Role of detection of mutations in the <i>BRСA1,2</i>, <i>CHEK2</i>, <i>PALB2</i> genes in diagnosis of oncological diseases and determination of the therapy strategy

Abstract

Breast cancer (BC) is the most common malignant neoplasm in women in the Russian Federation. Today, biological markers that characterize the individual characteristics of the tumor, such as the tendency to metastasize, hormonal sensitivity, are of great importance for the diagnosis and treatment of patients with breast cancer. Among the genes associated with hereditary breast cancer, there are genes with high penetrance (BRCA1, BRCA2, MLH1, MSH2, STK11, PTEN, TP53 and APC) and genes with moderate penetrance (CHEK2, ATM and PALB2). All of the listed above genes are responsible for DNA repair by homologous recombination, and they represent a group of HRR genes (homologous recombination-related genes). Mutations in the BRCA1 and BRCA2 genes can also initiate cancer of the ovaries, pancreas, and prostate. Understanding of the molecular and genetic nature of an oncological disease allows applying targeted drugs to therapy of a disease.

Keywords

• breast cancer
• ovarian cancer
• prostate cancer
• pancreatic cancer
• brca1,2
• chek2
• palb2