http://research.usc.edu.au/vital/access/manager/Index ${session.getAttribute("locale")} 5 Tumor mismatch repair immunohistochemistry and DNA MLH1 methylation testing of patients with endometrial cancer diagnosed at age younger than 60 years optimizes triage for population-level germline mismatch repair gene mutation testing http://research.usc.edu.au/vital/access/manager/Repository/usc:20336 Wed 03 Aug 2016 15:14:28 AEST ]]> Common variation in Kallikrein genes KLK5, KLK6, KLK12, and KLK13 and risk of prostate cancer and tumor aggressiveness http://research.usc.edu.au/vital/access/manager/Repository/usc:20347 Wed 03 Aug 2016 15:08:10 AEST ]]> A novel tissue inhibitor of metalloproteinase-1 (TIMP-1) polymorphism associated with asthma in Australian women http://research.usc.edu.au/vital/access/manager/Repository/usc:20346 T and 836G>A (Arg279Gln) were not associated with asthma (p≥0.15) or asthma severity (p≥0.13), and TIMP-1 434T>C (Phe124Phe) was not associated with asthma in women (p = 0.094) or men (p = 0.207). In this population, MMP-9 -861 C>T and TIMP-1 323C>T (Pro87Pro) were not informative (with minor allele frequencies of <1%), and MMP-9 -1702T>A and TIMP-1 595C>T (Ser178Phe) were not detectable. However, a novel polymorphism was detected in the TIMP-1 gene 536C>T (Ile158Ile) which was significantly associated with asthma in women (p = 0.011; OR = 5.54, 95% Cl 1.66 to 34.4) but not in men (p = 1.0). 536C>T was found to be in linkage disequilibrium with 434T>C, and haplotype analysis supported an association with asthma (p = 0.014). Conclusions: This is the first reported association between a polymorphism in the TIMP-1 gene and asthma, and supports the hypothesis that the protease/antiprotease balance has an important role in this common disease.]]> Wed 03 Aug 2016 14:46:28 AEST ]]> The CD14 C-159T polymorphism is not associated with asthma or asthma severity in an Australian adult population http://research.usc.edu.au/vital/access/manager/Repository/usc:20345 Wed 03 Aug 2016 14:46:28 AEST ]]> Association between single-nucleotide polymorphisms in growth factor genes and quality of life in men with prostate cancer and the general population http://research.usc.edu.au/vital/access/manager/Repository/usc:20344 Wed 03 Aug 2016 14:25:45 AEST ]]> Genetic Association of the KLK4 Locus with Risk of Prostate Cancer http://research.usc.edu.au/vital/access/manager/Repository/usc:20343 Wed 03 Aug 2016 14:25:26 AEST ]]> Association between prostinogen (KLK15) genetic variants and prostate cancer risk and aggressiveness in australia and a meta-analysis of GWAS data http://research.usc.edu.au/vital/access/manager/Repository/usc:20342 Wed 03 Aug 2016 14:11:33 AEST ]]> Possible genetic predisposition to lymphedema after breast cancer http://research.usc.edu.au/vital/access/manager/Repository/usc:20338 2.0). Conclusions: These provocative, albeit preliminary, findings regarding possible genetic predisposition to secondary lymphedema following breast cancer treatment warrant further attention for potential replication using larger datasets. © Copyright 2012, Mary Ann Liebert, Inc.]]> Wed 03 Aug 2016 13:15:28 AEST ]]> Skewed X chromosome inactivation and breast and ovarian cancer status: Evidence for X-linked modifiers of BRCA1 http://research.usc.edu.au/vital/access/manager/Repository/usc:20337 Wed 03 Aug 2016 13:02:23 AEST ]]> A meta-analysis of genome-wide association studies to identify prostate cancer susceptibility loci associated with aggressive and non-aggressive disease http://research.usc.edu.au/vital/access/manager/Repository/usc:20333 Wed 03 Aug 2016 11:32:08 AEST ]]> 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 ]]> Vascular endothelial growth factor gene polymorphisms and ovarian cancer survival http://research.usc.edu.au/vital/access/manager/Repository/usc:20329 Tue 02 Aug 2016 16:25:24 AEST ]]> Candidate genetic modifiers for breast and ovarian cancer risk inBRCA1andBRCA2 mutation carriers http://research.usc.edu.au/vital/access/manager/Repository/usc:20328 Tue 02 Aug 2016 16:11:25 AEST ]]> Genome-wide association study identifies a possible susceptibility locus for endometrial cancer http://research.usc.edu.au/vital/access/manager/Repository/usc:20327 Tue 02 Aug 2016 15:50:24 AEST ]]> The RAD51D E233G variant and breast cancer risk: Population-based and clinic-based family studies of Australian women http://research.usc.edu.au/vital/access/manager/Repository/usc:20324 G), has been reported to be more prevalent in breast cancer cases from specific multiple-case breast cancer families, with an odds ratio of 2.6 (95% confidence interval (CI): 1.12-6.03). We assessed whether this variant was associated with breast cancer risk using two studies: a population-based case-control-family study based on 1,110 cases and 629 controls, and a clinic-based study based on 390 cases from multiple-case breast cancer families. We conducted case-control analyses and modified segregation analyses of carrier families. The carrier frequencies (95% CI) of the RAD51D variant were 4.1% (2.4-6.6) for clinic-based cases, 3.9% (2.8-5.2) for population-based cases, and 3.7% (2.3-5.4) for population-based controls, and were not significantly higher in case groups than controls (P = 0.7 and P = 0.8, respectively). After genotyping the relatives of cases who carried the variant, modified segregation analyses of these families were conducted, and the estimated hazard ratio for breast cancer corresponding to the E233G variant was 1.30 (95% CI: 0.66-2.58; P = 0.4) for familial breast cancer families and 1.28 (95% CI: 0.47-3.43; P = 0.6) for families unselected for family history. Therefore, despite being well powered to detect moderate risks, no evidence for an association between the E233G variant and breast cancer risk was observed in any setting. Larger studies would be required to determine if this variant is associated with a smaller risk of breast cancer. © 2007 Springer Science+Business Media, LLC.]]> Tue 02 Aug 2016 11:59:24 AEST ]]> BCoR-L1 variation and breast cancer http://research.usc.edu.au/vital/access/manager/Repository/usc:20323 Tue 02 Aug 2016 11:52:30 AEST ]]> Variation in the RAD51 gene and familial breast cancer http://research.usc.edu.au/vital/access/manager/Repository/usc:20322 A (p.R150Q) - reported to date. Methods: All nine coding exons of the RAD51 gene were analysed for variation in 46 well-characterised, BRCA1/2-negative breast cancer families using denaturing high-performance liquid chromatography. Genotyping of the exon 6 p.R150Q variant was performed in an additional 66 families. Additionally, lymphoblastoid cell lines from breast cancer patients were subjected to single nucleotide primer extension analysis to assess RAD51 expression. Results: No coding region variation was found, and all intronic variation detected was either found in unaffected controls or was unlikely to have functional consequences. Single nucleotide primer extension analysis did not reveal any allele-specific changes in RAD51 expression in all lymphoblastoid cell lines tested. Conclusion: Our study indicates that RAD51 is not a major familial breast cancer predisposition gene. © 2006 Lose et al.; licensee BioMed Central Ltd.]]> Tue 02 Aug 2016 11:46:01 AEST ]]> A Kallikrein 15 (KLK15) single nucleotide polymorphism located close to a novel exon shows evidence of association with poor ovarian cancer survival http://research.usc.edu.au/vital/access/manager/Repository/usc:20320 Tue 02 Aug 2016 10:07:24 AEST ]]> A replication study examining novel common single nucleotide polymorphisms identified through a prostate cancer genome-wide association study in a Japanese population http://research.usc.edu.au/vital/access/manager/Repository/usc:20317 Tue 02 Aug 2016 09:32:24 AEST ]]> Risk analysis of prostate cancer in practical, a multinational consortium, using 25 known prostate cancer susceptibility loci http://research.usc.edu.au/vital/access/manager/Repository/usc:20332 Thu 05 Oct 2017 16:35:55 AEST ]]> Polymorphisms in inflammation pathway genes and endometrial cancer risk http://research.usc.edu.au/vital/access/manager/Repository/usc:20325 Thu 05 Oct 2017 16:27:46 AEST ]]> The kallikrein 14 gene is down-regulated by androgen receptor signalling and harbours genetic variation that is associated with prostate tumour aggressiveness http://research.usc.edu.au/vital/access/manager/Repository/usc:20319 Mon 11 Sep 2017 12:12:12 AEST ]]> Genetic polymorphisms in the human tissue kallikrein (KLK) locus and their implication in various malignant and non-malignant diseases http://research.usc.edu.au/vital/access/manager/Repository/usc:20318 Mon 11 Sep 2017 12:12:11 AEST ]]> Reply to J. Moline et al http://research.usc.edu.au/vital/access/manager/Repository/usc:20335 Mon 07 Nov 2016 10:41:38 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 ]]> Seven prostate cancer susceptibility loci identified by a multi-stage genome-wide association study http://research.usc.edu.au/vital/access/manager/Repository/usc:20341 Fri 25 May 2018 10:02:57 AEST ]]> Identification of seven new prostate cancer susceptibility loci through a genome-wide association study http://research.usc.edu.au/vital/access/manager/Repository/usc:20339 Fri 25 May 2018 09:55:48 AEST ]]>