ArticleHuman mutation2019
BRCA1 and BRCA2 pathogenic sequence variants in women of African origin or ancestry.
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Article in Human mutation, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.
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28citing papers in PubMed
4.3field-weighted citation impact, top 6% of its field
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Who cites it
28 citing papers in PubMed, 41 citations in OpenAlex.
- Homologous Recombination Deficiency and Survival in Ovarian High-Grade Serous Carcinoma by Self-Reported Race.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2025Article
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- Estimating Cancer Penetrance in Carriers of BRCA2 Pathogenic Variants Using Cancer-Specific Polygenic Scores.Cancer medicine · 2025Observational
- The patterns and spectrum of BRCA1 and BRCA2 mutations in Iranian breast and ovarian cancer patients.Familial cancer · 2025Article
- Germline sequence variation in cancer genes in Rwandan breast and prostate cancer cases.NPJ genomic medicine · 2024Article
- Heterogeneous genetic architectures of prostate cancer susceptibility in sub-Saharan Africa.Nature genetics · 2024Article
- Disparate Rates of Germline Variants in Cancer Predisposition Genes in African American/Black Compared With Non-Hispanic White Individuals Between 2015 and 2022.JCO precision oncology · 2024Article
- Using Portuguese BRCA pathogenic variation as a model to study the impact of human admixture on human health.BMC genomics · 2024Article
- Disparities in care of older adults of color with cancer: A narrative review.Cancer medicine · 2024Review
- Pathogenic variants in human DNA damage repair genes mostly arose after the latest human out-of-Africa migration.Frontiers in genetics · 2024Article
- Heterogeneous genetic architectures and evolutionary genomics of prostate cancer in Sub-Saharan Africa.Research square · 2023Article
- Breast Cancer Germline Genetic Counseling and Testing for Populations of African Heritage Globally: A Scoping Review on Research, Practice, and Bioethical Considerations.JCO global oncology · 2023Article
- Ethnic-specificity, evolution origin and deleteriousness of Asian BRCA variation revealed by over 7500 BRCA variants derived from Asian population.International journal of cancer · 2023Article
- A global perspective on the ethnic-specificJournal of the National Cancer Center · 2023Review
- A Review of the Nucleic Acid-Based Lateral Flow Assay for Detection of Breast Cancer from Circulating Biomarkers at a Point-of-Care in Low Income Countries.Diagnostics (Basel, Switzerland) · 2022Review
- Cancer in sub-Saharan Africa: a Lancet Oncology Commission.The Lancet. Oncology · 2022Review
- Analysis of the genomic landscapes of Barbadian and Nigerian women with triple negative breast cancer.Cancer causes & control : CCC · 2022Article
- Mutational spectrum of breast cancer susceptibility genes among women ascertained in a cancer risk clinic in Northeast Brazil.Breast cancer research and treatment · 2022Article
- Common founder BRCA2 pathogenic variants and breast cancer characteristics in Ethiopian Jews.Breast cancer research and treatment · 2022Article
- The distinct impacts of race and genetic ancestry on health.Nature medicine · 2022Article
Corrections and comments
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Authors and funding
43 authors at 20 institutions in 10 countries.
Tara M FriebelHarvard T.H. Chan School of Public Health, Boston, Massachusetts.
Irene L AndrulisFred A. Litwin Center for Cancer Genetics, Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital, Toronto, Ontario, Canada.
Judith BalmañaHigh Risk and Cancer Prevention Group, Vall d'Hebron Institute of Oncology, University Hospital Vall d'Hebron, Barcelona, Spain.
Amie M BlancoCancer Genetics and Prevention Program, University of California San Francisco, San Francisco, California.
Fergus J CouchDepartment of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota.
Mary B DalyDepartment of Clinical Genetics, Fox Chase Cancer Center, Philadelphia, Pennsylvania.
Susan M DomchekDepartment of Medicine, Abramson Cancer Center, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania.ORCID 0000-0002-5914-7272
Douglas F EastonDepartment of Oncology, Centre for Cancer Genetic Epidemiology, University of Cambridge, Cambridge, UK.
William D FoulkesDepartments of Human Genetics and Oncology, Program in Cancer Genetics, McGill University, Montréal, Quebec, Canada.ORCID 0000-0001-7427-4651
Patricia A GanzDivision of Cancer Prevention & Control Research, Jonsson Comprehensive Cancer Centre, Schools of Medicine and Public Health, UCLA, Los Angeles, California.
Judy GarberCancer Risk and Prevention Clinic, Dana-Farber Cancer Institute, Boston, Massachusetts.
Gord GlendonFred A. Litwin Center for Cancer Genetics, Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital, Toronto, Ontario, Canada.
Mark H GreeneDivision of Cancer Epidemiology and Genetics, Clinical Genetics Branch, National Cancer Institute, Bethesda, Maryland.
Peter J HulickCenter for Medical Genetics, NorthShore University HealthSystem, Evanston, Illinois.
Claudine IsaacsLombardi Comprehensive Cancer Center, Georgetown University, Washington, District of Columbia.
Rachel C JankowitzDivision of Hematology/Oncology, Department of Medicine, UPMC Hillman Cancer Center, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania.
Beth Y KarlanCedars-Sinai Medical Center, Womens Cancer Program at the Samuel Oschin Comprehensive Cancer Institute, Los Angeles, California.
Judy KirkFamilial Cancer Service, Weatmead Hospital, Wentworthville, New South Wales, Australia.
Ava KwongCancer Genetics Centre, Hong Kong Hereditary Breast Cancer Family Registry, Happy Valley, Hong Kong, China.
Annette LeeThe Feinstein Institute for Medical Research, Manhasset, New York.
Fabienne LesueurGenetic Epidemiology of Cancer team, Inserm, Paris, France.
Karen H LuDepartment of Gynecologic Oncology and Clinical Cancer Genetics Program, University of Texas MD Anderson Cancer Center, Houston, Texas.
Katherine L NathansonDepartment of Medicine, Abramson Cancer Center, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania.
Susan L NeuhausenDepartment of Population Sciences, Beckman Research Institute of City of Hop, Duarte, California.
Kenneth OffitDepartment of Cancer Biology and Genetics, Clinical Genetics Research Lab, Memorial Sloan-Kettering Cancer Center, New York, New York.
Edenir I PalmeroMolecular Oncology Research Center, Barretos Cancer Hospital, São Paulo, Brazil.
Priyanka SharmaDivision of Oncology, Department of Internal Medicine, University of Kansas Medical Center, Westwood, Kansas.
Marc TischkowitzDepartments of Human Genetics and Oncology, Program in Cancer Genetics, McGill University, Montréal, Quebec, Canada.
Amanda E TolandDepartment of Cancer Biology and Genetics, The Ohio State University, Columbus, Ohio.ORCID 0000-0002-0271-1792
Nadine TungDepartment of Medical Oncology, Beth Israel Deaconess Medical Center, Boston, Massachusetts.
Elizabeth J van RensburgDepartment of Genetics, University of Pretoria, Arcadia, South Africa.
Ana VegaFundación Pública Galega Medicina Xenómica, Santiago De Compostela, Spain.ORCID 0000-0002-7416-5137
Jeffrey N WeitzelClinical Cancer Genetics, City of Hope, Duarte, California.
Gemo Study CollaboratorsService de Génétique, Institut Curie, Paris, France.
Kent F HoskinsDepartment of Medicine, University of Illinois, Chicago, Illinois.
Tara MagaDepartment of Medicine, University of Illinois, Chicago, Illinois.
Michael T ParsonsDepartment of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.ORCID 0000-0003-3242-8477
Lesley McGuffogDepartment of Public Health and Primary Care, Centre for Cancer Genetic Epidemiology, University of Cambridge, Cambridge, UK.
Antonis C AntoniouDepartment of Public Health and Primary Care, Centre for Cancer Genetic Epidemiology, University of Cambridge, Cambridge, UK.
Georgia Chenevix-TrenchDepartment of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.
Dezheng HuoCenter for Clinical Cancer Genetics, The University of Chicago, Chicago, Illinois.
Olufunmilayo I OlopadeCenter for Clinical Cancer Genetics, The University of Chicago, Chicago, Illinois.
Timothy R RebbeckHarvard T.H. Chan School of Public Health, Boston, Massachusetts.ORCID 0000-0002-4799-1900
University of Cambridge · GBCity of Hope · USHarvard University · USIllinois College · USMount Sinai Hospital · CAQIMR Berghofer Medical Research Institute · AUUniversity of Chicago · USUniversity of Pennsylvania · USBeth Israel Deaconess Medical Center · USBreast Cancer Research Foundation · USCancer Genetics (United States) · USCancer Research Institute · USCedars-Sinai Medical Center · USCentre for Biomedical Network Research on Rare Diseases · ESComprehensive Blood & Cancer Center · USDana-Farber Cancer Institute · USFeinstein Institute for Medical Research · USFox Chase Cancer Center · USGeorgetown University · USHebron University · PS
Funding
X-RAY CRYSTALLOGRAPHYP30CA008748 · NCI · SLOAN-KETTERING INSTITUTE FOR CANCER RES · PI Hongbiao Carl Lekaye · 1985 to 2026
$347.4MNRG Oncology Network Group Operations Center - GY9 BIQSFP Reports/BudgetsU10CA180868 · NCI · NRG ONCOLOGY FOUNDATION, INC. · PI NORMAN WOLMARK · 2014 to 2026
$206.8MStatistics CoreU10CA180822 · NCI · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI James J. Dignam, GREG YOTHERS · 2014 to 2026
$146.4MGYNECOLOGIC ONCOLOGY GROUP HEADQUARTERSU10CA027469 · NCI · GYNECOLOGIC ONCOLOGY GROUP · PI DISAIA, PHILIP J. · 1985 to 2013
$132.6MClinical Genetic Studies of Familial and Hereditary Cancer SyndromesZIACP010144 · NCI · DIVISION OF CANCER EPIDEMIOLOGY AND GENETICS · PI SAVAGE, SHARON A. · 2009 to 2025
$111.8MTissue Culture Shared ResourceP30CA051008 · NCI · GEORGETOWN UNIVERSITY · PI Louis M Weiner · 1990 to 2026
$71.5MGYNECOLOGIC ONCOLOGY GROUP STATISTICAL OFFICEU10CA037517 · NCI · ROSWELL PARK CANCER INSTITUTE CORP · PI BLESSING, JOHN A · 1985 to 2013
$67.4MUCLA Clinical and Translational Science InstituteUL1TR000124 · NCATS · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI DUBINETT, STEVEN M. · 2012 to 2015
$57.0MThe Role of CHFR in Tumorigenesis and Paclitaxel-Sensitivity in Breast CancerP50CA116201 · NCI · MAYO CLINIC ROCHESTER · PI Fergus Joseph Couch · 2005 to 2026
$49.9MTransgenic & Gene-Targeting Shared ResourceP30CA168524 · NCI · UNIVERSITY OF KANSAS MEDICAL CENTER · PI ROY A. JENSEN · 2012 to 2026
$40.1MU Mass Boston / DFHCC U54 Partnership (1 of 2)U54CA156732 · NCI · DANA-FARBER CANCER INST · PI Nikhil Wagle · 2010 to 2026
$25.6MBreast Cancer Family Registry CohortUM1CA164920 · NCI · CANCER PREVENTION INSTIT OF CALIFORNIA · PI ANDRULIS, IRENE, BUYS, SAUNDRA S · 2012 to 2017
$12.7MCancer Research UK 10118Cancer Research UK 20861Cancer Research UK 23382NCATS NIH HHS UL1 TR000124NCI NIH HHS 5U54CA156732-07NCI NIH HHS N02 CP011019NCI NIH HHS N02 CP065504NCI NIH HHS P30 CA008748NCI NIH HHS P30 CA051008NCI NIH HHS P30 CA168524NCI NIH HHS P50 CA116201NCI NIH HHS P50 CA125183NCI NIH HHS R01 CA083855NCI NIH HHS R01 CA102776NCI NIH HHS R01 CA116167NCI NIH HHS R01 CA128978NCI NIH HHS R01 CA140323NCI NIH HHS R01 CA142996NCI NIH HHS R01 CA149429NCI NIH HHS R01 CA176785NCI NIH HHS R01 CA192393NCI NIH HHS R01 CA207365NCI NIH HHS R01 CA214545NCI NIH HHS R03 CA130065NCI NIH HHS R25 CA112486NCI NIH HHS R25CA112486NCI NIH HHS RC4 CA153828NCI NIH HHS RC4CA153828NCI NIH HHS U01 CA116167NCI NIH HHS U01 CA161032NCI NIH HHS U10 CA027469NCI NIH HHS U10 CA037517NCI NIH HHS U10 CA180822NCI NIH HHS U10 CA180868NCI NIH HHS U19 CA148065NCI NIH HHS U19 CA148112NCI NIH HHS U19 CA148537NCI NIH HHS U54 CA156732NCI NIH HHS UM1 CA164920
Abstract
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.
Indexed as
Genetic Predisposition to DiseaseGenetic VariationAllelesBlack PeopleBRCA1 ProteinBRCA2 ProteinFemaleGenetic Association StudiesHumansMutationPopulation SurveillanceBRCA1 ProteinBRCA1 protein, humanBRCA2 ProteinBRCA2 protein, humanAfrican ancestryBRCA1BRCA2mutationpathogenic sequence variant
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