Investigation of BRCA1 and BRCA2 mutations in breast and ovarian cancers

Breast cancer is the most prevalent malignant disease among women. Familial or germline mutations in tumor suppressor genes BRCA1 and BRCA2 cause breast cancer with 5-10% and 20-40% risk, respectively. These genes function in the repairment of double strand breaks of DNA through homologous recombination. The number of newly diagnosed ovarian cancer patients in 2018 was 295,414 and 184,799 of them resulted in death. Among women, the most common ovarian cancer is epithelial ovarian cancer, which resulted in at least 140,000 deaths per year. Malformation in DNA repair is associated with the onset of cancer formation as a result of polymorphism and altered gene function. The double stranded DNA breaks are repaired by homologous recombination with the activity of the RAD51 regulated by BRCA2. N372H is the most common non-synonymous polymorphism in exon 10 of BRCA2. This modified region is responsible for activation of the target gene transcription with histone acetyl transferases. The BRCA2 polymorphism N372H was investigated among voluntary breast and ovarian cancer patients in the Turkish population. For this purpose, the distribution of nucleotide change in these patients was compared with a healthy control group. The data obtained from results were statistically analyzed. In summary, no statistically significant results about showing the effect of N372H on breast and ovarian cancer were found. Due to low penetration, the sample size should be increased for further investigation.