https://ogma.newcastle.edu.au/vital/access/manager/Index ${session.getAttribute("locale")} 5 Vertex-magic labelings: mutations https://ogma.newcastle.edu.au/vital/access/manager/Repository/uon:7777 Wed 11 Apr 2018 17:19:24 AEST ]]> MSH6 and PMS2 mutation positive Australian Lynch syndrome families: novel mutations, cancer risk and age of diagnosis of colorectal cancer https://ogma.newcastle.edu.au/vital/access/manager/Repository/uon:10386 Wed 11 Apr 2018 17:00:11 AEST ]]> Genetic variants in MUTYH are not associated with endometrial cancer risk https://ogma.newcastle.edu.au/vital/access/manager/Repository/uon:6851 Wed 11 Apr 2018 10:50:17 AEST ]]> A high-throughput protocol for mutation scanning of the BRCA1 and BRCA2 genes https://ogma.newcastle.edu.au/vital/access/manager/Repository/uon:13893 Wed 11 Apr 2018 10:36:53 AEST ]]> Combined burden and functional impact tests for cancer driver discovery using DriverPower https://ogma.newcastle.edu.au/vital/access/manager/Repository/uon:55011 Wed 03 Apr 2024 10:12:43 AEDT ]]> Pan-cancer analysis of whole genomes https://ogma.newcastle.edu.au/vital/access/manager/Repository/uon:46707 1-3. Here we report the integrative analysis of 2,658 whole-cancer genomes and their matching normal tissues across 38 tumour types from the Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium of the International Cancer Genome Consortium (ICGC) and The Cancer Genome Atlas (TCGA). We describe the generation of the PCAWG resource, facilitated by international data sharing using compute clouds. On average, cancer genomes contained 4-5 driver mutations when combining coding and non-coding genomic elements; however, in around 5% of cases no drivers were identified, suggesting that cancer driver discovery is not yet complete. Chromothripsis, in which many clustered structural variants arise in a single catastrophic event, is frequently an early event in tumour evolution; in acral melanoma, for example, these events precede most somatic point mutations and affect several cancer-associated genes simultaneously. Cancers with abnormal telomere maintenance often originate from tissues with low replicative activity and show several mechanisms of preventing telomere attrition to critical levels. Common and rare germline variants affect patterns of somatic mutation, including point mutations, structural variants and somatic retrotransposition. A collection of papers from the PCAWG Consortium describes non-coding mutations that drive cancer beyond those in the TERT promoter4; identifies new signatures of mutational processes that cause base substitutions, small insertions and deletions and structural variation5,6; analyses timings and patterns of tumour evolution7; describes the diverse transcriptional consequences of somatic mutation on splicing, expression levels, fusion genes and promoter activity8,9; and evaluates a range of more-specialized features of cancer genomes8,10-18.]]> Tue 29 Nov 2022 11:22:06 AEDT ]]> Pathway and network analysis of more than 2500 whole cancer genomes https://ogma.newcastle.edu.au/vital/access/manager/Repository/uon:54476 Tue 27 Feb 2024 14:57:03 AEDT ]]> Integrative pathway enrichment analysis of multivariate omics data https://ogma.newcastle.edu.au/vital/access/manager/Repository/uon:54322 Tue 20 Feb 2024 15:58:30 AEDT ]]> A cryptic microdeletion del(12)(p11.21p11.23) within an unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndrome https://ogma.newcastle.edu.au/vital/access/manager/Repository/uon:53025 Tue 14 Nov 2023 14:30:04 AEDT ]]> Clinical Progress in Gold Nanoparticle (GNP)-mediated Photothermal Cancer Therapy https://ogma.newcastle.edu.au/vital/access/manager/Repository/uon:51604 Tue 12 Sep 2023 13:34:49 AEST ]]> Two truncating variants in FANCC and breast cancer risk https://ogma.newcastle.edu.au/vital/access/manager/Repository/uon:45124 Thu 27 Oct 2022 10:53:06 AEDT ]]> Capturing all disease-causing mutations for clinical and research use: toward an effortless system for the Human Variome Project https://ogma.newcastle.edu.au/vital/access/manager/Repository/uon:7418 Sat 24 Mar 2018 08:40:25 AEDT ]]> Clinical, genetic, and enzymatic characterization of P450 oxidoreductase deficiency in four patients https://ogma.newcastle.edu.au/vital/access/manager/Repository/uon:6962 Sat 24 Mar 2018 08:38:07 AEDT ]]> Flecainide prevents catecholaminergic polymorphic ventricular tachycardia in mice and humans https://ogma.newcastle.edu.au/vital/access/manager/Repository/uon:7968 Sat 24 Mar 2018 08:33:38 AEDT ]]> Juxtamembrane mutant V560GKit is more sensitive to Imatinib (ST1571) compared with wild-type c-Kit whereas the kinase domain mutant D816VKit is resistant https://ogma.newcastle.edu.au/vital/access/manager/Repository/uon:1418 Sat 24 Mar 2018 08:28:14 AEDT ]]> BRAF and NRAS mutational status are prognostically important in thick and locally advanced cutaneous melanoma https://ogma.newcastle.edu.au/vital/access/manager/Repository/uon:13259 Sat 24 Mar 2018 08:15:59 AEDT ]]> Mutation of vertex-magic regular graphs https://ogma.newcastle.edu.au/vital/access/manager/Repository/uon:21451 Sat 24 Mar 2018 08:05:46 AEDT ]]> SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome https://ogma.newcastle.edu.au/vital/access/manager/Repository/uon:5320 Sat 24 Mar 2018 07:45:58 AEDT ]]> An in vivo tumor model exploiting metabolic response as a biomarker for targeted drug development https://ogma.newcastle.edu.au/vital/access/manager/Repository/uon:130 Sat 24 Mar 2018 07:43:12 AEDT ]]> Comparison of genomic abnormalities between BRCAX and sporadic breast cancers studied by comparative genomic hybridization https://ogma.newcastle.edu.au/vital/access/manager/Repository/uon:261 Sat 24 Mar 2018 07:42:57 AEDT ]]> Occurrence of c-kit+ tumor cells in hepatitis B virus-associated hepatocellular carcinoma https://ogma.newcastle.edu.au/vital/access/manager/Repository/uon:330 Sat 24 Mar 2018 07:42:39 AEDT ]]> Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes https://ogma.newcastle.edu.au/vital/access/manager/Repository/uon:26556 Sat 24 Mar 2018 07:26:14 AEDT ]]> Characterisation of mitochondrial DNA deletions by long-PCR in central nervous system regions of young, middle- and old-aged rats https://ogma.newcastle.edu.au/vital/access/manager/Repository/uon:23723 Sat 24 Mar 2018 07:16:58 AEDT ]]> BRCA1/2 mutations are not a common cause of malignant melanoma in the Polish population https://ogma.newcastle.edu.au/vital/access/manager/Repository/uon:42998 A and c.4534 C>T. Disease allele frequency was evaluated by genotyping of 1230 consecutive melanoma cases, 5000 breast cancer patients, 3500 prostate cancers and 9900 controls. Both variants were found to be absent among unselected cancer patients and healthy controls. The MutationTaster, Polyphen2 and SIFT algorithms indicate that c.9334G>A is a damaging variant. Due to lack of tumour tissue LOH analysis could not be performed for this variant. The variant segregated with the disease. The c.4534 C>T variant did not segregate with disease, there was no LOH of the variant. The c.9334G>A variant, classified as a rare variant of unknown significance, on current evidence may predisposes to cancers of the breast, prostate and melanoma. Functional studies to describe how the DNA change affects the protein function and a large multi-center study to evaluate its penetrance are required. © 2018 DeÎbniak et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.]]> Fri 09 Sep 2022 14:03:47 AEST ]]> Genomic investigation of inherited thrombotic microangiopathy-aHUS and TTP https://ogma.newcastle.edu.au/vital/access/manager/Repository/uon:39994 Fri 01 Jul 2022 13:35:31 AEST ]]>