Genetic evaluation of the patients with colorectal cancer: rare variations and their role in the family follow-up program
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)
Funding. The work was carried out within the framework of state funding for
research work “Application of circulating tumor DNA in evaluation of surgical
and drug treatment effectiveness in patients with colorectal cancer”
(0394-2021-0011).
Conflict of
interest. The authors declare no conflict of interest.
For citation: Islanov I.O., Petrenko К.N., Levchenko E.N., Zaklyazminskaya E.V.,
Bedjanyan A.L. Genetic evaluation of the patients with colorectal cancer: rare
variations and their role in the family follow-up program. Clinical and
Experimental Surgery. Petrovsky Journal. 2023; 11 (4): 39–47. DOI: https://doi.org/10.33029/2308-1198-2023-11-4-39-47
(in Russian)
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