http://research.usc.edu.au/vital/access/manager/Index ${session.getAttribute("locale")} 5 Candidate locus analysis of the TERT–CLPTM1L cancer risk region on chromosome 5p15 identifies multiple independent variants associated with endometrial cancer risk http://research.usc.edu.au/vital/access/manager/Repository/usc:20330 Tue 25 Jul 2017 13:43:02 AEST ]]> Fine-mapping of the HNF1B multicancer locus identifies candidate variants that mediate endometrial cancer risk http://research.usc.edu.au/vital/access/manager/Repository/usc:20334 Tue 24 Jan 2017 12:59:48 AEST ]]> Rare germline copy number deletions of likely functional importance are implicated in endometrial cancer predisposition http://research.usc.edu.au/vital/access/manager/Repository/usc:20331 0.05), but cases presented with an excess of rare germline deletions overlapping likely functional genomic regions including genes (P = 8 × 10−10), CpG islands (P = 1 × 10−7) and sno/miRNAs regions (P = 3 × 10−9). On average, at least one additional gene and two additional CpG islands were disrupted by rare deletions in cases compared to controls. The most pronounced difference was that over 30 sno/miRNAs were disrupted by rare deletions in cases for every single disruption event in controls. A total of 13 DNA repair genes were disrupted by rare deletions in 19/1,209 cases (1.6 %) compared to one gene in 1/528 controls (0.2 %; P = 0.007), and this increased DNA repair gene loss in cases persisted after excluding five individuals carrying CNVs disrupting mismatch repair genes MLH1, MSH2 and MSH6 (P = 0.03). There were 34 miRNA regions deleted in at least one case but not in controls, the most frequent of which encompassed hsa-mir-661 and hsa-mir-203. Our study implicates rare germline deletions of functional and regulatory regions as possible mechanisms conferring endometrial cancer risk, and has identified specific regulatory elements as candidates for further investigation. © 2014, Springer-Verlag Berlin Heidelberg.]]> Tue 02 Aug 2016 16:46:24 AEST ]]> Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array http://research.usc.edu.au/vital/access/manager/Repository/usc:20340 Fri 25 May 2018 10:02:58 AEST ]]>