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Evaluating the role of CHEK2 p.(Asp438Tyr) allele in inherited breast cancer predisposition.

Familial cancer - 1 Jul 2023

Kumpula Timo A, Koivuluoma Susanna, Soikkonen Leila, Vorimo Sandra, Moilanen Jukka, Winqvist Robert, Mantere Tuomo, Kuismin Outi, Pylkäs Katri

Abstract excerpt

CHEK2 is a well-established breast cancer susceptibility gene. The most frequent pathogenic CHEK2 variant is 1100delC, a loss-of-function mutation conferring 2-fold risk for breast cancer. This gene also harbors other rare variants encountered in the clinical gene panels for hereditary cancer. One of these is CHEK2 c.1312 G > T, p.(Asp438Tyr) in the kinase domain of the protein, but due to its rarity its clinical...

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PMID: 36653541
DOI: 10.1007/s10689-023-00327-2
PMCID: PMC10276058

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