Publications by authors named "A V Koloskov"
Article Synopsis
- The study investigates genetic factors linked to hereditary breast cancer (BC) beyond the known predisposing genes, as these only account for less than half of the cases.
- Whole exome sequencing was conducted on 49 Russian patients with a clinical history of genetic BC to identify candidate mutations, leading to a list of 229 possible mutations, with further analysis suggesting 6 mutations may increase BC risk.
- The findings highlight a rare splicing variant in the USP39 gene as potentially significant for BC susceptibility, particularly associated with triple-negative breast tumors, prompting the need for additional research into these genetic variants.
Exomes of 27 Russian subjects were analyzed for the presence of medically relevant alleles, such as protein-truncating variants (PTVs) in known recessive disease-associated genes and pathogenic missense mutations included in the ClinVar database. 36 variants (24 PTVs and 12 amino acid substitutions) were identified and then subjected to the analysis in 897 population controls. 9/36 mutations were novel, however only two of them (POLH c.
View Article and Find Full Text PDFThe up-to-date possibilities of transfusion therapy are presented in the article. The authors analyzed their own experience and made a review of literature. The study considers the mechanisms of treatment, immunological and infectious risks, indications and contraindications for application of transfusion therapy in surgical practice.
View Article and Find Full Text PDFOur previous studies, which included genotyping of multiple coding apoptotic gene polymorphisms, unexpectedly demonstrated a depletion of heterozygous CASP5 Ala90Thr (rs507879, c.268 G>A) genotypes in elderly subjects. Present investigation was aimed to validate this trend.
View Article and Find Full Text PDFPurpose: Polycyclic aromatic hydrocarbons are activated by cytochrome P450 1A1 (CYP1A1) and inactivated by glutathione S-transferase mu (GSTM1). Therefore, it is expected that a combination of proficient CYP1A1 genotype with deficient GSTM1 variant would result in particularly elevated lung cancer (LC) risk, especially for squamous cell carcinoma (SCC). This study was aimed to validate whether the CYP1A1-C (3801) (CYP1A1*2) allele has an unfavorable significance alone and/or in combination with the GSTM1 deficiency.
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