BRCA1 and BRCA2 Gene Mutations Screening In Sporadic Breast Cancer Patients In Kazakhstan

Central Asian Journal of Global Health
Ainur AkilzhanovaKuvat T Momynaliev

Abstract

A large number of distinct mutations in the BRCA1 and BRCA2 genes have been reported worldwide, but little is known regarding the role of these inherited susceptibility genes in breast cancer risk among Kazakhstan women. To evaluate the role of BRCA1/2 mutations in Kazakhstan women presenting with sporadic breast cancer. We investigated the distribution and nature of polymorphisms in BRCA1 and BRCA2 entire coding regions in 156 Kazakhstan sporadic breast cancer cases and 112 age-matched controls using automatic direct sequencing. We identified 22 distinct variants, including 16 missense mutations and 6 polymorphisms in BRCA1/2 genes. In BRCA1, 9 missense mutations and 3 synonymous polymorphisms were observed. In BRCA2, 7 missense mutations and 3 polymorphisms were detected. There was a higher prevalence of observed mutations in Caucasian breast cancer cases compared to Asian cases (p<0.05); higher frequencies of sequence variants were observed in Asian controls. No recurrent or founder mutations were observed in BRCA1/2 genes. There were no statistically significant differences in age at diagnosis, tumor histology, size of tumor, and lymph node involvement between women with breast cancer with or without the BRCA sequence alter...Continue Reading

Citations

Sep 6, 2020·Journal of Cellular and Molecular Medicine·Balsam RizeqAllal Ouhtit

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Datasets Mentioned

BETA
U14680
U43746

Methods Mentioned

BETA
PCR
protein assay

Software Mentioned

Finch TV
Sequence Analysis
SeqScape
Myriad II
SPSS

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