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Medical genetics
P.S. Orlov, D.A. Bredikhin, A.A. Lebedeva, A.A. Taraskina, T.V. Grigorieva, A.I. Subbotovskaya, M.I. Voevoda
Spectrum of pathogenic variants in the CHEK2, PALB2, and ATM genes in Russian patients with breast cancer
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AbstractAbstract. Breast cancer (BC) is one of the most common oncological diseases among women in the Russian Federation. With the development of sequencing technologies, it has become possible to search for causal mutations in various genes that contribute to carcinogenesis. The aim of this study was to characterize the spectrum of causal hereditary mutations in the BRCA1/BRCA2, CHEK2, PALB2, and ATM genes and the frequency of driver somatic mutations in the PIK3CA gene in a cohort of women with early-onset BC (under 40 years of age). The study included biological samples from 351 women with a mean age of 37.4 ± 4.9 years diagnosed with breast cancer (BC). Genomic DNA was isolated from whole blood samples from all patients and from 15 synchronous tumor tissue samples. The obtained DNA preparations were used to prepare genetic libraries using the Solo-test ABC Plus multigene panel (OncoAtlas, Russia). High-throughput sequencing (NGS) of the prepared libraries was performed on the MiSeq (Illumina, USA) and FASTASeq 300 (GeneMind, China) platforms. The study was constructed using a retrospective design. In the study group, 50 pathogenic variants were identified in the BRCA1/BRCA2 genes (14.2 %), 12 in CHEK2 (3.4 %), 6 in ATM (1.7 %), and 2 in PALB2 (0.6 %). In addition to pathogenic variants, variants in the CHEK2 gene that increase the risk of developing breast cancer were detected in 6 patients. In a sample of 351 patients, pathogenic variants of 3 genes (CHEK2, PALB2, ATM) were detected in 5.7 % of cases, which, together with mutations in the BRCA1 and BRCA2 genes, explains 20 % of breast cancer cases. Mass analysis of the CHEK2, PALB2, and ATM genes allows for significant improvements in the diagnostics of hereditary forms of breast cancer.
Key words: breast cancer; NGS; CHEK2; PALB2; ATM; BRCA1; BRCA2
For citation: Orlov P.S., Bredikhin D.A., Lebedeva A.A., Taraskina A.A., Grigorieva T.V., Subbotovskaya A.I., Voevoda M.I. Spectrum of pathogenic variants in the CHEK2, PALB2, and ATM genes in Russian patients with breast cancer. Pisma v Vavilovskii Zhurnal Genetiki i Selektsii = Lett Vavilov J Genet Breed. 2026. 2026;12(3):105112. doi 10.18699/letvjgb-2026-12-14
Funding. The study was partially carried out within the budget project FWNR-2026-0027 of the ICG SB RAS, it was carried out in the Centre for Collective Usage “Proteomic Analysis”.
Biodiversity
Supplementary materials
AbstractAbstract. The development of industrial potato varieties for the starch industry is becoming an important trend of potato breeding in Russia. The development of early and mid-early varieties with high starch content presents a high priority. The objective of this study was a comparative assessment for starch content and quality the potato cultivars and hybrid clones growing in the Tambov Region. In 2023–2025, 11 domestic, 10 foreign, and five promising hybrid potato clones of different maturity groups were evaluated for yield, marketability, and starch content. The thermodynamic properties of native starches, including gelatinization onset temperature and paste viscosity, were assessed for the first time. Cvs. Athletic, Cardyma, and Tilbury, clones 2588-122 and 144-3-2013 had better yield (on average more than 1000 g/plant). High starch content was observed in the cvs. Julia, Zarevo, Tobol, Bavatop, and clone 2588-122 (19 % or more). Meteorological conditions during the growing season (the “year” factor) significantly affected the yield, marketability, and starch content in the tubers of the studied potato accessions: F = 10.26 (p < 0.001), F = 15.03 (p < 0.001), and F = 6.97 (p < 0.05), respectively. Potato cultivars and hybrid clones differ significantly in the thermodynamic properties of their native starches. Gelatinization begins at temperatures of 67.7–74.6 °C, and the paste is characterized by high to very high viscosity in both hot and cold states. The high viscosity of the starch paste in cv. Julia and clone 2588-122 indicates the suitability of these starches for using as thickening agents in cooking. The low viscosity of the starch paste in cvs. Tobol, Bavatop, and Tilbury suggests potential for using these starches in the production of high-calorie food products, including baby food. The early-maturing cv. Tilbury is interesting particularly for further study, as its yield and starch content, under favorable growing conditions, meet the requirements for industrial potato varieties
Key words: native starch; gelatinization; visco-amylograph; temperature; yield; genotype; environmental condition
For citation: Shchekochihina Y.V., Kirpicheva T.V., Kibkalo I.A., Rogozina E.V. The starch amount and rheological properties of starch paste in potato varieties and hybrid clones growing in Tambov region. Pisma v Vavilovskii Zhurnal Genetiki i Selektsii = Lett Vavilov J Genet Breed. 2026;12(3):113-125. doi 10.18699/letvjgb-2026-12-15
Funding. The study was carried out within the framework of the state assignment of the Federal Research Center of the All-Russian Institute of Plant Genetic Resources named after N.I. Vavilov (VIR) FGEM-2025-0005 “Improving approaches and methods for ex situ conservation of the identified gene pool of tuber crops (potatoes, Jerusalem artichoke) and their wild relatives, developing technologies for their effective use in breeding”.
Acknowledgements. The authors thank the reviewers for their contributions to the peer review of this work.
Plant breeding
AbstractAbstract. The breeding of early-maturing and high-yielding potato varieties is of particular relevance to regions with a short growing season and a sharply continental climate. The aim of this study is to investigate the inheritance of the early-maturing trait in hybrid potato progeny. Potato varieties from different maturity groups were used as starting material for hybridisation: early-maturing – Lyubava, Matushka, Start, Goryanka, Kupets, Timo Hankkian; mid-early – Gala, Samba, Kemerovchanin, Mariinsky; mid-season – Tuleevsky. Hybridisation was carried out to obtain hybrid seeds, from which seedlings were subsequently grown to produce single-tuber plants. Early yield was assessed 70 days after planting. To calculate the degree of phenotypic dominance (Hp), the formula by G.M. Beil and R.E. Atkins (1965). The varieties Gala and Timo Hankkian, characterised by high pollen fertility, were selected as paternal forms. The varieties Gala and Kupets, distinguished by a high score for natural berry set, were selected as maternal forms. Phenotypic dominance analysis revealed that in most hybrid combinations, the early yield trait was inherited in an intermediate manner (Hp = 0.4–0.8: Matushka × Start, Start × Timo Hankkijan, Tuleevsky × Lyubava, Mariinsky × Samba, Kupets × Gala, Gala × Kupets), indicating an additive effect of genes and creating favorable conditions for selection. These combinations are highly valuable in breeding for the development of early-ripening potato varieties. Analysis of the early-ripening trait revealed the Samba × Lyubava combination, which, despite a relatively moderate Hp value (1.5), demonstrated the highest early yield of hybrid progeny (630 g/plant) and a high degree of trait variation (20.7 %). This combination of heterosis and increased progeny variability significantly expands the selection potential for promising early-ripening varieties and makes this combination one of the most valuable in breeding.
Key words: potato (Solanum tuberosum L.); early varieties; early maturity; selection; source material; inheritance of traits
For citation: Gureeva Yu.A., Simakov E.A., BatovA.S., Rogaleva K.A. Evaluation of the inheritance of the early maturity trait in hybrid potato progeny. Pisma v Vavilovskii Zhurnal Genetiki i Selektsii = Lett Vavilov J Genet Breed. 2026;12(3):126-135. doi 10.18699/letvjgb-2026-12-16
Funding. This work was supported by the Institute of Cytology and Genetics SB RAS, project FWNR-2026-0033.
Genetics
AbstractAbstract. This article explores the work of A.L. Yudin (1932–2017), the author of many years of original and largely pioneering research on cellular heredity and the analysis of the interaction between the nucleus and cytoplasm in single-celled amoebae. It also explores his genealogy, understood in a broad sense: scientific genealogy (teachers, mentors, the atmosphere of the scientific community) and the branches of his family tree.
Key words: genetics; amoeba; nucleus; cytoplasm
For citation: Golubovsky M.D. Genealogy and intricate experiments on cellular heredity. Geneticist Alexander L. Yudin. Pisma v Vavilovskii Zhurnal Genetiki i Selektsii = Lett Vavilov J Genet Breed. 2026;12(3):136-144. doi 10.18699/letvjgb-2026-12-17
Mathematical biology
Supplementary materials
AbstractAbstract. An analysis of educational and research practices shows that the increasing role of information technologies in biological research demands a high level of technical proficiency from specialists, which often leads to methodological challenges. Here we present the architecture of a universal computational module designed to address a wide range of systems biology tasks, including batch computing, parameter scanning, and model sensitivity analysis. The paper examines the mechanisms for launching and interacting with computational modules at the operating system level, providing a deeper understanding of the principles underlying modern pipeline tools for biological data processing. Typical problems arising from technical limitations are discussed, and recommendations are provided for organizing computational workflows on personal computers to minimize the risk of system failures. The appendix provides the source code for basic computational modules and an example of their integration into an automated pipeline, which includes parameter preparation, batch computing with metadata preservation, post-processing, and result visualization, applied to the mathematical modeling of gene networks.
Key words: systems biology; mathematical modeling; template model; unified computational module; batch computing; parameter variation; computational analysis; research automation
For citation: Kazantsev F.V., Mukhin A.M., Dolmatova A.A., Matushkin Yu.G., Lashin S.A. Software architecture of the module for the digital platform Gene Network Modeling. Pisma v Vavilovskii Zhurnal Genetiki i Selektsii = Lett Vavilov J Genet Breed. 2026;12(3):145-152. doi 10.18699/letvjgb-2026-12-18
Funding: This paper was supported by the budget project No. FWNR-2026-0023.