The interpretation of somatic genetic variants identified with high-throughput sequencing of DNA from paediatric solid tumors
https://doi.org/10.25557/2073-7998.2021.03.3-25
Abstract
Active clinical implementation of high-throughput DNA sequencing requires a common approach to the interpretation of detected genetic variants, including variants with somatic status. In 2017, the United States Association of Molecular Pathology (AMP), the American College of Medical Genetics and Genomics (ACMG), the American Society of Clinical Oncology (ASCO), and the College of American Pathologists (CAP) published the guidelines for interpreting and reporting the somatic genetic variants in cancer identified using high-throughput sequencing analysis. This review focuses on the specific application of the AMP/ACMG/ASCO/CAP guidelines in the field of genetic research on paediatric solid tumors. In particular, the review provides the criteria for classification of somatic genetic variants, discusses the problems of evaluating the clinical significance of genetic findings in paediatric tumors, and provides examples of classification of genetic variants specific for certain types of childhood solid malignancies.
About the Authors
M. A. Spektor
Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Ministry of Health of Russia
Russian Federation
Russian Federation
L. A. Yasko
Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Ministry of Health of Russia
Russian Federation
Russian Federation
A. E. Druy
Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Ministry of Health of Russia; Research Institute of Medical Cell Technologies
Russian Federation
Russian Federation
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For citations:
Spektor M.A., Yasko L.A., Druy A.E. The interpretation of somatic genetic variants identified with high-throughput sequencing of DNA from paediatric solid tumors. Medical Genetics. 2021;20(3):3-25. (In Russ.) https://doi.org/10.25557/2073-7998.2021.03.3-25
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