Hereditary cancer syndromes: a modern paradigm

About 5-10% of malignant neoplasms (MN) are hereditary. Carriers of mutations associated with hereditary tumor syndromes (HTS) are at high risk of developing tumors in childhood and young age and synchronous and metachronous multiple tumors. At the same time, this group of diseases remains mainly an oncological problem, and clinical decisions are made only when MNs are detected in carriers of pathogenic mutations.Individual recommendations for cancer screening, treatment, and prevention should be developed for carriers of mutations associated with HTS to prevent an adverse outcome of the disease. It is essential to identify patients at risk by doctors of all specialties for further referral to medical and genetic counseling with molecular genetic testing (in case of indications). The problems of standardization of enrollment criteria for genetic tests, further tactics of prevention, screening, and treatment of many hereditary oncological diseases remain unsolved.This review was created to inform doctors of various specialties, including endocrinologists, about the HTS. This allows them to get acquainted with main clinical features of specific syndromes, helps to understand the difference between hereditary and non-hereditary cancer, recognize signs of hereditary cancer, and introduce the indications for genetic examination and genetic counseling of the patient. Also, significant differences between international and domestic recommendations on screening measures, diagnosis, and treatment of HTS underline the need to review the existing and develop new algorithms for medical support of patients with HTS.

Авторы
Baranova E.E.1 , Bodunova N.A.3 , Vorontsova МV.4 , Zakharova G.S.4 , Makarova M.V. 2 , Rumyantsev P.O.4 , Hat'kov I.E.3
Номер выпуска
4
Язык
Русский
Страницы
24-34
Статус
Опубликовано
Том
66
Год
2020
Организации
  • 1 Russian Medical Academy of Continuous Professional Education
  • 2 LLC Evogen
  • 3 Loginov Moscow Clinical Scientific Center
  • 4 Endocrinology Research Center
  • 5 Russian People's Friendship University (RUDN University)
Дата создания
20.04.2021
Дата изменения
20.04.2021
Постоянная ссылка
https://repository.rudn.ru/ru/records/article/record/72621/
Поделиться

Другие записи