BRCA1 and BRCA2 pathogenic sequence variants in women of African origin or ancestry.
African ancestry
BRCA1
BRCA2
mutation
pathogenic sequence variant
Journal
Human mutation
ISSN: 1098-1004
Titre abrégé: Hum Mutat
Pays: United States
ID NLM: 9215429
Informations de publication
Date de publication:
10 2019
10 2019
Historique:
received:
02
01
2019
revised:
22
03
2019
accepted:
07
05
2019
pubmed:
22
5
2019
medline:
10
3
2020
entrez:
22
5
2019
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 31112363
doi: 10.1002/humu.23804
pmc: PMC6764847
mid: NIHMS1031504
doi:
Substances chimiques
BRCA1 Protein
0
BRCA1 protein, human
0
BRCA2 Protein
0
BRCA2 protein, human
0
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
1781-1796Subventions
Organisme : University of Pennsylvania: National Institutes of Health (NIH) (R01-CA102776 and R01-CA083855; Breast Cancer Research Foundation; Susan G. Komen Foundation for the cure, Basser Research Center for BRCA. UPITT/MWH: Hackers for Hope Pittsburgh. VFCTG: Victorian Cancer Agency, Cancer Australia, National Breast Cancer Foundation
ID : R01-CA083855
Pays : International
Organisme : NCATS NIH HHS
ID : UL1 TR000124
Pays : United States
Organisme : NCI NIH HHS
ID : U54 CA156732
Pays : United States
Organisme : NCI NIH HHS
ID : R01 CA083855
Pays : United States
Organisme : NCI NIH HHS
ID : P50 CA116201
Pays : United States
Organisme : NCI NIH HHS
ID : U10 CA037517
Pays : United States
Organisme : NCI NIH HHS
ID : R25 CA112486
Pays : United States
Organisme : NCI NIH HHS
ID : N02CP65504
Pays : United States
Organisme : NCI NIH HHS
ID : 5U54CA156732-07
Pays : United States
Organisme : NCI NIH HHS
ID : R01 CA192393
Pays : United States
Organisme : NCI NIH HHS
ID : U10 CA180822
Pays : United States
Organisme : CIMBA: CIMBA data management and data analysis were supported by Cancer Research - UK grants C12292/A20861, C12292/A11174. ACA is a Cancer Research -UK Senior Cancer Research Fellow. GCT and ABS are NHMRC Research Fellows. iCOGS: European Community's Seventh Framework Programme under grant agreement n° 223175 (HEALTH-F2-2009-223175) (COGS), Cancer Research UK (C1287/A10118, C1287/A 10710, C12292/A11174, C1281/A12014, C5047/A8384, C5047/A15007, C5047/A10692, C8197/A16565), National
Pays : International
Organisme : NCI NIH HHS
ID : N02CP11019
Pays : United States
Organisme : NCI NIH HHS
ID : U10 CA180868
Pays : United States
Organisme : NCI NIH HHS
ID : R03 CA130065
Pays : United States
Organisme : HRBCP: Hong Kong Sanatorium and Hospital, Dr Ellen Li Charitable Foundation, Kerry Group Kuok Foundation, National Institute of Health1R 03CA130065, and North California Cancer Center
ID : 03CA130065
Pays : International
Organisme : NCI NIH HHS
ID : R25CA112486
Pays : United States
Organisme : University California San Francisco: UCSF Cancer Risk Program and Helen Diller Family Comprehensive Cancer Center
Pays : International
Organisme : NCI: Intramural Research Program of the US National Cancer Institute, NIH, and by support services contracts NO2-CP-11019-50, N02-CP-21013-63 and N02-CP-65504 with Westat, Inc, Rockville, MD
ID : N02-CP-21013-63
Pays : International
Organisme : NCI: Intramural Research Program of the US National Cancer Institute, NIH, and by support services contracts NO2-CP-11019-50, N02-CP-21013-63 and N02-CP-65504 with Westat, Inc, Rockville, MD
ID : N02-CP-65504
Pays : International
Organisme : NCI NIH HHS
ID : R01 CA176785
Pays : United States
Organisme : NCI NIH HHS
ID : RC4 CA153828
Pays : United States
Organisme : NCI: Intramural Research Program of the US National Cancer Institute, NIH, and by support services contracts NO2-CP-11019-50, N02-CP-21013-63 and N02-CP-65504 with Westat, Inc, Rockville, MD
ID : NO2-CP-11019-50
Pays : International
Organisme : NCI NIH HHS
ID : R01 CA142996
Pays : United States
Organisme : BMBSA is supported by Cancer Association of South Africa
Pays : International
Organisme : BCFR - all: CA164920 from National Cancer Institute. The content of this manuscript does not necessarily reflect the views or policies of the National Cancer Institute or any of the collaborating centers in the Breast Cancer Family Registry (BCFR), nor does mention of trade names, commercial products, or organizations imply endorsement by the US Government or the BCFR
Pays : International
Organisme : NCI NIH HHS
ID : RC4CA153828
Pays : United States
Organisme : NCI NIH HHS
ID : P50 CA125183
Pays : United States
Organisme : NCI NIH HHS
ID : UM1 CA164920
Pays : United States
Organisme : NCI NIH HHS
ID : P30 CA168524
Pays : United States
Organisme : NCI NIH HHS
ID : U01 CA161032
Pays : United States
Organisme : Beth Israel Deaconess Medical Center is supported by Breast Cancer Research Foundation
Pays : International
Organisme : NCI NIH HHS
ID : U10 CA027469
Pays : United States
Organisme : Fox Chase Cancer Center: University of Kansas Cancer Center and Kansas Bioscience Authority Eminent Scholar Program and by Chancellors Distinguished Chair in Biomedical Sciences Professorship
ID : R0 1CA140323
Pays : International
Organisme : University of Pennsylvania: National Institutes of Health (NIH) (R01-CA102776 and R01-CA083855; Breast Cancer Research Foundation; Susan G. Komen Foundation for the cure, Basser Research Center for BRCA. UPITT/MWH: Hackers for Hope Pittsburgh. VFCTG: Victorian Cancer Agency, Cancer Australia, National Breast Cancer Foundation
ID : R01-CA102776
Pays : International
Organisme : FPGMX: Mutua Madrileña Foundation (FMMA)
ID : FISPI05/2275
Pays : International
Organisme : GEMO: Ligue Nationale Contre le Cancer; the Association "Le cancer du sein, parlons-en!" Award, Canadian Institutes of Health Research for the "CIHR Team in Familial Risks of Breast Cancer" program and French National Institute of Cancer (INCa)
Pays : International
Organisme : Cancer Research UK Grants
ID : C1287/A10118
Pays : International
Organisme : NCI NIH HHS
ID : U01 CA116167
Pays : United States
Organisme : NCI NIH HHS
ID : R01 CA214545
Pays : United States
Organisme : NCI NIH HHS
ID : R01 CA128978
Pays : United States
Organisme : Mayo Clinic: NIH, NCI Specialized Program of Research Excellence (SPORE), and a grant from the Breast Cancer Research Foundation
ID : CA116201
Pays : International
Organisme : NCI NIH HHS
ID : P30 CA008748
Pays : United States
Organisme : Mayo Clinic: NIH, NCI Specialized Program of Research Excellence (SPORE), and a grant from the Breast Cancer Research Foundation
ID : CA176785
Pays : International
Organisme : NCI NIH HHS
ID : U19 CA148537
Pays : United States
Organisme : NCI NIH HHS
ID : P30 CA051008
Pays : United States
Organisme : NCI NIH HHS
ID : R01 CA116167
Pays : United States
Organisme : NCI NIH HHS
ID : R01 CA102776
Pays : United States
Organisme : Mayo Clinic: NIH, NCI Specialized Program of Research Excellence (SPORE), and a grant from the Breast Cancer Research Foundation
ID : CA116167
Pays : International
Organisme : Cancer Research UK
ID : 10118
Pays : United Kingdom
Organisme : NCI NIH HHS
ID : R01 CA207365
Pays : United States
Organisme : University of California Los Angeles: Jonsson Comprehensive Cancer Center Foundation; Breast Cancer Research Foundation
Pays : International
Organisme : NCI NIH HHS
ID : U19 CA148112
Pays : United States
Organisme : NCI NIH HHS
ID : R01 CA149429
Pays : United States
Organisme : GEORGETOWN: Non-Therapeutic Subject Registry Shared Resource at Georgetown University (NIH/NCI grant P30-CA051008), Fisher Center for Hereditary Cancer and Clinical Genomics Research, and Swing Fore the Cure
ID : P30-CA051008
Pays : International
Organisme : NCI NIH HHS
ID : U19 CA148065
Pays : United States
Organisme : UKFOCR: Cancer Research UK
Pays : International
Organisme : Mayo Clinic: NIH, NCI Specialized Program of Research Excellence (SPORE), and a grant from the Breast Cancer Research Foundation
ID : CA192393
Pays : International
Organisme : Cancer Research UK Grants
ID : C1287/A11990
Pays : International
Informations de copyright
© 2019 Wiley Periodicals, Inc.
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