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Article

Exome sequencing reveals a high prevalence of BRCA1 and BRCA2 founder variants in a diverse population-based biobank.

Genome medicine - 31 Dec 2019

Abul-Husn Noura S, Soper Emily R, Odgis Jacqueline A, Cullina Sinead, Bobo Dean, Moscati Arden, Rodriguez Jessica E, Loos Ruth J F, Cho Judy H, Belbin Gillian M, Suckiel Sabrina A, Kenny Eimear E

Abstract excerpt

BACKGROUND: Pathogenic 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. METHODS:...

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Identifiers

PMID: 31892343
DOI: 10.1186/s13073-019-0691-1
PMCID: PMC6938627

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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