The study enrolled women with breast cancer from the regional oncology dispensary with histologically verified diagnosi

Appusamy, T.

Aristova, I.

Dolzhikov, A.

Jaiswal, A.

Leitanthem, W.

Polonikov, A.

English

DSpace at Belgorod State University

6th Singapore Health & Biomedical Congress 2015PP-BSTR-12Prevalence of BRCA1 and BRCA2 Mutations in Breast Cancer Patients in RussiaA POLONIKOV1, I ARISTOVA2, W LEITANTHEM2, T APPUSAMY2, A JAISWAL2, A DOLZHIKOV2, N PAVLOVA2, O LUGOVAYA3, M CHURNOSOV2[Kursk State Medical University, Russia, 2Belgorod State University, RussiaBackground & Hypothesis:Breast cancer (BRCA) is the most common neoplastic disease in women. Being mostly sporadic, about 5-10% of cases are genetically determined. Women with inherited mutation in the BRCA genes have a significant increase in risk of breast cancer and certain other cancers. 5382insC, 185delAG, 4153delA in BRCA1 and 6174delT in BRCA2 genes are the most known mutations in these tumour suppressor genes.Methods:The study enrolled 217 women (mean age 54.2 ± 7.5 years) with breast cancer from the regional oncology dispensary with histologically verified diagnosis and 160 healthy women (mean age 54.4 ± 11.0 years) as a control group. After extraction of DNA from peripheral blood using phenol- chloroform method, all samples were genotyped for BRCA1 and BRCA2 polymorphisms by real-time PCR using TaqMan technology for allele discrimination.Results:The analysis of the frequency BRCA1/2 mutations showed that among 217 patients with breast cancer, 7 women had BRCA1 5382insC variant (3.2%) and no one had 185delAG, 4153delA in BRCA1 and 6174delT mutations in BRCA2. Screenings for these mutations in 160 healthy women showed the homozygosity status.Discussion & Conclusion:Compared with some other published papers, this one confirms frequent occurrence of BRCA1 5382insC variant in geographically distant regions of Russia, such as Moscow (3.5%), St Petersburg (4.0%), and Siberia region (1.92%). The presented data point to a conspicuous contribution of BRCA1 5382insC mutation in breast cancer development in Belgorod region of Russia that may justify an extended BRCA1 5382insC screening among women of our population.S324 Annals Academy of Medicine October 2015, Vol. 44 (Suppl) No. 10

Prevalence of BRCA1 and BRCA2 mutations in breast cancer patients in Russia

http://dspace.bsu.edu.ru/bitstream/123456789/28288/1/Aristova_Prevalence.pdf

Prevalence of BRCA1 and BRCA2 mutations in breast cancer patients in Russia

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