BRCA1 and BRCA2 genes mutations in patients with multiple primary tumors
Keywords:multiple primary tumors, BRCA1 and the BRCA2 genes, 5382insC and 6174delT mutations, breast cancer, ovarian cancer
Multiple primary tumors are understudied cancer. Criteria multiplicity of primary tumor: a tumor should be located in different organs, their morphology must be unequal, and each tumor
should provide their own metastases. At the time of appearance there are synchronous and metachronous tumors.
The study to compare the clinical characteristics of multiple primary cancers of the female reproductive system and results of morphological and molecular genetic tumor research was performed.
The complex clinical, morphological and molecular genetic research included 44 patients aged 23–83 years with primary multiple malignant tumors of the female reproductive system, in families whose relatives suffered from cancer of the first and second degree, which corresponds to a cancer family syndrome (Lynch syndrome II). Molecular genetic study included identification of the most common in the Slavic populations BRCA1 and BRCA2 genes mutations – 5382insC and 6174delT respectively.
Study found 5382insC mutations in the BRCA1 gene in patients whose primary tumor was breast cancer, heterogeneity of tumor morphology, degree of differentiation and the clinical course, which was judged on the basis of analysis of cancer recurrence. 5382insC mutations in BRCA1 gene and 6174delT mutations in BRCA2 gene detected in 8 (18.2%) patients, the primary tumor had a different genesis. In most of the cases (6 patients out of 8) of metachronous tumor was ovarian cancer. The presence of mutations in the investigated tumors indicates their role in the development of breast cancer and ovarian cancer. Further investigation need to identify association between different genesis tumors with BRCA1 and BRCA2 gene mutations and investigation of hereditary pathological processes and the possible presence of these mutations in relatives of patients with breast or ovarian cancer.
It is proved the BRCA1/2 genes mutations as a predictive factor of the recurrence cancer risk in proband’s relatives.
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