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

Clin Case Rep. 2023 Jan 11;11(1):e6820. doi: 10.1002/ccr3.6820. eCollection 2023 Jan.


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: CHEK2; biallelic; breast cancer; checkpoint kinase 2; familial; genetic; heterozygous.

Publication types

  • Case Reports