Rare mutations in the BRCA1 and BRCA2 genes in breast cancer Russian patients
Abstract
The overwhelming majority of cases of hereditary breast cancer are associated with mutations in the BRCA1 and BRCA2 genes. The search for only the BRCA1/2 founder mutations in the Russian population may lead to a number of false-negative results due to the presence of rare genetic damage in these genes. The aim of this study was to search for rare BRCA1 and BRCA2 mutations associated with risk of breast cancer. For this study using neхt-generation sequencing (NGS), a group of 193 breast cancer patients was formed. Results of this research showed that the range of pathogenic variants in BRCA1/2 associated with risk of breast cancer is characterized by a big variety and not limited only to mutations, widespread in the Russian population. As a result of the study, 22 rare heterozygous pathogenic mutations were found in 27 breast cancer patients (14%). Variants with unknown clinical significance in BRCA1/2 , which could be one of the causes of the breast cancer disease, were found in 6 patients. On the basis of our obtained data on rare mutations frequency (14%) and also founder mutations frequency in the group of patients with clinical signs of a hereditary disease in the Russian population (17,6%) it is possible to say with confidence that about 32% breast cancer cases in the group of patients with clinical signs of a hereditary disease were associated with BRCA1/2 mutations.
About the Authors
E. I. Novikova
Russian Scientific Center of Roentgenoradiology of Russia
Russian Federation
Russian Federation
G. P. Snigiriova
Russian Scientific Center of Roentgenoradiology of Russia
Russian Federation
Russian Federation
V. A. Solodkiy
Russian Scientific Center of Roentgenoradiology of Russia
Russian Federation
Russian Federation
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Review
For citations:
Novikova E.I., Snigiriova G.P., Solodkiy V.A. Rare mutations in the BRCA1 and BRCA2 genes in breast cancer Russian patients. Medical Genetics. 2017;16(9):25-30. (In Russ.)
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