A clinical case of a hereditary form of colorectal cancer associated with a CHEK2 gene defect
- Authors: Minniakhmetov I.R.1, Bermisheva M.A.2, Kagirova E.M.1, Gordiev M.G.3, Khusainova R.I.1
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Affiliations:
- Republican Medical Genetic Center
- Ufa Branch of the Russian Academy of Sciences
- LLC “National Bioservice”
- Issue: Vol 26, No 1 (2021)
- Pages: 29-34
- Section: Case Reports
- URL: https://journals.rcsi.science/1028-9984/article/view/87485
- DOI: https://doi.org/10.17816/1028-9984-2021-26-1-29-34
- ID: 87485
Cite item
Abstract
The article describes a clinical case of colorectal cancer with a positive family history. In the course of a molecular genetic study by NGS sequencing, a germinal c.1607delC mutation was detected in exon 15 of the CHEK2 gene (NM_007194.4). According to ClinVar, this option has uncertain clinical significance. The article provides literature data on cases of carriage of CHEK2 gene mutations. More careful monitoring of carriers of pathogenic variants in the CHEK2 gene from families with multiple manifestations of colorectal cancer is now recommended.
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##article.viewOnOriginalSite##About the authors
Ildar R. Minniakhmetov
Republican Medical Genetic Center
Author for correspondence.
Email: minniakhmetov@gmail.com
ORCID iD: 0000-0002-7045-8215
SPIN-code: 8643-7056
https://rmgcufa.ru/ru/
Associate Professor of the Department of Medical Genetics and Fundamental Medicine, Director
Russian Federation, 74, st. Gafuri, Ufa, 450076Marina A. Bermisheva
Ufa Branch of the Russian Academy of Sciences
Email: marina_berm@mail.ru
ORCID iD: 0000-0002-0584-3969
SPIN-code: 6220-2619
MD, Doctor of Biological Sciences, Senior Researcher
Russian Federation, UfaEvelina M. Kagirova
Republican Medical Genetic Center
Email: evelina.kagirova@mail.ru
ORCID iD: 0000-0003-0882-7048
Postgraduate student of the Department of Medical Genetics and Fundamental Medicine, biologist
Russian Federation, 74, st. Gafuri, Ufa, 450076Marat G. Gordiev
LLC “National Bioservice”
Email: marat7925@gmail.com
ORCID iD: 0000-0002-3848-865X
SPIN-code: 8388-3566
director
Russian Federation, 17, letter A, Litovskaya st., St. Petersburg, 194100Rita I. Khusainova
Republican Medical Genetic Center
Email: ritakh@mail.ru
ORCID iD: 0000-0002-8643-850X
SPIN-code: 4091-9326
PhD, MD, Dr. Sci. (Biol.), Professor of the Department of Medical Genetics and Fundamental Medicine, Deputy Director for Laboratory and Diagnostic Work
Russian Federation, 74, st. Gafuri, Ufa, 450076References
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