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. 2023 Jan;197(2):387-395.
doi: 10.1007/s10549-022-06782-2. Epub 2022 Nov 11.

A spectrum of BRCA1 and BRCA2 germline deleterious variants in ovarian cancer in Russia

Andrey Kechin  1   2 , Ulyana Boyarskikh  3 , Alexey Barinov  4 , Alexander Tanas  5 , Svetlana Kazakova  5 , Anastasia Zhevlova  5 , Evgeniy Khrapov  3 , Sergey Subbotin  3 , Olga Mishukova  3 , Tatiana Kekeeva  5 , Irina Demidova  4 , Maxim Filipenko  3   6
Affiliations

A spectrum of BRCA1 and BRCA2 germline deleterious variants in ovarian cancer in Russia

Andrey Kechin et al. Breast Cancer Res Treat. 2023 Jan.

Abstract

Purpose: Pathogenic variants (PVs) in BRCA1 and BRCA2 genes are essential biomarkers of an increased breast and ovarian cancer risk and tumor sensitivity to poly ADP ribose polymerase inhibitors. In Russia, eight PVs were thought to be the most common, among which BRCA1 c.5266dup is the most frequently identified one.

Methods: We show the distribution of BRCA1/2 PVs identified with quantitative PCR and targeted next-generation sequencing in 1399 ovarian cancer patients recruited into the study from 72 Russian regions in 2015-2021.

Results: The most abundant PVs were c.5266dup (41.0%), c.4035del (7.0%), c.1961del (6.3%), c.181 T > G (5.2%), c.3756_3759del (1.8%), c.3700_3704del (1.5%), and c.68_69del (1.5%), all found in BRCA1 and known to be recurrent in Russia. Several other frequent PVs were identified: c.5152 + 1G > T (1.2%), c.1687C > T (1.0%), c.4689C > G (0.9%), c.1510del (0.6%), c.2285_2286del (0.6%) in the BRCA1 gene; and c.5286 T > G (1.2%), c.2808_2811del (0.8%), c.3847_3848del (0.8%), c.658_659del (0.7%), c.7879A > T (0.6%), in the BRCA2 gene. For the most common PV in the BRCA2 gene c.5286 T > G, we suggested that it arose about 700 years ago and is a new founder mutation.

Conclusion: This study extends our knowledge about the BRCA1 and BRCA2 pathogenic variants variability.

Keywords: BRCA1/2; Germline mutations; Hotspot; NGS; Ovarian cancer.

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