
 IST Ist Nazl Ric Canc, IRCCS Ist Ricovero & Cura Carattere Sci AOU San M, Unit Hereditary Canc, Dept Epidemiol Prevent & Special Funct, Genoa, Italy

Varon-Mateeva, R:
 Campus Virchov Klinikum, Inst Human Genet, Berlin, Germany

Vega, A:
 IDIS, Fdn Publ Galega Med Xenom SERGAS, Grp Med Xenom USC, CIBERER, Santiago De Compostela, Spain

Villarreal-Garza, C:
 Inst Nacl Cancerol, Dept Invest & Tumores Mamarios, Mexico City, DF, Mexico

 Ctr Canc Mama Hosp Zambrano Hell Tecnol Monterrey, San Pedro Garza Garcia, Mexico

von Wachenfeldt, A:
 Karolinska Univ Hosp, Dept Oncol, Stockholm, Sweden

Walker, L:
 Churchill Hosp, Oxford Reg Genet Serv, Oxford, England

Wang-Gohrke, S:
 Univ Hosp, Dept Gynaecol & Obstet, Ulm, Germany

Wappenschmidt, B:
 Univ Hosp Cologne, Fac Med, CIO, Ctr Familial Breast & Ovarian Canc, Cologne, Germany

Weber, BHF:
 Regensburg Univ, Inst Human Genet, Regensburg, Germany

Yannoukakos, D:
 Natl Ctr Sci Res Demokritos, INRASTES Inst Nucl & Radiol Sci & Technol, Mol Diagnost Lab, Athens, Greece

Yoon, SY:
 Sime Darby Med Ctr, Canc Res Initiat Fdn, Subang Jaya, Malaysia

Zanzottera, C:
 Fdn IRCCS Ist Ricovero & Cura Carattere Sci Inst, Dept Med Oncol & Hematol, Unit Med Genet, Milan, Italy

Zidan, J:
 Rivka Ziv Med Ctr, Inst Oncol, Safed, Israel

Zorn, KK:
 Univ Pittsburgh, Magee Womens Hosp, Sch Med, Pittsburgh, PA 15213 USA

Selkirk, CGH:
 North Shore Univ Hlth Syst, Ctr Med Genet, Evanston, IL USA

Hulick, PJ:
 NorthShore Univ HealthSyst, Ctr Med Genet, Evanston, IL USA

 Univ Chicago, Pritzker Sch Med, Med, Evanston, IL USA

Chenevix-Trench, G:
 QIMR Berghofer Med Res Inst, Genet & Computat Biol Dept, Brisbane, Qld, Australia

Spurdle, AB:
 QIMR Berghofer Med Res Inst, Genet & Computat Biol Dept, Brisbane, Qld, Australia

Antoniou, AC:
 Univ Cambridge, Dept Publ Hlth & Primary Care, Ctr Canc Genet Epidemiol, Cambridge, England

Nathanson, KL:
 Univ Penn, Dept Med, Abramson Canc Ctr, Perelman Sch Med, Philadelphia, PA 19104 USA

Inst Curie, Dept Tumour Biol, Paris, France.
Peter MacCallum Canc Ctr, Res Dept, Melbourne, Vic, Australia.
ISSN: 10597794
Editorial
WILEY, 111 RIVER ST, HOBOKEN 07030-5774, NJ USA, Estados Unidos America
Tipo de documento: Article
Volumen: 39 Número: 5
Páginas: 593-620
WOS Id: 000433600000001
ID de PubMed: 29446198
imagen Green Accepted, Green Published

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