Variety Mutations in the Genes of Hereditary Tumor Syndromes in Pancreatic Cancer

Pancreatic cancer (PC) is one of the most aggressive malignant neoplasms. Next-generation sequencing (NGS) was performed in 223 patients from Nizhny Novgorod with morphologically verified pancreatic cancer (PC) treated at the Oncological Dispensary of the Nizhny Novgorod Region in 2021-2022. The patients were conditionally divided into two subgroups: The first subgroup (184 patients) underwent PCR testing at the Nizhny Novgorod Regional Oncology Dispensary and then next-generation sequencing (NGS) of the coding regions of the BRCA1/2 genes at the National Medical Research Centre of Radiology of the Ministry of Health of the Russian Federation. The second subgroup (39 patients) underwent NGS of the coding regions of cancer-associated genes at the Centre for Personalised Medicine of the Moscow Clinical Scientific and Practical Centre named after A.S. Loginov. Germline mutations in the BRCA1/2 genes were detected in 6 patients with pancreatic cancer (3.3 ± 1.3%), including one case in the BRCA1 gene and 5 in the BRCA2 gene. Various pathogenic mutations in genes (ATM, FANCC, POLE, NBN, BLM, SMARCA4, MUTYH, FANCG) associated with different oncological syndromes were found in 9 patients (23.1 ± 1.2%). The high prevalence rates of different pathogenic variants in PC patients, regardless of age and family history of oncology, indicate the need for medical genetic counselling followed by NGS. The detection of germline mutations in genes of hereditary tumour syndromes in PC patients will help to identify high-risk groups for tumor development in relatives and enable early diagnosis.