Analysis of BRCA1 and BRCA2 genes mutations in breast cancer patients in an experiment

Aim. To assess the presence of mutations based on the analysis of the prevalence of polymorphisms in the BRCA1 and BRCA2 genes in patients admitted to the Republican clinical Oncology dispensary of the Ministry of Health of the Republic of Bashkortostan with breast cancer. Methods. 137 patients with breast cancer aged 25 to 80 years underwent molecular genetic testing to detect BRCA1 and BRCA2 mutations by using allele-specific real-time polymerase chain reaction. Venous blood from 105 healthy donors was used as a control group. Results. The study of genetic modifiers of cancer risk for BRCA1 and BRCA2 mutation carriers revealed mutations in the genes BRCA1 185delAG, 4153delA, 5382insC, T300G and BRCA2-6174 del T, which help identify genetic susceptibility to breast cancer (NSCLC). The most common form of genetic variation in patients with breast cancer was 5382insC mutation in BRCA1 gene, which was 14.59% of the total number of examined patients and 90% of the total number of positive results. BRCA1 and BRCA2 genes mutations lead to producing truncated protein, which cannot properly perform its functions and ensure DNA cell stability. Conclusion. Considering high breast cancer risk in BRCA1 and BRCA2 genes mutations carriers, our results show the advisability of including screening for 5382insC, 4153delA and T300G mutations in the BRCA1 gene to the screening programs for determining the risk of breast cancer.

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Risk models for breast cancer

Proceedings of the National Academy of Sciences of Belarus Medical series ◽

10.29235/1814-6023-2018-15-4-503-510 ◽

2019 ◽

Vol 15 (4) ◽

pp. 503-510

Author(s):

T. V. Pyatchanina ◽

A. N. Ohorodnyk

Keyword(s):

Breast Cancer ◽

Prognostic Factors ◽

Family History ◽

Breast Cancer Risk ◽

Cancer Risk ◽

Scientific Evidence ◽

Breast Cancer Patients ◽

Brca1 And Brca2 ◽

Risk Models ◽

Brca1 And Brca2 Genes

Scientific evidence indicates the stabilization of indicators of morbidity and mortality from breast cancer in women in Ukraine and the existence of a number of models for predicting the breast cancer risk with the consideration of life style factors, detectable mutations of BRCA1 and BRCA2 genes, family history, as well as predicative and prognostic factors (clinical, molecular-biological) to determine the possible ways of the tumor process and the survival of breast cancer patients.

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Contralateral breast cancer risk in BRCA1 and BRCA2 mutation carriers in a large cohort of unselected Chinese breast cancer patients

International Journal of Cancer ◽

10.1002/ijc.32918 ◽

2020 ◽

Vol 146 (12) ◽

pp. 3335-3342

Author(s):

Liming Su ◽

Ye Xu ◽

Tao Ouyang ◽

Jinfeng Li ◽

Tianfeng Wang ◽

...

Keyword(s):

Breast Cancer ◽

Breast Cancer Risk ◽

Cancer Risk ◽

Cancer Patients ◽

Contralateral Breast Cancer ◽

Brca2 Mutation ◽

Contralateral Breast ◽

Large Cohort ◽

Breast Cancer Patients ◽

Brca1 And Brca2

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The frequency and outcome of breast cancer risk-reducing surgery in finnish BRCA1 and BRCA2 mutation carriers

Scandinavian Journal of Surgery ◽

10.1177/1457496913490460 ◽

2013 ◽

Vol 103 (1) ◽

pp. 34-40 ◽

Cited By ~ 5

Author(s):

L. Koskenvuo ◽

C. Svarvar ◽

S. Suominen ◽

K. Aittomäki ◽

T. Jahkola

Keyword(s):

Breast Cancer ◽

Breast Cancer Risk ◽

Cancer Risk ◽

Brca2 Mutation ◽

Brca1 And Brca2 ◽

Mutation Carriers ◽

Risk Reducing

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BRCA1 AND BRCA2 MUTATION DETECTION IN A SELECTED SERIES OF BREAST CANCER PATIENTS

European Journal of Cancer Prevention ◽

10.1097/00008469-199612002-00016 ◽

1996 ◽

Vol 5 ◽

pp. 101

Author(s):

ALEX M. GARVIN ◽

MICHELLE HANER ◽

HANSJAKOB MULLER ◽

WALTER WEBER ◽

JOACHIM TORHORST ◽

...

Keyword(s):

Breast Cancer ◽

Cancer Patients ◽

Mutation Detection ◽

Brca2 Mutation ◽

Breast Cancer Patients ◽

Brca1 And Brca2

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Breast Cancer Risk for Noncarriers of Family-Specific BRCA1 and BRCA2 Mutations: Findings From the Breast Cancer Family Registry

Journal of Clinical Oncology ◽

10.1200/jco.2010.34.4440 ◽

2011 ◽

Vol 29 (34) ◽

pp. 4505-4509 ◽

Cited By ~ 32

Author(s):

Allison W. Kurian ◽

Gail D. Gong ◽

Esther M. John ◽

David A. Johnston ◽

Anna Felberg ◽

...

Keyword(s):

Breast Cancer ◽

Breast Cancer Risk ◽

Cancer Risk ◽

Brca2 Mutation ◽

Population Based ◽

Brca1 And Brca2 ◽

Breast Cancer Family ◽

Cancer Family ◽

Brca2 Mutations ◽

Brca1 And Brca2 Mutations

Purpose Women with germline BRCA1 and BRCA2 mutations have five- to 20-fold increased risks of developing breast and ovarian cancer. A recent study claimed that women testing negative for their family-specific BRCA1 or BRCA2 mutation (noncarriers) have a five-fold increased risk of breast cancer. We estimated breast cancer risks for noncarriers by using a population-based sample of patients with breast cancer and their female first-degree relatives (FDRs). Patients and Methods Patients were women with breast cancer and their FDRs enrolled in the population-based component of the Breast Cancer Family Registry; patients with breast cancer were tested for BRCA1 and BRCA2 mutations, as were FDRs of identified mutation carriers. We used segregation analysis to fit a model that accommodates familial correlation in breast cancer risk due to unobserved shared risk factors. Results We studied 3,047 families; 160 had BRCA1 and 132 had BRCA2 mutations. There was no evidence of increased breast cancer risk for noncarriers of identified mutations compared with FDRs from families without BRCA1 or BRCA2 mutations: relative risk was 0.39 (95% CI, 0.04 to 3.81). Residual breast cancer correlation within families was strong, suggesting substantial risk heterogeneity in women without BRCA1 or BRCA2 mutations, with some 3.4% of them accounting for roughly one third of breast cancer cases. Conclusion These results support the practice of advising noncarriers that they do not have any increase in breast cancer risk attributable to the family-specific BRCA1 or BRCA2 mutation.

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