A novel CHEK2 variant identified by next generation sequencing in an Indian family with hereditary breast cancer syndrome (original) (raw)

Genetic variations in CHEK2 (checkpoint kinase 2) gene have been associated with hereditary predisposition to various cancers including breast and ovarian cancer. CHEK2 tumor suppressor gene encodes for a checkpoint kinase that responds to breaks in DNA, regulates DNA repair and cellular proliferation. We report a BRCA negative family with multiple affected women having breast cancer, with a novel, missense, likely pathogenic variant in the CHEK2 gene (c.1376T > G; p.Ile459Ser) that segregated with subjects with breast cancer. This case provides insight into the role of the CHEK2 gene in causing breast cancer susceptibility in families and supports the use of multigene panel testing in cases with hereditary predisposition to breast cancer.