Article
Inheritance of deleterious mutations at both BRCA1 and BRCA2 in an international sample of 32,295 women.
Breast cancer research : BCR - 11 Nov 2016
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
Abstract excerpt
BACKGROUND: 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. METHODS: From 32,295 female BRCA1/2 mutation carriers, we identified 93 TH (0.3 %). "Cases" were defined as TH, and "controls" were single mutations at...
