Role of 5382 insС Mutation in BRCA 1 Gene in the Development of Hereditary and Multiple Primary Tumors (Clinical Case)

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Paliychuk, O. V. ; Rossokha, Z. I. (2015)
  • Publisher: Ivano-Frankivsk National Medical University
  • Journal: Galician Medical Journal (issn: 2414-1518)
  • Subject: genealogic tree; proband; hereditary predisposition; mutations in BRCA1/2 genes; ovarian cancer; breast cancer
    mesheuropmc: skin and connective tissue diseases

Case report of the development of multiple primary tumors, namely hereditary ovarian cancer and breast cancer in proband was described.  According to the results of complex examination and molecular-genetic counseling proband’s disease was associated with 5382 insС mutation in BRCA1 gene. This indicated the role of molecular genetic examination in detection of multiple primary malignant tumors of ovaries and breast in persons with the mutations in BRCA1/2 genes.
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