Screening of the founder pathogenic variants BRCA1 and BRCA2 in Russian metropolitan women

The findings of this study highlight the critical need for improved genetic screening protocols to identify high-risk individuals effectively. By refining clinical guidelines and implementing comprehensive follow-up programs, healthcare systems can enhance early detection rates of cancers associated with BRCA1/2 variants, ultimately leading to better patient outcomes and personalized healthcare strategies.

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Publication Details

Journal
BMC Women s Health
Published
2025-11-26
DOI
https://doi.org/10.1186/s12905-025-04164-6
Primary Topic
BRCA gene mutations in cancer
Type
article
Field-Weighted Citation Impact
0.00
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article

Screening of the founder pathogenic variants BRCA1 and BRCA2 in Russian metropolitan women

Airat Bilyalov, Gurami Kvetenadze, Anastasiia Danishevich, I. E. Khatkov et al.
BMC Women s Health
BRCA gene mutations in cancer
article

Screening of the founder pathogenic variants BRCA1 and BRCA2 in Russian metropolitan women

Airat Bilyalov, Gurami Kvetenadze, Anastasiia Danishevich, I. E. Khatkov, Lyudmila Zhukova, Konstantin Rumyantsev, Natalia Bodunova, A. K. Andronov, Andrey V. Starshinin, Alexey Khripun
article en

Abstract

The findings of this study highlight the critical need for improved genetic screening protocols to identify high-risk individuals effectively. By refining clinical guidelines and implementing comprehensive follow-up programs, healthcare systems can enhance early detection rates of cancers associated with BRCA1/2 variants, ultimately leading to better patient outcomes and personalized healthcare strategies.

BMC Women s HealthVol. 25(1)
Moscow Clinical Scientific Center (RU), Mental Health Research Center of Russian Academy of Medical Sciences (RU)
Openalex Percentile: Top 61%
BRCA gene mutations in cancer
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