Functional coding and non-coding variants in human BRCA1 gene and their use in genetic screening.

摘要: BRCA1 is involved in double-strand DNA damage repair pathways, and mutations the gene are associated with hereditary breast ovarian cancers. With great help of development high-throughput sequencing techniques numerous single-nucleotide polymorphisms (SNPs) insertion deletion (Indel) detected on both coding non-coding/regulatory regions BRCA1. Mutations may cause pathogenic or benign changes protein function affect its expression. In last decade, use genetic screening tests to detect such genes has become greatly popular. However, it very important know effect mutations, which mostly possible by predictive softwares, also related family history be able correctly analyse results inform patient. Therefore, silico vitro score pathogenicity variants like now importance. Otherwise, obtained from cannot analysed precisely.