Abstrakt: |
A recent study conducted by researchers at the University of Bucharest in Romania aimed to identify and classify mutations in the BRCA1 and BRCA2 genes associated with breast and ovarian cancer in female patients in Romania. The study found that out of the 616 female patients included, 78.2% did not have any mutations in the genes, while 11.2% had a BRCA1 mutation and 5.5% had a BRCA2 mutation. The research also highlighted the frequency of a specific mutation in the BRCA1 gene, known as the c.5266 mutation, which is considered a founder mutation in Eastern Europe. The study's findings contribute to the understanding of BRCA1 and BRCA2 mutations in the Romanian population and may help in the creation of a genetic database for the country. [Extracted from the article] |