A Web Based Mutation Analysis System for BRCA Genes

Abstract

Approximately 5 − 10% of breast cancer cases and 10% of ovarian cases are thought to be associated with autosomal dominant pattern of inheritance. BRCA1 and BRCA2 are two high-penetrance breast cancer susceptibility genes, accounting for approximately 84% of cases of hereditary breast cancer. Mutations in BRCA1 and BRCA2 are responsible for the majority of hereditary ovarion cancer, with 70% of the cases attributable to BRCA1 and 20% to BRCA2. Recently, there are molecular diagnosis tools to detect point mutation the BRCA1 and BRCA2 genes such as CSGE [1], cDNA chip [2], full gene sequencing method [3] and so on. Among them, the method by full gene sequencing method is recognized as the most accurate and exact method. But when we use the full sequencing, it is considered as a little time consuming work and usually is analyzed by hands. So it is necessary to make automation of that work. In order to automation analysis, bioinformatics skills and biology knowledge should be associated with each other enoughfully. In this paper, we present the method by sequencing and work flow which is associated with bioinformatics algorithm and skills.