Germline mutations in the PALB2 and CHEK2 genes and hereditary cancer

Introduction. At least 3% of all cancer cases are associated with hereditary changes in genes predisposing to malignant neoplasms. In addition the widely known BRCA1,2 genes, other involved equally DNA repair system and maintenance genome integrity, such as PALB2, CHEK2, being introduced into routine diagnosis. this review we present current information from recent studies on structure function PALB2 CHEK2 diagnosis mutations these well their clinical significance. The purpose work was update systematize data order better understand significance carcinogenesis, risks neoplasms, prevention treatment tactics for mutation carriers. Materials methods. PubMed, Google Scholar, Cyberleninka databases were searched. criteria inclusion articles novelty relevance data, compliance topic review. Based this, 79 literary sources selected. Results discussion. Mutations gene common 0.5 2.1 % an increased risk breast (52.8 by age 80), ovarian (5 %), pancreatic (2.8 %). frequency reaches 5 is a (up 40 80) colorectal cancer. Numerous have shown that prostate, lung, kidney, melanoma cancers. Conclusion. A understanding spectrum genetic predisposition identification genespecific could lead improved screening, prevention, therapeutic strategies patients families.