Publications by authors named "K S Grammatikati"
Prevalence of the cancer-associated germline variants in Russian adults and long-living individuals: using the ACMG recommendations and computational interpreters for pathogenicity assessment.
Mariia Gusakova Irina Dzhumaniiazova Elena Zelenova Daria Kashtanova Mikhail Ivanov Konstantin Grammatikati
Front Oncol
September 2024
Article Synopsis
- This study analyzes the prevalence of cancer-related genetic variants in the Russian population, focusing on two groups: nearly 75,000 adults and over 2,800 long-lived individuals.
- Using a semi-automated algorithm, researchers identified and interpreted variants in 28 recommended cancer-associated genes, resulting in the discovery of numerous novel and known pathogenic variants.
- The findings provide valuable genetic information that could enhance cancer prevention strategies and screening methods, while the hybrid assessment algorithm improves the process of evaluating variant significance.
Bronchial asthma (BA) is a disease that still lacks an exhaustive treatment protocol. In this regard, the global medical community pays special attention to the genetic prerequisites for the occurrence of this disease. Therefore, the search for the genetic polymorphisms underlying bronchial asthma has expanded considerably.
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