Early diagnosis of breast cancer by detection of genetic variation for BRCA1 AND BRCA2 genes in the women's of Nineveh province

Breast Cancer ranks first among cancer types among women in the world and in Iraq. It is observed that breast cancer is often detected as a result of examinations and examinations performed in patients admitted to the hospital based on familial cancer history. Hereditary breast cancer accounts for about 10% of all breast cancer cases, and in the vast majority of hereditary breast cancer diagnoses, the responsible genes are known as BRCA1 and BRCA2. Mutations in the BRCA1 and BRCA2 germ lines increase the risk of hereditary breast cancer twenty times more. Therefore, detection of BRCA1 and BRCA2 gene mutations is important for the diagnosis, treatment and application of clinical methods of patients evaluated in the risk group and mutation carrier family members. Next Generation Sequencing Approach is more useful than classical methods in terms of time, effort and cost. With the Next Generation Sequencing approach, a patient-specific clinical treatment flow can be created and treatment can be customized. Thus, very good results can be obtained in treatment and early diagnosis. However, the Next Generation Sequencing approach also facilitates new discoveries, as well as identification of existing mutations, as well as other cancer studies, primarily breast and ovarian cancer. In our study, we studied on female patients between the ages of 18-49, who lived in Nineveh, Iraq and spent all or part of their lives in Nineveh, having demographic identical qualities. Within the scope of this study, with the Next Generation Sequencing Analysis, the clinical samples taken within the consent of the participants were examined and significant and insignificant mutations were detected on the variants. Bioinformatics studies of variants evaluated as pathogenic were performed. In addition, variants of unknown clinical significance were identified and listed. Based on the results obtained in the study, it is concluded that tests should be applied directly in the laboratory environment to develop an understanding based on the Next Generation Sequencing approach for the detection of BRCA1 and BRCA2 mutations and to evaluate the functional role of the mutations. In addition, our study draws a conclusion for the early diagnosis of the New Generation Sequencing technique and the development of a personalized, patient-specific treatment approach. 2020, 44 sayfa Keywords: BRCA1, BRCA2, Next generation sequencing, Genetic variation, Hereditary breast cancer