| Japanese Journal of Clinical Oncology | Pages |
Non-traditional Study Designs in the Analysis of Gene-Environment Interactions
Tomotaka Sobue, Cancer Information and Epidemiology Division, National Cancer Center Research Institute, Tokyo, Japan
Study designs targeting high-risk families for particular cancers, such as linkage analysis or segregation analysis, have successfully revealed several rare germline mutations with high penetrance. A notable example is the intense search for breast cancer genes in high-risk families. Using linkage analysis in families with multiply affected members followed by direct sequencing of the gene, investigators have identified a gene on chromosome 17 (BRCA1) (1). Although very important for understanding the mechanism of carcinogenesis and for the genetic counseling of the affected family members, these findings have rather limited impact on society owing to their small attributable risks.
To make the social impact more substantial, genetic susceptibility with