Journal
HUMAN MUTATION
Volume 40, Issue 10, Pages 1781-1796Publisher
WILEY
DOI: 10.1002/humu.23804
Keywords
African ancestry; BRCA1; BRCA2; mutation; pathogenic sequence variant
Categories
Funding
- Ligue Nationale Contre le Cancer
- Association Le cancer du sein, parlons-en! Award
- Canadian Institutes of Health Research for the CIHR Team in Familial Risks of Breast Cancer program
- French National Institute of Cancer (INCa)
- University of California Los Angeles: Jonsson Comprehensive Cancer Center Foundation
- Breast Cancer Research Foundation [CA176785, CA192393, CA116201, CA116167]
- Mayo Clinic: NIH, NCI Specialized Program of Research Excellence (SPORE)
- NCI: Intramural Research Program of the US National Cancer Institute, NIH
- Westat, Inc, Rockville, MD [NO2-CP-11019-50, N02-CP-21013-63, N02-CP-65504]
- National Cancer Institute [RC4CA153828, 5U54CA156732-07, R25CA112486, CA164920]
- Mutua Madrilena Foundation (FMMA) [FISPI05/2275]
- Memorial Sloane Kettering Cancer Center: Breast Cancer Research Foundation
- Robert and Kate Niehaus Clinical Cancer Genetics Initiative
- Andrew Sabin Research Fund
- Cancer Center Support Grant/Core Grant [P30 CA008748]
- Fox Chase Cancer Center: University of Kansas Cancer Center
- Kansas Bioscience Authority Eminent Scholar Program
- Chancellors Distinguished Chair in Biomedical Sciences Professorship [R01 CA214545, P30 CA168524, R0 1CA140323]
- University of Pennsylvania: National Institutes of Health (NIH) [R01-CA102776, R01-CA083855]
- Susan G. Komen Foundation for the cure
- Basser Research Center for BRCA
- Hackers for Hope Pittsburgh
- Victorian Cancer Agency
- Cancer Australia
- National Breast Cancer Foundation [R01-CA102776, R01CA083855]
- Hong Kong Sanatorium and Hospital
- Dr Ellen Li Charitable Foundation
- Kerry Group Kuok Foundation
- National Institute of Health [1R 03CA130065]
- North California Cancer Center [03CA130065]
- Cancer Association of South Africa
- University California San Francisco: UCSF Cancer Risk Program
- Cancer Research - UK [C12292/A20861, C12292/A11174]
- European Community's Seventh Framework Programme [223175 (HEALTH-F2-2009-223175)]
- Cancer Research UK [C12292/A11174, C1287/A10118, C1287/A 10710, C1281/A12014, C5047/A8384, C5047/A15007, C5047/A10692, C8197/A16565, C1287/A11990]
- Non-Therapeutic Subject Registry Shared Resource at Georgetown University (NIH/NCI) [P30-CA051008]
- Fisher Center for Hereditary Cancer and Clinical Genomics Research
- Swing Fore the Cure [P30-CA051008]
- University California San Francisco: Helen Diller Family Comprehensive Cancer Center
- NATIONAL CANCER INSTITUTE [ZIACP010144] Funding Source: NIH RePORTER
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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 Investigators of Modifiers of BRCA1/2 (CIMBA) database to identify African or African descent individuals. Using these data, we inferred which of the BRCA PSVs were likely to be of African continental origin. Of the 43,817 BRCA1/2 PSV carriers in the CIMBA database, 469 (1%) were of African descent. Additional African descent individuals were identified in public databases (n = 291) and the literature (n = 601). We identified 164 unique BRCA1 and 173 unique BRCA2 PSVs in individuals of African ancestry. Of these, 83 BRCA1 and 91 BRCA2 PSVs are of likely or possible African origin. We observed numerous differences in the distribution of PSV type and function in African origin versus non-African origin PSVs. Research in populations of African ancestry with BRCA1/2 PSVs is needed to provide the information needed for clinical management and decision-making in African descent individuals worldwide.
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