Genetic evaluation of the patients with colorectal cancer: rare variations and their role in the family follow-up program

• Igor O. Islanov
• Petrenko К.N.
• Levchenko E.N.
• Elena V. Zaklyazminskaya
• Arkady L. Bedzhanyan

Abstract

According to WHO, colorectal cancer (CRC) is the third most common cancer worldwide and is the second leading cause of cancer-related deaths worldwide. Approximately 75% of patients with diagnosed CRC have sporadic disease without concrete evidence of inheritance. Only 2–6% of all cases of CRC are caused by mutations in well-studied CRC-associated genes. But there are known cases of CRC in patients who are carriers of high-risk alleles in other oncogenes. Course, prognosis and effectiveness of treatment is not entirely dependent on genetic predisposition but also genetic and molecular characteristics of the tumor. Collective data of both germline and somatic genomes are the essentials in development of a comprehensive program of treatment, follow-up and family screening. In this work we present first germline and somatic whole exome sequencing (WES) results of the pilot study on a group of 20 patients operated of colorectal cancer. Two families with identified carriers of high-risk alleles in BRCA1 or CHEK2 plus BRIP1 genes respectively were used as an example of a new strategy for dynamic observation.

Keywords:colorectal cancer; metastatic colorectal cancer; hereditary cancer syndromes; CRC; mCRC; BRCA1/2; BRAF; CHEK2; BRIP1; whole exome sequencing (WES)

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