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

Kechin, Andrey; Boyarskikh, U. A.; Barinov, Alexey; Танас, А. С.; Kazakova, Svetlana; Zhevlova, A. I.; Khrapov, E. A.; Subbotin, Sergey; Mishukova, O. V.; Кекеева, Т. В.; Demidova, Irina; Филипенко, М. Л.

doi:10.1007/s10549-022-06782-2

Cited by 5 publications

(2 citation statements)

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“…We suppose that the reduced frequency of well-known PVs is the result of routine genetic screening performed before HRD testing for the early detection of targetable genetic alterations. However, PVs not included in the routine screening were discovered with expected frequencies, in particular BRCA2 c.5286T>G, recently identified in Russian ovarian cancer patients as a new founder mutation [ 19 ]. The BRCA testing in our study has some limitations.…”

Section: Discussionmentioning

confidence: 99%

HRD Testing of Ovarian Cancer in Routine Practice: What Are We Dealing With?

Kekeeva,

Andreeva,

Tanas

et al. 2023

IJMS

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Assessment of homologous recombination deficiency (HRD) status is now essential for ovarian cancer patient management. The aim of our study was to analyze the influence of ethnic variations, tumor purity, and neoadjuvant chemotherapy (CT) on the determination of HRD scores as well as to evaluate feasibility of HRD testing with the Amoy HRD Focus Assay in routine clinical practice. The HRD status, including the BRCA status and genomic scar score (GSS), was analyzed in 452 ovarian cancer specimens. The successful rate of HRD testing was 86% (388/452). The BRCA mutational rate was 29% (114/388); 252 samples (65%) were classified as HRD-positive. Our data demonstrate the feasibility of internal HRD testing by the AmoyDx HRD Focus Panel for high-grade serous ovarian cancer (HGSOC), showing results similar to other methods. The HRD rate in the Russian population is very similar to those of other European populations, as is the BRCA mutation frequency. The most substantial contribution to HRD level diversity is testing criteria depending on intrahospital arrangements. The analysis shows that biallelic BRCA alterations had higher GSS compared with those with monoallelic inactivation, consistent with positive HRD status. The study indicates that grades 1–2 of the pathological response caused by chemotherapy affect HRD scores and suggests controlling for tumor purity of 40% or more as a critical factor for GSS measurement.

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Section: Discussionmentioning

confidence: 99%

HRD Testing of Ovarian Cancer in Routine Practice: What Are We Dealing With?

Kekeeva,

Andreeva,

Tanas

et al. 2023

IJMS

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“…In addition, there are Republic of Adygea and several Armenian settlements located in the south of Russia (Table 1). b Data have been published [19] While the genetics of breast and ovarian cancer in ethnic Slavs, including residents of Russia, is relatively well studied [11][12][13][20][21][22], no systematic investigations have been done for the populations of the North Caucasus. The way of life in the regions mentioned above allows to expect a high contribution of founder alleles, with a unique spectrum of pathogenic variants for each of the ethnic groups.…”

Section: Introductionmentioning

confidence: 99%