ArticleGenome medicine2019
Exome sequencing reveals a high prevalence of BRCA1 and BRCA2 founder variants in a diverse population-based biobank.
Article in Genome medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 72 papers, 2 of them syntheses that pooled it.
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Who cites it
72 citing papers in PubMed, 2 syntheses or guidelines pooled it, 112 citations in OpenAlex.
- Pooled it
- Clinical Characterization of Copy Number Variants Associated With Neurodevelopmental Disorders in a Large-scale Multiancestry Biobank.JAMA psychiatry · 2022Pooled it
- Clinical impact of ENIGMA-based variant reclassification on genotype-phenotype analyses in BRCA1- and BRCA2-associated hereditary breast and ovarian cancer.Breast cancer (Tokyo, Japan) · 2026Article
- Early-Onset Prostate Cancer: Epidemiology, Risk Factors, Biology, Clinical Features, Management, and Early Detection.MedComm · 2026Review
- When screentime fails: initiative to improve completion of hereditary cancer genetic testing after telemedicine counseling.Familial cancer · 2026Article
- Opportunistic Screening of High-Risk Breast Cancer Variants in Hospital Biobank Setting.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2026Article
- Navigating the healthcare system with aGynecologic oncology reports · 2026Article
- Precision Medicine in Rural Settings: Patient Perspectives on Clinician-Ordered Genetic Testing.Research square · 2026Article
- Further Personalizing Medicine in Immune Disorders: Genomic Findings and Hematopoietic Cell Transplantation Survival.Transplantation · 2026Article
- Clinical Manifestations of VEXAS Syndrome Across a Broad Spectrum of UBA1 Mutation Burden.Arthritis & rheumatology (Hoboken, N.J.) · 2026Article
- CLINICAL AND COGNITIVE PHENOTYPING OF COPY NUMBER VARIANTS ASSOCIATED WITH NEURODEVELOPMENTAL DISORDERS FROM A MULTI-ANCESTRY BIOBANK.medRxiv : the preprint server for health sciences · 2025Article
- Review
- Prostate cancer and genetic contributions.Andrology · 2025Review
- LILRB3 genetic variation is associated with kidney transplant failure in African American recipients.Nature medicine · 2025Article
- Evolving knowledge of red flag clinical features associated with TTR p.(Val142Ile) in a diverse electronic health-record-linked biobank.Genetics in medicine : official journal of the American College of Medical Genetics · 2025Article
- Distinguishing clinical and genetic risk factors for suicidal ideation and behavior in a diverse hospital population.Translational psychiatry · 2025Article
- Assessing completeness of cancer family history in EHRs using genetically defined kinships: A cross-sectional study.Genetics in medicine open · 2025Article
- Women's preferences for genetic screening in routine care: A qualitative study.Patient education and counseling · 2025Article
- Elective genomic screening: results of the implementation of a whole genome sequencing program at a medical check-up unit in Spain.Frontiers in genetics · 2025Article
- Two founder variants account for over 90% of pathogenic BRCA alleles in the Orkney and Shetland Isles in Scotland.European journal of human genetics : EJHG · 2024Article
12 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
14 authors at 2 institutions in 1 country.
Funding
Abstract
backgroundPathogenic variants in BRCA1 and BRCA2 (BRCA1/2) lead to increased risk of breast, ovarian, and other cancers, but most variant-positive individuals in the general population are unaware of their risk, and little is known about prevalence in non-European populations. We investigated BRCA1/2 prevalence and impact in the electronic health record (EHR)-linked BioMe Biobank in New York City.
methodsExome sequence data from 30,223 adult BioMe participants were evaluated for pathogenic variants in BRCA1/2. Prevalence estimates were made in population groups defined by genetic ancestry and self-report. EHR data were used to evaluate clinical characteristics of variant-positive individuals.
resultsThere were 218 (0.7%) individuals harboring expected pathogenic variants, resulting in an overall prevalence of 1 in 139. The highest prevalence was in individuals with Ashkenazi Jewish (AJ; 1 in 49), Filipino and other Southeast Asian (1 in 81), and non-AJ European (1 in 103) ancestry. Among 218 variant-positive individuals, 112 (51.4%) harbored known founder variants: 80 had AJ founder variants (BRCA1 c.5266dupC and c.68_69delAG, and BRCA2 c.5946delT), 8 had a Puerto Rican founder variant (BRCA2 c.3922G>T), and 24 had one of 19 other founder variants. Non-European populations were more likely to harbor BRCA1/2 variants that were not classified in ClinVar or that had uncertain or conflicting evidence for pathogenicity (uncertain/conflicting). Within mixed ancestry populations, such as Hispanic/Latinos with genetic ancestry from Africa, Europe, and the Americas, there was a strong correlation between the proportion of African genetic ancestry and the likelihood of harboring an uncertain/conflicting variant. Approximately 28% of variant-positive individuals had a personal history, and 45% had a personal or family history of BRCA1/2-associated cancers. Approximately 27% of variant-positive individuals had prior clinical genetic testing for BRCA1/2. However, individuals with AJ founder variants were twice as likely to have had a clinical test (39%) than those with other pathogenic variants (20%).
conclusionsThese findings deepen our knowledge about BRCA1/2 variants and associated cancer risk in diverse populations, indicate a gap in knowledge about potential cancer-related variants in non-European populations, and suggest that genomic screening in diverse patient populations may be an effective tool to identify at-risk individuals.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.