METHOD FOR MOLECULAR-GENETIC DIAGNOSIS OF HEREDITARY BREAST CANCER

摘要

FIELD: medicine.;SUBSTANCE: invention relates to medicine. What is presented is a method for molecular genetic diagnosis of hereditary breast cancer. Isolated DNA is tested for 5382insC mutation in the BRCA1 gene by real-time allele-specific PCR. In case of positive result, this mutation is searched for among blood relatives of the patient. If 5382insC mutation is absent, the patient's whole coding part of BRCA1/2 genes with adjoining sections of introns and regulatory regions is analyzed by a new generation sequencing method. If pathogenic mutations are absent, no mutations in BRCA1/2 genes are observed in the patient. If a pathogenic mutation is found, the patient is diagnosed with a genetic predisposition to breast cancer and similar mutations are sought for in blood relatives. If pathogen mutation is absent, blood relatives conclude that they do not have mutations in BRCA1/2 genes.;EFFECT: invention provides higher diagnostic efficiency.;3 cl, 1 dwg, 2 tbl, 2 ex