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

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Academic year: 2020

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Table 1 Demographics of exome-sequenced adult BioMe Biobank participants and of individuals harboring expected pathogenicvariants in BRCA1/2
Table 2 Prevalence of expected pathogenic BRCA1/2 variants in the BioMe Biobank. We assessed the prevalence of BRCA1/2 variantsin all sequenced participants, in an unrelated subset of participants, across self-reported ancestry groups, and across genetic ancestrygroups for which there were greater than 400 individuals
Table 3 Founder variants identified among 112 BRCA1/2 expected pathogenic variants in the BioMe Biobank
Table 4 Clinical characteristics of BRCA1/2 variant-positive individuals. Evidence of HBOC-related cancers (breast, ovarian, prostate,pancreatic, and melanoma) and of clinical genetic testing among 218 BioMe Biobank participants harboring expected pathogenicBRCA1/2 variants

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