${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 Tue 25 Jul 2017 13:43:02 AEST ]]> Fine-mapping of the HNF1B multicancer locus identifies candidate variants that mediate endometrial cancer risk Tue 24 Jan 2017 12:59:48 AEST ]]> Rare germline copy number deletions of likely functional importance are implicated in endometrial cancer predisposition 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 Fri 25 May 2018 10:02:58 AEST ]]>