Ethnic Aspects of Hereditary Breast Cancer in the Region of Siberia

Чердынцева, Н. В.; Писарева, Л. Ф.; Ivanova, A.A.; Panferova, Ye; Malinovskaya, Elena; Одинцова, И. Н.; Дорошенко, А. В.; Gervas, Polina; Slonimskaya, Е. М.; Шивит-Оол, А. А.; Дворниченко, В. В.; Choinzonov, Ye L

doi:10.15690/vramn.v69i11-12.1186

Cited by 19 publications

(9 citation statements)

References 3 publications

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“…BRCA1 5382insC allele was not found in indigenous breast cancer patients, although 59 patients had signs of hereditary cancer. In the women from Slavic ethnic group, the BRCA1 185delAG, BRCA1 4153delAG and BRCA1 T300G mutations were detected in 9.1% of cases and were not found in the patients among the indigenous population [12]. Thus, our study results indicate the advisability of further studies to identify the genes responsible for the occurrence of hereditary breast cancer in the indigenous population.…”

Section: Conventional Chemotherapy and Ethnicitymentioning

confidence: 59%

The molecular aspects of personalized anticancer treatment

Чердынцева¹,

Litviakov²,

Ivanova³

et al. 2016

AIP Conference Proceedings

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Abstract. Only 25% of cancer patients, on average, benefit from therapy. Even in the cases of complete clinical response the tumor progression is an event of high level expectation. The main reasons for tumor progression are: intratumor heterogeneity resulted from clonal evolution, drug resistance, and tumor-promoting microenvironment. The reprogramming of microenvironmental stromal-inflammatory components is expected to allow tumor phenotype reversion. So, to find the new effective markers of tumor progression, drug response and targets for therapy, it could be promising to take into account the tumor-microenvironment heterogeneity and tumor clonal evolution.

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Section: Conventional Chemotherapy and Ethnicitymentioning

confidence: 59%

The molecular aspects of personalized anticancer treatment

Чердынцева¹,

Litviakov²,

Ivanova³

et al. 2016

AIP Conference Proceedings

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“…Наши данные о распространенности мутаций в BRCA1 среди когорты женщин с диагнозом РМЖ на территории Московского региона -3,45% -хорошо согласуются с аналогичными данными, полученными на территории Белгородского (3,2%), Сибирского (3,5%) регионов России, Гродненской области Республики Беларусь (3,8%) [21,25,32]. Несколько меньшие значения в Белгородской области получены, видимо, из-за меньшего спектра анализируемых мутаций.…”

Section: Discussionunclassified

Bayesian assessment of the prevalence of <i>BRCA</i>-associated breast cancer in Moscow

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2020

Alʹm. klin. med.

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Rationale: For many years, breast cancer has been leading in the cancer structure in women, accounting for 21% from the total number of newly diagnosed cases of malignancies in Russia. The literature on the prevalence of the BRCA-associated breast cancer is heterogeneous, which might be related to the specifics of the frequentist analysis. Aim: To assess the prevalence of BRCA-associated breast cancer and the probability of sporadic breast cancer in women of the Moscow region by Bayesian statistics. Materials and methods: The literature search in the E-library.ru database from January 2010 to March 2019 identified 13 original studies and 8 literature reviews with the data on hereditary breast cancer in the territories of the Russian Federation, Republic of Belarus and Ukraine. The assessment of the prevalence of BRCA gene mutation based on the Bayesian statistics and the full probability equation for incompatible events was performed on the data obtained in one study based on molecular genetic tests of 3826 female patients with breast cancer living in the Moscow Region, aged from 22 to 90 years (Russian Scientific Center of Roentgenoradiology). This was the most comprehensive study among those performed in Russia, covering almost all age ranges, with detailed description of the study design, diagnostic methods and the mutations spectrum analyzed. Results: The prevalence of BRCA1-associated breast cancer in Moscow among women is about 0.037%. The general population prevalence of the most frequent mutations of the BRCA1 gene (5382insC, 185delAG, 300T>G, 2080delA, 3819delGTAAA, 4153delA) in the female population in Moscow is about 0.05%, or about 0.1% from the total population. The probability of sporadic breast cancer in the female population of Moscow without any gene dominant mutations associated with breast cancer is about 1%. Conclusion: For the first time, the Bayesian statistics was used to analyze the prevalence of mutations in the BRCA1/2 genes in Russia. The results obtained are in good agreement with similar data for the Belgorod region and the Siberian region of Russian Federation, and the Grodno region of Belarus.

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“…Therefore, it is possible that identification of novel ethno-specific markers will decrease false-negative results of genetic risk assessment. There is a degree of variability in the frequency of HBOCS-associated nucleotide variants in the BRCA1 and BRCA2 genes of non-Caucasian populations ( 31 , 32 ). Indeed, one of the most common markers in European populations, BRCA1 5382insC, was not found in hereditary BC patients from several non-Slavic indigenous populations (Altaians, Buryats, and Tuvinians) in Russia ( 31 ).…”

Section: Discussionmentioning

confidence: 99%

“…There is a degree of variability in the frequency of HBOCS-associated nucleotide variants in the BRCA1 and BRCA2 genes of non-Caucasian populations ( 31 , 32 ). Indeed, one of the most common markers in European populations, BRCA1 5382insC, was not found in hereditary BC patients from several non-Slavic indigenous populations (Altaians, Buryats, and Tuvinians) in Russia ( 31 ). Our previously published data on germline BRCA1 and BRCA2 nucleotide variants in a small group of Tatar patients with BC indicated the same trend ( 8 ).…”

Section: Discussionmentioning

confidence: 99%

The Ethnic-Specific Spectrum of Germline Nucleotide Variants in DNA Damage Response and Repair Genes in Hereditary Breast and Ovarian Cancer Patients of Tatar Descent

et al. 2018

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The Russian population consists of more than 100 ethnic groups, presenting a unique opportunity for the identification of hereditary pathogenic mutations. To gain insight into the landscape of heredity pathogenic variants, we employed targeted next-generation sequencing to analyze the germline mutation load in the DNA damage response and repair genes of hereditary breast and ovary cancer syndrome (HBOCS) patients of Tatar ethnicity, which represents ~4% of the total Russian population. Several pathogenic mutations were identified in DNA double-strand break repair genes, and the spectrum of these markers in Tatar patients varied from that previously reported for patients of Slavic ancestry. The CDK12 gene encodes cyclin-dependent kinase 12, the key transcriptional regulator of the genes involved in DNA damage response and repair. CDK12 analysis in a cohort of HBOCS patients of Tatar decent identified a c.1047-2A>G nucleotide variant in the CDK12 gene in 8 of the 106 cases (7.6%). The c.1047-2A>G nucleotide variant was identified in 1 of the 93 (1.1%) HBOCS patients with mixed or unknown ethnicity and in 1 of the 238 (0.42%) healthy control patients of mixed ethnicity (Tatars and non-Tatars) (p = 0.0066, OR = 11.18, CI 95% = 1.53–492.95, Tatar and non-Tatar patients vs. healthy controls). In a group of mixed ethnicity patients from Tatarstan, with sporadic breast and/or ovarian cancer, this nucleotide variant was detected in 2 out of 93 (2.2%) cases. In a cohort of participants of Slavic descent from Moscow, comprising of 95 HBOCS patients, 80 patients with sporadic breast and/or ovarian cancer, and 372 healthy controls, this nucleotide variant was absent. Our study demonstrates a strong predisposition for the CDK12 c.1047-2A>G nucleotide variant in HBOCS in patients of Tatar ethnicity and identifies CDK12 as a novel gene involved in HBOCS susceptibility.

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Ethnic Aspects of Hereditary Breast Cancer in the Region of Siberia

Cited by 19 publications

References 3 publications

The molecular aspects of personalized anticancer treatment

The molecular aspects of personalized anticancer treatment

Bayesian assessment of the prevalence of <i>BRCA</i>-associated breast cancer in Moscow

The Ethnic-Specific Spectrum of Germline Nucleotide Variants in DNA Damage Response and Repair Genes in Hereditary Breast and Ovarian Cancer Patients of Tatar Descent

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