Редкий случай злокачественного новообразования ассоциированного с герминальной мутацией в гене CHEK2. Клиническое наблюдение

Abstract

An analysis of a series of population studies and the results of molecular genetic studies show that one of the predisposing factors in the development of cancer is the presence of a germline mutation. Monoallelic mutations in PALB2, CHEK2, and ATM may be associated with an increased risk of developing cancers other than breast cancer, as has been observed for BRCA1 and BRCA2, ovarian, and prostate cancers. A large body of evidence has now accumulated indicating that carriers of germline CHEK2 mutations face an increased risk of a variety of cancers that exhibit some specific clinicopathological characteristics. The paper presents data on the significance of germline mutations in the CHEK2 gene, as well as a clinical observation of a patient with a germline mutation in the CHEK2 gene and a developed malignant neoplasm. The above clinical observation makes it possible to establish a link between a germline mutation in the CHEK2 gene and the development of a rare malignant neoplasm at a young age in a patient. The paper reflects the need for genetic testing in healthy relatives of the patient for the presence of a germline mutation in the CHEK2 gene, which will allow for thorough screening measures for the early detection of malignant neoplasms.