What question did this study set out to answer?

The aim is to identify rare genetic variants associated with breast and ovarian cancer in the Buryat population.

February 11, 2026Asian Pacific Journal of Cancer Prevention1 citationsOpen Access

Whole Exome Sequencing Revealed Rare Variants in BRCA2, RAD51D, FANGC, CYP24A1 Genes in Breast/Ovarian Cancer Patients from a Small Buryat Ethnic Group

PGPolina GervasNational Research Tomsk State University AMAlexey MolokovTomsk National Research Medical Center ТДТ. А. ДроноваRussian Academy of Sciences

Key Points

The aim is to identify rare genetic variants associated with breast and ovarian cancer in the Buryat population.
Conducted whole exome sequencing on individuals from a small Buryat ethnic group.
Analyzed variants in specific cancer-related genes: BRCA2, RAD51D, FANGC, and CYP24A1.
Compared genetic data to existing global populations.
Detected rare variants in BRCA2, RAD51D, FANGC, and CYP24A1 genes.
Supported previous findings that RAD51D variants are significant in breast/ovarian cancer pathogenesis.
Demonstrated strong genetic resemblance between Buryat populations and Chinese groups.

Abstract

For the first time, rare germinal variants in the BRCA2, RAD51D, FANGC, CYP24A1 genes were detected in a small Buryat ethnic group. Our data are consistent with existing data showing that variants in the RAD51D gene may be involved in the pathogenesis of breast/ovarian cancer. We also showed that the Mongolic-speaking Buryat populations exhibited strong genetic resemblance to those of Chinese.

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