<abstract xmlns="http://www.w3.org/1999/xhtml"><p>Detection of mutations in breast cancer 1 (BRCA1) and breast cancer 2 (BRCA2) gene is an effective method of early diagnosis and prevention of breast cancer (BC). The mutational spectrum of both genes in Bulgarian population has not been studied in depth. The aim of this study was to investigate the prevalence of five deleterious BRCA1/2 point mutations in high-risk BC women, selected according to the National Comprehensive Cancer Network (NCCN) Guidelines including early age of onset, triple-negative BC and family history of breast or ovarian cancer. The prevalence of two BRCA1 mutations (C61G and 5382insC) and three BRCA2 mutations (6079del4, 9326insA and 9908delA) was evaluated in 80 females with BC, obtained from the Cancer Registry of University Hospital - Pleven. Genetic testing was performed by direct DNA sequencing. One deleterious mutation (5382insC in exon20 in BRCA1) was been found in two patients (2.5%). Both women were diagnosed with BC before age 45. The prevalence of BRCA mutations established in our study was lower than the one found in another preliminary study on Bulgarian population. We concluded that this discrepancy was due to the genetic heterogeneity of the population and the specific mutational spectrum of the BC patients from the Pleven region.</p></abstract>

Detection of mutations in breast cancer 1 (BRCA1) and breast cancer 2 (BRCA2) gene is an effective method of early diagnosis and prevention of breast cancer (BC). The mutational spectrum of both genes in Bulgarian population has not been studied in depth. The aim of this study was to investigate the prevalence of five deleterious BRCA1/2 point mutations in high-risk BC women, selected according to the National Comprehensive Cancer Network (NCCN) Guidelines including early age of onset, triple-negative BC and family history of breast or ovarian cancer. The prevalence of two BRCA1 mutations (C61G and 5382insC) and three BRCA2 mutations (6079del4, 9326insA and 9908delA) was evaluated in 80 females with BC, obtained from the Cancer Registry of University Hospital - Pleven. Genetic testing was performed by direct DNA sequencing. One deleterious mutation (5382insC in exon20 in BRCA1) was been found in two patients (2.5%). Both women were diagnosed with BC before age 45. The prevalence of BRCA mutations established in our study was lower than the one found in another preliminary study on Bulgarian population. We concluded that this discrepancy was due to the genetic heterogeneity of the population and the specific mutational spectrum of the BC patients from the Pleven region.

Prevalence of Five BRCA1/2 Mutations in Bulgarian Breast Cancer Patients

Journal of Biomedical and Clinical Research

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 License.

{"article-title":"Prevalence of Five BRCA1/2 Mutations in Bulgarian Breast Cancer Patients"}

Detection of mutations in breast cancer 1 (BRCA1) and breast cancer 2 (BRCA2) gene is an effective method of early diagnosis and prevention of breast cancer...

Prevalence of Five BRCA1/2 Mutations in Bulgarian Breast Cancer Patients

Published Online: Dec 30, 2019

Page range: 123 - 127

Received: Aug 27, 2018

Accepted: Jan 17, 2019

DOI: https://doi.org/10.2478/jbcr-2018-0017

Keywords
BRCA1, BRCA2, breast cancer (BC), Bulgarian population, mutation

© 2018 Katia S. Kovacheva et al., published by Sciendo

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 License.

Prevalence of Five BRCA1/2 Mutations in Bulgarian Breast Cancer Patients

Published Online: Dec 30, 2019

Page range: 123 - 127

Received: Aug 27, 2018

Accepted: Jan 17, 2019

DOI: https://doi.org/10.2478/jbcr-2018-0017

KeywordsBRCA1, BRCA2, breast cancer (BC), Bulgarian population, mutation

© 2018 Katia S. Kovacheva et al., published by Sciendo

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 License.

Keywords
BRCA1, BRCA2, breast cancer (BC), Bulgarian population, mutation