Organizational forms and methods of early diagnosis of hereditary tumors

Abstract

Background: With the development of genetic research in oncology, it has become possible to track and identify early and preclinical forms of hereditary oncological diseases, which allows timely and effective preventive and therapeutic measures in relation to relatives at risk. Aim of the study: Assessment of genetically determined neoplasms in the region and the development of organizational forms and methods for early diagnosis. Material and methods: 10,727 residents of the Belarus-Poland border region were examined. Clinical and medical history data of 2,054 patients with tumors of the breast (1406), ovaries (239), and colon (409) were analyzed. As a result of the questionnaire, three main observation groups were formed: “high risk of hereditary cancer”, “hereditary cancer suspected”, and “no risk of hereditary cancer”. Results: Register and hospital screenings were the most informative types of screening. Of the 149 HBC patients who underwent molecular genetic testing, BRCA1 gene mutations were found in 5.37%, 5382insC in all cases. Seven mutations were detected in 77 individuals with a diagnosis of HOC and in 6 cases 5382insC and in 2 - 4145delA. Signs of hereditary ovarian cancer and suspicion of it were found in 1.12%, including people who were found to have a high risk of hereditary ovarian cancer. By their effectiveness, register and hospital screenings significantly exceeded the population, p<0.01. 1.67% of women suffering from this disease met the high clinical risk criteria for hereditary ovarian cancer. A high clinical risk of hereditary tumor genesis was established in 0.73% of cases among patients with a diagnosis of colon cancer. Conclusions: The results of assessing the clinical risk of hereditary cancer according to population screening indicates that approximately 1.2% of the population has an increased clinical risk of developing hereditary breast, ovarian, and colon cancer.