Abstract

The article describes a clinical case of colorectal cancer with a positive family history. In the course of a molecular genetic study by NGS sequencing, a germinal c.1607delC mutation was detected in exon 15 of the CHEK2 gene (NM_007194.4). According to ClinVar, this option has uncertain clinical significance. The article provides literature data on cases of carriage of CHEK2 gene mutations. More careful monitoring of carriers of pathogenic variants in the CHEK2 gene from families with multiple manifestations of colorectal cancer is now recommended.

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