82Cases Of High-risk Breast Cancer Patients With BRCA1/2Genetic Mutation Research In Xinjiang Region

Objective: To investigate the prevalence and spectrum of the BRCA gene mutationin high-risk genetic factors in breast cancer cases in Xinjiang, China. And according to thesubject of data analysis to identify mutations in high-risk genetic factor in populationcharacteristics provide favorable evidence for further study analysis. Methods: Collected82cases of breast cancer patients with high-risk genetic factors from the June2010toJune2012in Xinjiang Tumor Hospital. Individual risk factors were included in this studyaccording to the following inclusion20criteria hereditary predisposition to breast cancer(HBC) cases (at least one first or second-degree relative with breast cancer),2hereditarypredisposition to breast and ovarian cancer cases(at least one first or second-degreerelative with breast cancer),20early-onset breast cancer cases(onset age below35years).10bilateral breast cancer cases and9triple-negative breast cancer cases(onset age below45years). A total of21cases of patients with two or three risk factors. Genomic DNA wasextracted and relevant cording sequences were amplified by PCR. The entire codingBRCA1/2genes were analyzed by DHPLC followed by DNA sequencing. Results: A totalof eight deleterious mutations were identified four in BRCA1and four in BRCA2. Theprevalence of BRCA1/2mutation in high-risk HBC was9.8%(8/82). Pathogenic BRCA1and BRCA2mutation rates were4.9%. No significant difference was observed among theethnic groups or the different ages and also the different genetic background terms ofBRCA1/2mutation prevalence. Conclusion: The breast cancer patients with high-riskgenetic factors had different BRCA mutation spectra from breast cancer cases in Xinjiang.And in Xinjiang multi-ethnic areas BRCA1/2gene mutation incidence and mutation sitesmay be made by the interaction of specific environmental factors genetic factors.