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Olesya V. Sagaydak

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Open access Aug 2026

CHEK2 Germline Variants in Cancer Predisposition: Whole Genome Sequencing Results

Assessment of the role of germline CHEK2 variants in the development of different cancer types confirmed that CHEK2 c.470T>C is the most common variant in the patient group, and the contribution of this variant to hereditary cancer risk in the Russian population is modest.

M. Nemtsova, M. Makarova, Anastasiia M. Danishevich et al. · 0 citations
Case report Open access Aug 2026

Expanding the Genomic Spectrum of NHLRC2-Associated FINCA Disease: Integrated Bioinformatic Characterization of a Novel Deep Intronic Variant Predicted to Activate a Pseudoexon

A male infant with a severe FINCA-like phenotype is reported, including early-onset hemolytic anemia, pulmonary involvement, neurodevelopmental impairment, growth failure, recurrent infections, and fatal progression at 8.5 months.

A. Rozhkova, Anton A. Esibov, Aleksandra Borkovskaia et al. · 0 citations

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