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Attitudes and interest in incorporating BRCA1/2 cancer susceptibility testing into reproductive carrier screening for Ashkenazi Jewish men and women.


ABSTRACT: Pathogenic variants in the BRCA1 and BRCA2 (BRCA1/2) genes are associated with elevated cancer risks in men and women. Due to a founder effect, Ashkenazi Jewish individuals are at higher risk for carrying three specific BRCA1/2 pathogenic variants. There have been recent calls for population screening in this population because many carriers do not have family histories suggestive of hereditary cancer. One approach could be to integrate optional BRCA1/2 testing into routinely offered reproductive carrier screening for recessive and X-linked disorders. However, the differing goals of these types of testing (i.e., personal health risks versus family planning) raise questions about the implications for patient education and informed consent. To this end, we aimed to determine interest, attitu

SUBMITTER: Hardy MW 

PROVIDER: S-EPMC9051789 | biostudies-literature | 2022 Jun

REPOSITORIES: biostudies-literature