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Re-evaluating cancer risks associated with the CHEK2 p.Ser428Phe Ashkenazi Jewish founder pathogenic variant.

Familial cancer - 1 Jul 2022

Laitman Yael, Nielsen Sarah M, Hatchell Kathryn E, Truty Rebecca, Bernstein-Molho Rinat, Esplin Edward D, Friedman Eitan

Abstract excerpt

A missense variant (p.Ser428Phe [S428F]) in the CHEK2 gene is reportedly associated with a 2-3 fold increase in breast cancer risk in Ashkenazi Jews. This study aimed to re-evaluate cancer risks conferred by the CHEK2 S428F variant in Ashkenazi Jews. De-identified data from CHEK2 S428F variant carriers sequenced with multigene panels were analyzed. Overall, 486/341,531 (0.14%) cases of all ethnicities diagnosed...

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PMID: 34622392
DOI: 10.1007/s10689-021-00278-6

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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