Frequency of pathogenic variants in BRCA1 and BRCA2 genes in a population-based sample and in patients with breast or ovarian cancer
Abstract
Progress in genetics and molecular research enabled discovery of mutations in BRCA1 and BRCA2, leading to the development of hereditary breast (BC) and ovarian (OC) cancer. Genetic testing contributes to early diagnosis and targeted prevention of these cancers. Objective: To investigate the prevalence of pathogenic variants in BRCA1 and BRCA2 genes in patients with BC/OC and in a population-based sample without oncological diseases. Methods: 156 patients with diagnosed BC/OC were included in the study consecutively. In addition to it, 359 women from a population-based sample ESSE-Vologda were recruited in the study. Variants of BRCA1 and BRCA2 were detected using a custom panel. Results: Among cancer patients there were 5 carriers (3.21%) of mutations in BRCA1 (4 - rs80357906, 2.56%; 1 - rs80357711, 0.64%) and 1 carrier (0.64%) of rs80359550 in BRCA2. In a population-based sample no mutations were identified. The presence of BRCA1 (rs80357906, rs80357711) or BRCA2 (rs80359550) variants increases the risk of BC/OC at least 2.63 times (р=0.0009). Conclusion: Detection of pathogenic variants in BRCA1 and BRCA2 could facilitate early diagnosis and timely prevention of BC and OC.
About the Authors
A. S. Limonova
National Medical Research Center for Therapy and Preventive Medicine of the Ministry of Health of Russia
Russian Federation
Russian Federation
A. N. Meshkov
National Medical Research Center for Therapy and Preventive Medicine of the Ministry of Health of Russia
Russian Federation
Russian Federation
A. I. Ershova
National Medical Research Center for Therapy and Preventive Medicine of the Ministry of Health of Russia
Russian Federation
Russian Federation
A. V. Kiseleva
National Medical Research Center for Therapy and Preventive Medicine of the Ministry of Health of Russia
Russian Federation
Russian Federation
O. P. Skirko
National Medical Research Center for Therapy and Preventive Medicine of the Ministry of Health of Russia
Russian Federation
Russian Federation
M. V. Klimushina
National Medical Research Center for Therapy and Preventive Medicine of the Ministry of Health of Russia
Russian Federation
Russian Federation
E. A. Sotnikova
National Medical Research Center for Therapy and Preventive Medicine of the Ministry of Health of Russia
Russian Federation
Russian Federation
O. V. Kurilova
National Medical Research Center for Therapy and Preventive Medicine of the Ministry of Health of Russia
Russian Federation
Russian Federation
I. A. Efimova
National Medical Research Center for Therapy and Preventive Medicine of the Ministry of Health of Russia
Russian Federation
Russian Federation
L. N. Lyubchenko
N.N. Blokhin Cancer Research Center of the Ministry of Health of Russia
Russian Federation
Russian Federation
M. G. Filippova
N.N. Blokhin Cancer Research Center of the Ministry of Health of Russia
Russian Federation
Russian Federation
A. A. Poloznikov
P. A. Hertsen MORC - branch of FSBI NMRRC of the Ministry of Health of Russia
Russian Federation
Russian Federation
V. A. Kutsenko
National Medical Research Center for Therapy and Preventive Medicine of the Ministry of Health of Russia
Russian Federation
Russian Federation
M. S. Pokrovskaya
National Medical Research Center for Therapy and Preventive Medicine of the Ministry of Health of Russia
Russian Federation
Russian Federation
O. M. Drapkina
National Medical Research Center for Therapy and Preventive Medicine of the Ministry of Health of Russia
Russian Federation
Russian Federation
Review
For citations:
Limonova A.S., Meshkov A.N., Ershova A.I., Kiseleva A.V., Skirko O.P., Klimushina M.V., Sotnikova E.A., Kurilova O.V., Efimova I.A., Lyubchenko L.N., Filippova M.G., Poloznikov A.A., Kutsenko V.A., Pokrovskaya M.S., Drapkina O.M. Frequency of pathogenic variants in BRCA1 and BRCA2 genes in a population-based sample and in patients with breast or ovarian cancer. Medical Genetics. 2020;19(6):26-28. (In Russ.)
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