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Author

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

Russian TNBC patients show a substantial germline GPV/LPV burden dominated by BRCA1/2 alterations and the recurrent BRCA1 c.5329dup founder variant, which may support hereditary risk assessment and exploratory HRR-focused stratification, but non-BRCA HRR findings should not be considered sufficient for therapy selectio...

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

This case demonstrates that a causative variant does not allow for a definitive prognosis of the disease course, and 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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