European Journal of Molecular & Clinical Medicine

Abstract

Women's Breast Cancer ranks first among other type in Iraq and the world. It often detects because of
examinations performed in patients on familial cancer history. Approximately, 10% of hereditary breast cancer
represents of all breast cancer cases and BRCA1/2 represented the responsible genes. Mutations in the BRCA1/2
germ increases the risk of hereditary breast cancer twenty times more. Therefore, the detection of BRCA1/2
genes mutations is important for the diagnosis, treatment and application of clinical methods of patients. New
generation sequencing is more useful than classical methods. With this method, a patient-specific clinical
treatment can be customized, treatment, and early diagnosis, facilitates new discoveries, identification of existing
mutations, primarily breast and ovarian cancer.
In this study, the female patients had selected between the ages of 18-49 living in Nineveh-Iraq and having
demographic identical qualities, the samples taken within the consent of the participants were examined and
some significant mutations had been detected. Bioinformatics studies of variants evaluatedas 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.