Inheritance of deleterious mutations at both BRCA1 and BRCA2 in an international sample of 32,295 women.

Rebbeck, Timothy R; Friebel, Tara M; Mitra, Nandita; Wan, Fei; Chen, Stephanie; Andrulis, Irene L; Apostolou, Paraskevi; Arnold, Norbert; Arun, Banu K; Barrowdale, Daniel; Benitez, Javier; Berger, Raanan; Berthet, Pascaline; Borg, Ake; Buys, Saundra S; Caldes, Trinidad; Carter, Jonathan; Chiquette, Jocelyne; Claes, Kathleen B M; Couch, Fergus J; Cybulski, Cezary; Daly, Mary B; de la Hoya, Miguel; Diez, Orland; Domchek, Susan M; Nathanson, Katherine L; Durda, Katarzyna; Ellis, Steve; Evans, D Gareth; Foretova, Lenka; Friedman, Eitan; Frost, Debra; Ganz, Patricia A; Garber, Judy; Glendon, Gord; Godwin, Andrew K; Greene, Mark H; Gronwald, Jacek; Hahnen, Eric; Hallberg, Emily; Hamann, Ute; Hansen, Thomas V O; Imyanitov, Evgeny N; Isaacs, Claudine; Jakubowska, Anna; Janavicius, Ramunas; Jaworska-Bieniek, Katarzyna; John, Esther M; Karlan, Beth Y; Kaufman, Bella; Investigators, KConFab; Kwong, Ava; Laitman, Yael; Lasset, Christine; Lazaro, Conxi; Lester, Jenny; Loman, Niklas; Lubinski, Jan; Manoukian, Siranoush; Mitchell, Gillian; Montagna, Marco; Neuhausen, Susan L; Nevanlinna, Heli; Niederacher, Dieter; Nussbaum, Robert L; Offit, Kenneth; Olah, Edith; Olopade, Olufunmilayo I; Park, Sue Kyung; Piedmonte, Marion; Radice, Paolo; Rappaport-Fuerhauser, Christine; Rookus, Matti A; Seynaeve, Caroline; Simard, Jacques; Singer, Christian F; Soucy, Penny; Southey, Melissa; Stoppa-Lyonnet, Dominique; Sukiennicki, Grzegorz; Szabo, Csilla I; Tancredi, Mariella; Teixeira, Manuel R; Teo, Soo-Hwang; Terry, Mary Beth; Thomassen, Mads; Tihomirova, Laima; Tischkowitz, Marc; Toland, Amanda Ewart; Toloczko-Grabarek, Aleksandra; Tung, Nadine; van Rensburg, Elizabeth J; Villano, Danylo; Wang-Gohrke, Shan; Wappenschmidt, Barbara; Weitzel, Jeffrey N; Zidan, Jamal; Zorn, Kristin K; McGuffog, Lesley; Easton, Douglas; Chenevix-Trench, Georgia; Antoniou, Antonis C; Ramus, Susan J

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Please use this identifier to cite or link to this item: https://hdl.handle.net/20.500.12530/24526

Title:	Inheritance of deleterious mutations at both BRCA1 and BRCA2 in an international sample of 32,295 women.
Authors:	Rebbeck, Timothy R Friebel, Tara M Mitra, Nandita Wan, Fei Chen, Stephanie Andrulis, Irene L Apostolou, Paraskevi Arnold, Norbert Arun, Banu K Barrowdale, Daniel Benitez, Javier Berger, Raanan Berthet, Pascaline Borg, Ake Buys, Saundra S Caldes, Trinidad Carter, Jonathan Chiquette, Jocelyne Claes, Kathleen B M Couch, Fergus J Cybulski, Cezary Daly, Mary B de la Hoya, Miguel Diez, Orland Domchek, Susan M Nathanson, Katherine L Durda, Katarzyna Ellis, Steve Evans, D Gareth Foretova, Lenka Friedman, Eitan Frost, Debra Ganz, Patricia A Garber, Judy Glendon, Gord Godwin, Andrew K Greene, Mark H Gronwald, Jacek Hahnen, Eric Hallberg, Emily Hamann, Ute Hansen, Thomas V O Imyanitov, Evgeny N Isaacs, Claudine Jakubowska, Anna Janavicius, Ramunas Jaworska-Bieniek, Katarzyna John, Esther M Karlan, Beth Y Kaufman, Bella Investigators, KConFab Kwong, Ava Laitman, Yael Lasset, Christine Lazaro, Conxi Lester, Jenny Loman, Niklas Lubinski, Jan Manoukian, Siranoush Mitchell, Gillian Montagna, Marco Neuhausen, Susan L Nevanlinna, Heli Niederacher, Dieter Nussbaum, Robert L Offit, Kenneth Olah, Edith Olopade, Olufunmilayo I Park, Sue Kyung Piedmonte, Marion Radice, Paolo Rappaport-Fuerhauser, Christine Rookus, Matti A Seynaeve, Caroline Simard, Jacques Singer, Christian F Soucy, Penny Southey, Melissa Stoppa-Lyonnet, Dominique Sukiennicki, Grzegorz Szabo, Csilla I Tancredi, Mariella Teixeira, Manuel R Teo, Soo-Hwang Terry, Mary Beth Thomassen, Mads Tihomirova, Laima Tischkowitz, Marc Toland, Amanda Ewart Toloczko-Grabarek, Aleksandra Tung, Nadine van Rensburg, Elizabeth J Villano, Danylo Wang-Gohrke, Shan Wappenschmidt, Barbara Weitzel, Jeffrey N Zidan, Jamal Zorn, Kristin K McGuffog, Lesley Easton, Douglas Chenevix-Trench, Georgia Antoniou, Antonis C Ramus, Susan J View more
Keywords:	BRCA1 BRCA2 Hereditary breast and ovarian cancer Transheterozygosity View more
Mesh:	Alleles Breast Neoplasms Exons Female Heterozygote Humans Loss of Heterozygosity Phenotype Promoter Regions, Genetic Genes, BRCA1 Genes, BRCA2 Germ-Line Mutation Population Surveillance View more
Issue Date:	2016
Citation:	Breast Cancer Res..2016 11;(18)1:112
Abstract:	Most BRCA1 or BRCA2 mutation carriers have inherited a single (heterozygous) mutation. Transheterozygotes (TH) who have inherited deleterious mutations in both BRCA1 and BRCA2 are rare, and the consequences of transheterozygosity are poorly understood.
PMID:	27836010
URI:	https://hdl.handle.net/20.500.12530/24526
Rights:	openAccess
Appears in Collections:	Fundaciones e Institutos de Investigación > IIS H. U. Clínico San Carlos > Artículos

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