POLYNEOPLASIA OF FEMALE REPRODUCTIVE ORGANS AND HEREDITY

Objective. To study the clinical and genetic associations of tumors in women with polyneoplasia (PN) of reproductive organs. Subjects and methods. Clinical data and a family history were analyzed in 635 patients with PN of the reproductive system (including their 2318 first-degree relatives aged older than 20years) who had been treated at the N.N. Blokhin Russian Cancer Research Center, Ministry of Health of Russia, in the past 20 years. Biochip technology was used to determine the rate of 8 mutations in the BRCA1/2 and CHEK2 genes in 520patients with PN. Electrophoresis and PCR sequencing were also employed to screen the DNA mismatch-repair genes MLH1, MSH2, and MSH6 in 35patients with PN of the reproductive system and colon. Results. The cases of PN of the reproductive system, which were identified in our investigation, should be considered genetically induced. Molecular genetic studies showed that the rate of BRCAly mutations in patients with PN involving the ovaries was substantially higher (53.85%) than in those with solitary ovarian cancer (10.13%). Moreover, congenital defects of the DNA mismatch repair system of unpaired bases (MSH2, MLH1, and MSH6) were detected in 37% of the patients with PN of the reproductive system and colon. Conclusion. The role of both hereditary and sporadic mutations in the etiopathogenesis and prognosis of PN of the reproductive system is extremely high. Their timely identification is particularly important for the relatives of cancer patients because it will be able to elaborate a cancer prevention strategy.

polyneoplasia, cancer of reproductive organs, heredity