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

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.

Source: Cancer Genetics and Cytogenetics - May 30, 2019 Category: Genetics & Stem Cells Authors: Dr. Pratibha Sharma Bhai, Dr. Renu Saxena, Samarth Kulshrestha, Dr. Ishwar Chander Verma Tags: Case Report Source Type: research