Introduction/Background Objectives of the study:
Identify families with accumulation of malignant neoplasms of female reproductive organs (endometrial cancer, ovarian cancer, breast cancer and multiple primary malignant neoplasms);
Formation of oncology hereditary risk groups based on pedigree analysis, clinical, laboratory, genetic, molecular tests;
DNA testing for mutations of gene BRCA1 in patients with endometrial cancer from families with high risk of cancer.
Methodology In this study we included dates from 361 first- degree relatives of 145 female patients with endometrial cancer. In this study we used methods, as: clinico-genealogical research, DNA testing for germline mutation in BRCA1.
Results In this study were identified 3 types of mutations in the BRCA1 gene, namely 5382insC (exon 20), 185delAG (exon 5) and 4153delA (exon 11). In patients with endometrial cancer associated with Lynch syndrome 5382insC mutation was the most frequent, its share was 72%.
Conclusion Prophylactic hysterectomy could be discussed with informed women carrying germline mutatinn BRCA1 from families with high risk of cancer. Additional studies are required to establish future prophylactic surgery guidelines.
Disclosure Nothing to disclose.
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