Detection of BRCA mutations for breast cancer in southern China / 中华普通外科杂志

ABSTRACT

Objective To investigate the prevalence of BRCA1/2 mutations in breast cancer patients of Han ethnic group in southcrn China,and to provide the genetic basis for early diagnosis and treatment of breast cancer.Methods 70 samples of breast cancer patients of Han ethnic group in southern China and 70 normal control samples were tested.The whole coding exons of BRCA1 and BRCA2 genes were analyzed using hybridization based enrichment and next-generation sequencing (NGS).According to the results of NGS,we detected pathogenic mutations of BRCA genes.Results In 70 breast cancer patients,a total of 5 deleterious mutations were identified,4 of these were novel mutations,and no pathogenic variation was found in normal control group.Furthermore,we detected 3 low frequency mutations which are likely to relate to cancer susceptibility.Conclusions 4 novel deleterious mutations were reported,as well as some variants of unknown clinical significance for the prevalence of BRCA1/2 mutations of 70 breast cancer patients of Han ethnic group in southern China.