PDF(Pubmed)
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.
摘要：
CHEK2基因中的致病性种系变体已被证明会导致乳腺癌的风险适度增加。这里,我们提出了一个引人注目的CHEK2家族，具有两个移码致病变体的双等位基因载体，引起注意，并鼓励对CHEK2致病变异的双等位基因携带者进行全面的遗传和癌症风险教育。
