Investigating the role of intronic polymorphisms in NRG1 and DIRC3 in breast cancer predisposition (360G-Wellcome-202657_Z_16_Z)

Multiple genetic loci are associated with breast cancer, although only a small proportion are individually associated with a high relative risk of disease. Only a minority of the risk of familial breast cancer is explained by mutations in single genes. It is hypothesised that the remaining heritability of breast cancer may be attributed to the cumulative contribution of a number of low-risk variants. This risk may also be modified by environmental and hormonal factors. Single nucleotide polymorphisms (SNPs) refer to DNA sequence variation at one base pair between paired alleles in an individual or between two individuals. There are approximately ten million SNPs in the human genome, occurring with a frequency of one per 300 nucleotides.The majority are benign, but they may become pathogenic if they occur in a critical coding or regulatory region. The aim of this study is to investigate the frequency of intronic single nucleotide polymorphisms in NRG1 (Neuregilin 1) and DIRC3 (Disrupted in Renal Cancer 3) in a cohort of Irish patients with breast cancer, and to evaluate their association with disease.