SSCP Analysis on GenePhor: A Screening Method for BRCA1 Point Mutations

Since the cloning of BRCA1, a breast cancer susceptibility gene, several mutations have been found. Mutations in this gene are thought to be the cause of about 50% of all hereditary breast cancers. In addition, BRCA1 mutations are also associated with an increased risk of ovarian cancer. Due to the vast size of this gene (22 exons), sequencing to screen for mutations is time consuming and costly. An alternative method is PCR-SSCP. PCR-SSCP analysis can be a simple and convenient method for the identification of DNA polymorphisms or mutations prior to sequencing. This application note demonstrates an example of SSCP analysis of exon 11O of BRCA1.