Medical and management approaches to the examination of hereditary cancer syndrome patients and their relatives

Introduction. Genetic testing has become the part of the practice of providing specialized cancer care. This allows not only detecting the further tactics for patient management, but also identifying a risk group for the occurrence of malignant neoplasms (MNP). However, there are still no algorithms for dispensary monitoring of healthy carriers of mutations, which determined the relevance of our study.

The purpose of the study was to propose an organizational model for the work of the office of hereditary tumor pathology (HTP) based on the analysis of our own experience in identifying patients with hereditary oncological syndromes and their relatives as potent carriers of mutations associated with an increased risk of occurring MNP.

Materials and methods. Genetic testing was carried out in two thousand two hundred seventy six patients (residents of Moscow) with breast, gastrointestinal tract, and ovarian cancer.

Results. 714 patients out of 2276 MNP patients had mutations associated with an increased risk of developing cancer. Further, 277 relatives of these patients were invited, and mutations were detected in 143 (51.7%). Based on these data, an management model of the HTP office was proposed as part of the Outpatient Oncology Center (OOC), and the need for specialists to work in the HTP office per 100 thousand people was determined — 0.06 oncologist’s rate, 0.03 doctor’s rate-genetics and 0.03 psychologist rates.

Limitations. This study did not include patients who did not meet the selection criteria, as well as persons under 18 years of age or who isn’t resident of Moscow.

Conclusion. The introduction of genetic testing of patients’ relatives into practice will allow forming risk groups for subsequent dispensary observation, early detection of tumor and precancerous pathology.

Compliance with ethical standards. The study program was approved by the Moscow City Independent Ethical Committee (protocol No. 69 dated 10/13/2020).

Contribution of the authors:
Byakhova M.M. — research concept and design, writing the text, compilation of the list of literature;
Parts S.A. — research concept and design, writing the text, statistical data processing, editing, compilation of the list of literature;
Semenova A.B. — collection and processing of material;
Kuzmina E.S. — collection and processing of material, compilation of the list of literature, editing;
Didenko V.V. — collection and processing of material;
Galkin V.N. — collection and processing of material, editing;
Gadzhieva S.M. — statistical data processing, editing.
All authors are responsible for the integrity of all parts of the manuscript and approval of the manuscript final version.

Acknowledgments. The study was conducted at the expense of a grant from the Department of Health of the City of Moscow (agreement on the provision of a grant in the form of a subsidy from the budget of the city of Moscow GKOB No. 1 1022/2 dated 12/24/2020).

Conflict of interest. The authors declare no conflict of interest.

Received: August 7, 2023
Accepted: October 11, 2023
Published: December 23, 2023