{Reference Type}: Case Reports
{Title}: A case report of biallelic CHEK2 heterozygous variant presenting with breast cancer.
{Author}: Soleimani T;Bourdon C;Davis J;Fortes T;
{Journal}: Clin Case Rep
{Volume}: 11
{Issue}: 1
{Year}: Jan 2023
暂无{DOI}: 10.1002/ccr3.6820
{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.