Russian Journal of OncologyRussian Journal of OncologyРоссийский онкологический журнал1028-99842412-9119Eco-Vector8748510.17816/1028-9984-2021-26-1-29-34Case ReportsКлинические случаиResearch ArticleA clinical case of a hereditary form of colorectal cancer associated with a CHEK2 gene defectКлинический случай наследственной формы рака кишечника, ассоциированного с дефектом гена СНЕК2https://orcid.org/0000-0002-7045-82158643-7056MinniakhmetovIldar R.МинниахметовИлдар Рамилевич
Russian Federation

Associate Professor of the Department of Medical Genetics and Fundamental Medicine, Director

доцент кафедры медицинской генетики и фундаментальной медицины, директор

minniakhmetov@gmail.comhttps://rmgcufa.ru/ru/https://orcid.org/0000-0002-0584-39696220-2619BermishevaMarina A.БермишеваМарина Алексеевна
Russian Federation

MD, Doctor of Biological Sciences, Senior Researcher

доктор биологических наук, старший научный сотрудник

marina_berm@mail.ruhttps://orcid.org/0000-0003-0882-7048KagirovaEvelina M.КагироваЭвелина Марсельевна
Russian Federation

Postgraduate student of the Department of Medical Genetics and Fundamental Medicine, biologist

аспирант кафедры медицинской генетики и фундаментальной медицины, биолог

evelina.kagirova@mail.ruhttps://orcid.org/0000-0002-3848-865X8388-3566GordievMarat G.ГордиевМарат Гордиевич
Russian Federation

director

директор

marat7925@gmail.comhttps://orcid.org/0000-0002-8643-850X4091-9326KhusainovaRita I.ХусаиноваРита Игоревна
Russian Federation

PhD, MD, Dr. Sci. (Biol.), Professor of the Department of Medical Genetics and Fundamental Medicine, Deputy Director for Laboratory and Diagnostic Work

доктор биологических наук, профессор кафедры медицинской генетики и фундаментальной медицины, заместитель директора по лабораторно-диагностической работе

ritakh@mail.ruRepublican Medical Genetic CenterРеспубликанский медико-генетический центрUfa Branch of the Russian Academy of SciencesУфимский федеральный исследовательский центр Российской академии наукLLC “National Bioservice”ООО «Национальный Биосервис»1501202126129341011202129122021Copyright ©; 2021, Eco-VectorCopyright ©; 2021, ООО "Эко-Вектор"2021Eco-VectorООО "Эко-Вектор"https://rjonco.com/1028-9984/article/view/87485

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.

В статье приведено описание клинического случая колоректального рака с отягощённым семейным анамнезом. В ходе молекулярно-генетического исследования методом NGS-секвенирования выявлена герминальная мутация с.1607delC в 15 экзоне гена СНЕК2 (NM_007194.4). Согласно ClinVar данный вариант имеет неопределённое клиническое значение. В статье приведены литературные данные случаев носительства мутаций гена СНЕК2. В настоящее время рекомендуется более тщательное наблюдение за носителями патогенных вариантов в гене CHEK2 из семей с множественными проявлениями колоректального рака.

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