Multicentre study of CASP8 polymorphisms in breast cancer

One approach to improve our understanding of the aetiology of breast cancer is to identify the genes involved in inherited susceptibility. These range from the rare high-penetrance mutations of the BRCA1 and BRCA2 genes to common low-penetrance variants, which are just beginning to be identified by means of whole-genome and candidate gene association studies. Owing to their small effect, these common variants are difficult to identify, requiring studies with large sample sizes. The Breast Cancer Association Consortium recently identified a single nucleotide polymorphism (SNP) in the CASP8 gene that is associated with a reduction in risk of breast cancer (rs1045485; D302H; Ptrend = 1.1 × 10-7) in a large multicentre cohort [1].