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A. Bukaeva

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Open access Aug 2026

Extended Germline Profiling of Cancer Predisposition and Homologous Recombination Repair Genes in 275 Russian Patients with Triple-Negative Breast Cancer

Background/Objectives: Triple-negative breast cancer (TNBC) is enriched for germline pathogenic variants in BRCA1/2 and other DNA repair genes, but the additional value of extended germline profiling beyond BRCA1/2 remains insufficiently characterized in Russian patients. We aimed to characterize germline pathogenic/likely pathogenic variants (GPV/LPVs) and variants of uncertain significance (VUSes) in cancer predisposition and homologous recombination repair (HRR)-related genes in Russian TNBC patients and to assess the additional yield of extended germline profiling beyond BRCA1/2. Methods: We retrospectively analyzed germline DNA from 275 patients with histologically confirmed TNBC. Exome sequencing was performed for 204 patients and focused HRR-panel testing for 71 patients on the MGISEQ-G400 platform. Results: Overall, 114 patients (41.5%) harbored at least one germline GPV/LPV. BRCA1/2 GPV/LPVs were detected in 53 patients (19.3%), with BRCA1 predominating over BRCA2 (48 vs. 5 carriers) and the recurrent BRCA1 c.5329dup variant accounting for 23 cases. In the exome subset, 79 of 204 patients (38.7%) carried a GPV/LPV in Groups 1–3, including 48 (23.5%) with BC-related GPV/LPVs; non-BRCA Group 1 genes contributed seven additional carriers beyond BRCA1/2-only analysis. The expanded HRR set identified 52 GPV/LPV carriers (25.5%) versus 45 (22.1%) in the reference HRR panel, while the common HRR gene set identified 68 carriers (24.7%) in the full cohort. In addition, 183 unique VUSes were found in Groups 1–3 in the exome subset, affecting 128 patients (62.7%). Conclusions: Russian TNBC patients show a substantial germline GPV/LPV burden dominated by BRCA1/2 alterations and the recurrent BRCA1 c.5329dup founder variant. Extended germline profiling identified additional non-BRCA and HRR-related findings beyond BRCA1/2, but the incremental yield was moderate and accompanied by a considerable VUS burden. Broader germline testing may therefore support hereditary risk assessment and exploratory HRR-focused stratification, but non-BRCA HRR findings should not be considered sufficient for therapy selection without additional tumor-level or clinical evidence.

P. Shatalov, A. Bukaeva, E. Veselovsky et al. · 0 citations
Open access Jul 2026

Intrafamilial heterogeneity of clinical manifestations of a FBN1 gene variant in Marfan syndrome

Marfan syndrome is an autosomal dominant hereditary disorder of connective tissue characterized by pronounced phenotypic variability. The presented case describes a family with clinical manifestations ranging from isolated ectopia lentis to severe aortic disease without a characteristic phenotype. Furthermore, the age of onset and rate of progression of cardiovascular disease in the relatives also varied significantly. Genetic testing identified a missense variant in exon 10 of the FBN1 gene, resulting in a substitution of a cysteine residue in the TB1 domain of fibrillin-1, which was considered likely pathogenic. Verification of the diagnosis of Marfan syndrome allowed for timely referral of the proband to a cardiovascular surgeon to determine further treatment and adjust therapy. This case also demonstrates that a causative variant does not allow for a definitive prognosis of the disease course. Therefore, all carriers of the identified variant require regular multidisciplinary monitoring, regardless of the severity of clinical manifestations at the time of diagnosis.

E. Baranovskaya, A. Bukaeva, V. A. Rumyantseva et al. · 0 citations

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