A clinical case of a hereditary form of colorectal cancer associated with a CHEK2 gene defect

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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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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, 450076

Marina 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, Ufa

Evelina 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, 450076

Marat 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, 194100

Rita 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, 450076

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