Article

Exome Sequencing Reveals a High Prevalence of <i>BRCA1</i> and <i>BRCA2</i> Founder Variants in a Diverse Population-Based Biobank

2019-10-13

Abstract excerpt

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 the prevalence of pathogenic BRCA1/2 variants in non-European populations. We investigated BRCA1/2 prevalence and impact using exome sequencing and electronic health record (EHR) dat...

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Literature Corpus work: 2310f3ed-695e-5372-b39c-aba014d02ad6
DOI: 10.1101/802348

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