Massive genomic rearrangement acquired in a single catastrophic event during cancer development. Expanded extracolonic tumor spectrum in MUTYH-associated polyposis. MUTYH-associated polyposis (MAP): evidence for the origin of the common European mutations p.Tyr179Cys and p.Gl圓96Asp by founder events. Inherited variants of MYH associated with somatic G:C->T:A mutations in colorectal tumors. Whole-genome characterization of chemoresistant ovarian cancer. Landscape of somatic mutations in 560 breast cancer whole-genome sequences. Mutational processes molding the genomes of 21 breast cancers. Signatures of mutational processes in human cancer. GISTIC2.0 facilitates sensitive and confident localization of the targets of focal somatic copy-number alteration in human cancers.
Genome Alteration Print (GAP): a tool to visualize and mine complex cancer genomic profiles obtained by SNP arrays. Whole genomes redefine the mutational landscape of pancreatic cancer. Genomic catastrophes frequently arise in esophageal adenocarcinoma and drive tumorigenesis. qpure: A tool to estimate tumor cellularity from genome-wide single-nucleotide polymorphism profiles. Loss of DAXX and ATRX are associated with chromosome instability and reduced survival of patients with pancreatic neuroendocrine tumors. Altered telomeres in tumors with ATRX and DAXX mutations. Mutation-targeted therapy with sunitinib or everolimus in patients with advanced low-grade or intermediate-grade neuroendocrine tumours of the gastrointestinal tract and pancreas with or without cytoreductive surgery: protocol for a phase II clinical trial. Pancreatic endocrine tumors: expression profiling evidences a role for AKT-mTOR pathway. DAXX/ATRX, MEN1, and mTOR pathway genes are frequently altered in pancreatic neuroendocrine tumors. MEN1 in pancreatic endocrine tumors: analysis of gene and protein status in 169 sporadic neoplasms reveals alterations in the vast majority of cases. WHO Classification of Tumours of the Digestive System 4th edn (International Agency for Research on Cancer, 2010)Ĭorbo, V. In addition, our gene expression analyses identified a subgroup of tumours associated with hypoxia and HIF signalling.īosman, F. Somatic mutations, including point mutations and gene fusions, were commonly found in genes involved in four main pathways: chromatin remodelling, DNA damage repair, activation of mTOR signalling (including previously undescribed EWSR1 gene fusions), and telomere maintenance. Together with mutations in MEN1 and VHL, these mutations occur in 17% of patients. Clinically sporadic PanNETs contain a larger-than-expected proportion of germline mutations, including previously unreported mutations in the DNA repair genes MUTYH, CHEK2 and BRCA2. Here we describe the mutational signatures they harbour, including a deficiency in G:C > T:A base excision repair due to inactivation of MUTYH, which encodes a DNA glycosylase. We performed whole-genome sequencing of 102 primary PanNETs and defined the genomic events that characterize their pathogenesis. The diagnosis of pancreatic neuroendocrine tumours (PanNETs) is increasing owing to more sensitive detection methods, and this increase is creating challenges for clinical management. Nature volume 543, pages 65–71 ( 2017) Cite this article Australian Pancreatic Cancer Genome Initiative,.
Whole-genome landscape of pancreatic neuroendocrine tumours
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