Absence of BRCA1 185delAG, BRCA1 5382InsC and BRCA2 6174delT among Hereditary Breast Cancer Patients in North Sumatera, Indonesia

Yolanda Sitompul, Sumaryati Syukur, Syafrizayanti Syafrizayanti, Endang Purwati

Abstract


One causes of breast cancer is mutations in tumor suppressor genes, namely BRCA1 and BRCA2. One of the most common types of mutations is 185delAG , 5382InsC in the BRCA1 and 6174delT  in the BRCA2 gene. This mutation is called the foundation mutation which the frequency were high in the Jewish Ashkenazi population. The aim of this study was to detect the frequency of founder mutation in hereditary breast cancer patients in the North Sumatran population using the PCR-RFLP method and confirmation by sequencing. The results showed that there was no mutation in the population of north sumatera, this may be due to a small number of samples or non-specific mutations occur.


Keywords


BRCA1; BRCA2; mutation; breast cancer; PCR-RFL.

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References


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