A case report of biallelic CHEK2 heterozygous variant presenting with breast cancer

Abstract

Abstract Pathogenic germline variants in the CHEK2 gene have been shown to cause a moderate increased risk of breast cancer. Here, we present a striking CHEK2 family with a biallelic carrier of two frameshift pathogenic variants, to draw attention and to encourage a comprehensive genetic and cancer risk education for biallelic carriers of CHEK2 pathogenic variants.

Keywords

• biallelic
• breast cancer
• checkpoint kinase 2
• CHEK2
• familial
• genetic