The Gene Germline Heterozygous Pathogenic Variants in Russian Patients with Malignant Neoplasms and Healthy Carriers: 11,800 WGS Results.

More than 275 million people in the world are carriers of a heterozygous mutation of the gene, associated with cystic fibrosis, the most common autosomal recessive disease among Caucasians. Some recent studies assessed the association between carriers of variants and some pathologies, including cancer risk. The aim of this study is to analyze the landscape of germline pathogenic heterozygous variants in patients with diagnosed malignant neoplasms.