%0 Case Reports
%T A case report of biallelic CHEK2 heterozygous variant presenting with breast cancer.
%A Soleimani T
%A Bourdon C
%A Davis J
%A Fortes T
%J Clin Case Rep
%V 11
%N 1
%D Jan 2023
%M 36644613
暂无%R 10.1002/ccr3.6820
%X 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.