The Cancer Genetics Laboratory focuses on why some people get breast cancer, and how these cancers develop from a normal cell. Using genome wide association studies (GWAS) we have identified over 250 breast cancer risk loci. We have successfully identified some of the target genes at several of these loci. The functional mechanism behind the associations usually involves perturbed regulation of target gene transcription by risk single nucleotide polymorphisms (SNPs) lying in regulatory elements positioned some distance from the target. The nearest gene to the GWAS ‘hit’ is not necessarily the target of the association, and for some loci there are multiple gene targets. We have developed a pipeline for predicting target genes at GWAS hits but the challenge of functionally interrogating each risk locus to identify the target gene(s) is enormous.
The lab has been continually supported by NHMRC since 1992