Article
CHEK2 Founder Variants and Thyroid Cancer Risk.
Thyroid : official journal of the American Thyroid Association - 1 Apr 2024
Brock Pamela, Liynarachchi Sandya, Nieminen Taina T, Chan Carlos, Kohlmann Wendy, Stout Leigh Anne, Yao Song, La Greca Amanda, Jensen Kirk E, Kolesar Jill M, Salhia Bodour, Gulhati Pat, Hicks J Kevin, Ringel Matthew D
Abstract excerpt
Background: Germline pathogenic variants in CHEK2 are associated with a moderate increase in the lifetime risk for breast cancer. Increased risk for other cancers, including non-medullary thyroid cancer (NMTC), has also been suggested. To date, data implicating CHEK2 variants in NMTC predisposition primarily derive from studies within Poland, driven by a splice site variant (c.444 + 1G>A) that is uncommon in...
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