Current Issues Underlying in Genetic Testing of Familial Breast Cancer

Abstract

To elucidate the mutation rate and SNPs information of the BRCA1 and the BRCA2 genes in Japanese familial breast cancer, we developed a multi-center studying group of the genetic testing and performed the genetic testing by the stop codon assay and direct DNA sequencing analysis. We identified 11 pathogenic protein-truncating mutations and many SNPs in 65 individuals from 60 unrelated Japanese breast cancer families. Through the process of the project, we became aware of several critical points that should be incorporated in future studies. First, consideration for the ELSI of familial cancer, it is important to organize the studying group based on the ethical rules for implementing genetic testing for familial cancer. Second, the clinical validity and costeffectiveness for each method adopted for genetic testing should be evaluated. Finally, development of an accurate assay that can monitor the protein functions is necessary to distinguish between polymorphisms and missense mutations.