Germinal Mutations in Homologous Recombination Genes in a Population of Patients With Pancreatic Cancer: A Single Centre Experience

Abstract

Objective.To estimate the frequency of germline mutations in homologous recombination genes in a population of patients with pancreatic cancer and to assess the possibility to predict the risk of mutation carriage based on the clinical and anamnestic data.Materials and methods.The study included patients diagnosed with pancreatic cancer, blood samples of which were taken to detect clinically significant germline mutations in the BRCA1, BRCA2, CHEK2, BLM, NBS1, and PALB2 genes. Clinical data and family history data were collected for each patient.Results.The study included 99 patients. Mutations in BRCA1 gene were detected in 4 % of cases, in CHEK2 gene – in 2 %. No mutations were detected in the BRCA2, as in BLM, NBS1, and PALB2 genes. Localization of primary tumor, presence of distant metastases, stage of disease, family history of malignant neoplasms did not correlate with the risk of BRCA1 mutation (p>0.05). The patient’s eligibility for NCCN criteria for BRCA1 gene mutation diagnosis proved to be a significant marker of germline mutation presence (p=0.043).Conclusions.NCCN criteria for genetic testing are the best predictor of BRCA1 germline mutation in patients with pancreatic cancer.