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Article

Retrospective Cohort Study on the Limitations of Direct-to-Consumer Genetic Screening in Hereditary Breast and Ovarian Cancer.

JCO precision oncology - 1 Aug 2023

Desai Neelam V, Barrows Elizabeth D, Nielsen Sarah M, Hatchell Kathryn E, Anderson Michael J, Haverfield Eden V, Herrera Blanca, Esplin Edward D, Lucassen Anneke, Tung Nadine M, Isaacs Claudine

Abstract excerpt

PURPOSE: Among cancer predisposition genes, most direct-to-consumer (DTC) genetic tests evaluate three Ashkenazi Jewish (AJ) founder mutations in BRCA1/2, which represent a small proportion of pathogenic or likely pathogenic variants (PLPV) in cancer predisposing genes. In this study, we investigate PLPV in BRCA1/2 and other cancer predisposition genes that are missed by testing only AJ founder BRCA1/2 mutations....

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Identifiers

PMID: 37535880
DOI: 10.1200/PO.22.00695
PMCID: PMC10581610

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