Article
Haplotype structure in Ashkenazi Jewish BRCA1 and BRCA2 mutation carriers.
Human genetics - 1 Nov 2011
Im Kate M, Kirchhoff Tomas, Wang Xianshu, Green Todd, Chow Clement Y, Vijai Joseph, Korn Joshua, Gaudet Mia M, Fredericksen Zachary, Shane Pankratz V, Guiducci Candace, Crenshaw Andrew, McGuffog Lesley, Kartsonaki Christiana, Morrison Jonathan, Healey Sue, Sinilnikova Olga M, Mai Phuong L, Greene Mark H, Piedmonte Marion, Rubinstein Wendy S, Hogervorst Frans B, Rookus Matti A, Collée J Margriet, Hoogerbrugge Nicoline, van Asperen Christi J, Meijers-Heijboer Hanne E J, Van Roozendaal Cees E, Caldes Trinidad, Perez-Segura Pedro, Jakubowska Anna, Lubinski Jan, Huzarski Tomasz, Blecharz Paweł, Nevanlinna Heli, Aittomäki Kristiina, Lazaro Conxi, Blanco Ignacio, Barkardottir Rosa B, Montagna Marco, D'Andrea Emma, Devilee Peter, Olopade Olufunmilayo I, Neuhausen Susan L, Peissel Bernard, Bonanni Bernardo, Peterlongo Paolo, Singer Christian F, Rennert Gad, Lejbkowicz Flavio, Andrulis Irene L, Glendon Gord, Ozcelik Hilmi, Toland Amanda Ewart, Caligo Maria Adelaide, Beattie Mary S, Chan Salina, Domchek Susan M, Nathanson Katherine L, Rebbeck Timothy R, Phelan Catherine, Narod Steven, John Esther M, Hopper John L, Buys Saundra S, Daly Mary B, Southey Melissa C, Terry Mary-Beth, Tung Nadine, Hansen Thomas V O, Osorio Ana, Benitez Javier, Durán Mercedes, Weitzel Jeffrey N, Garber Judy, Hamann Ute, Peock Susan, Cook Margaret, Oliver Clare T, Frost Debra, Platte Radka, Evans D Gareth, Eeles Ros, Izatt Louise, Paterson Joan, Brewer Carole, Hodgson Shirley, Morrison Patrick J, Porteous Mary, Walker Lisa, Rogers Mark T, Side Lucy E, Godwin Andrew K, Schmutzler Rita K, Wappenschmidt Barbara, Laitman Yael, Meindl Alfons, Deissler Helmut, Varon-Mateeva Raymonda, Preisler-Adams Sabine, Kast Karin, Venat-Bouvet Laurence, Stoppa-Lyonnet Dominique, Chenevix-Trench Georgia, Easton Douglas F, Klein Robert J, Daly Mark J, Friedman Eitan, Dean Michael, Clark Andrew G, Altshuler David M, Antoniou Antonis C, Couch Fergus J, Offit Kenneth, Gold Bert
Abstract excerpt
Three founder mutations in BRCA1 and BRCA2 contribute to the risk of hereditary breast and ovarian cancer in Ashkenazi Jews (AJ). They are observed at increased frequency in the AJ compared to other BRCA mutations in Caucasian non-Jews (CNJ). Several authors have proposed that elevated allele frequencies in the surrounding genomic regions reflect adaptive or balancing selection. Such proposals predict long-range...