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

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

JCO precision oncology（2023）

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摘要

DTC genetic testing misses >90% of PLPV in individuals of non-AJ ancestry and about 10% of PLPV among AJ individuals. There is a high false-positivity rate for non-AJ PLPV with DTC genetic testing.

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