Article
BRCA1 and BRCA2 pathogenic sequence variants in women of African origin or ancestry.
Human mutation - 1 Oct 2019
Friebel Tara M, Andrulis Irene L, Balmaña Judith, Blanco Amie M, Couch Fergus J, Daly Mary B, Domchek Susan M, Easton Douglas F, Foulkes William D, Ganz Patricia A, Garber Judy, Glendon Gord, Greene Mark H, Hulick Peter J, Isaacs Claudine, Jankowitz Rachel C, Karlan Beth Y, Kirk Judy, Kwong Ava, Lee Annette, Lesueur Fabienne, Lu Karen H, Nathanson Katherine L, Neuhausen Susan L, Offit Kenneth, Palmero Edenir I, Sharma Priyanka, Tischkowitz Marc, Toland Amanda E, Tung Nadine, van Rensburg Elizabeth J, Vega Ana, Weitzel Jeffrey N, Collaborators Gemo Study, Hoskins Kent F, Maga Tara, Parsons Michael T, McGuffog Lesley, Antoniou Antonis C, Chenevix-Trench Georgia, Huo Dezheng, Olopade Olufunmilayo I, Rebbeck Timothy R
Abstract excerpt
BRCA1 and BRCA2 (BRCA1/2) pathogenic sequence variants (PSVs) confer elevated risks of multiple cancers. However, most BRCA1/2 PSVs reports focus on European ancestry individuals. Knowledge of the PSV distribution in African descent individuals is poorly understood. We undertook a systematic review of the published literature and publicly available databases reporting BRCA1/2 PSVs also accessed the Consortium of...
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