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

O. V. Paliychuk, Z. I. Rossokha

Abstract


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.

Keywords


genealogic tree; proband; hereditary predisposition; mutations in BRCA1/2 genes; ovarian cancer; breast cancer

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References


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Petrucelli N, Daly MB, Feldman GL. Hereditary breast and ovarian cancer due to mutations in BRCA1 and BRCA2. Genetics in Medicine 2010; 12: 245–259.

Cavanagh H, Rogers KMA. The role of BRCA1 and BRCA2 mutations in prostate, pancreatic and stomach cancers. Hereditary Cancer in Clinical Practice 2015; 13. doi:10.1186/s13053-015-0038-x.




Copyright (c) 2017 O. V. Paliychuk, Z. I. Rossokha

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