Comparative Molecular Analysis of Gastrointestinal Adenocarcinomas.
Comparative Molecular Analysis of Gastrointestinal Adenocarcinomas.
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DOI：
10.1016/j.ccell.2018.03.010
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发表时间：
2018-04-09
期刊：
影响因子：
50.3
通讯作者：
Laird PW
中科院分区：
文献类型：
--
作者：
Liu Y;Sethi NS;Hinoue T;Schneider BG;Cherniack AD;Sanchez-Vega F;Seoane JA;Farshidfar F;Bowlby R;Islam M;Kim J;Chatila W;Akbani R;Kanchi RS;Rabkin CS;Willis JE;Wang KK;McCall SJ;Mishra L;Ojesina AI;Bullman S;Pedamallu CS;Lazar AJ;Sakai R;Cancer Genome Atlas Research Network;Thorsson V;Bass AJ;Laird PW
我们分析了921例食管、胃、结肠和直肠腺癌，以研究胃肠道腺癌（GIAC）的共同和区别性分子特征。无论癌症类型如何，高突变（HM）肿瘤都是不同的，包括那些富含插入/缺失的肿瘤，代表在CpG岛甲基化表型（CIMP）背景下MLH 1表观遗传沉默的微卫星不稳定性病例，加上与POLE突变相关的单核苷酸变异（HM-SNV）升高的肿瘤。具有染色体不稳定性（CIN）的肿瘤是多样的，胃食管腺癌携带与基因组加倍和不同突变特征相关的片段化基因组。我们在结肠和直肠中鉴定了一组缺乏超突变和非整倍体的肿瘤，称为基因组稳定（GS），并富含DNA超甲基化和KRAS，SOX 9和PCBP 1突变。Liu等人分析了921例胃肠道（GI）腺癌，发现高度突变的肿瘤富含插入/缺失，染色体不稳定的上GI肿瘤含有片段化基因组，一组基因组稳定的结直肠肿瘤富含SOX 9和PCBP 1突变。
We analyzed 921 adenocarcinomas of esophagus, stomach, colon and rectum to examine shared and distinguishing molecular characteristics of gastrointestinal tract adenocarcinomas (GIAC). Hypermutated (HM) tumors were distinct regardless of cancer type and comprised those enriched for insertions/deletions, representing microsatellite instability cases with epigenetic silencing of MLH1 in the context of CpG Island Methylator Phenotype (CIMP), plus tumors with elevated single nucleotide variants (HM-SNV) associated with mutations in POLE. Tumors with chromosomal instability (CIN) were diverse, with gastroesophageal adenocarcinomas harboring fragmented genomes associated with genomic doubling and distinct mutational signatures. We identified a group of tumors in the colon and rectum lacking hypermutation and aneuploidy termed Genome Stable (GS) and enriched in DNA hypermethylation and mutations in KRAS, SOX9 and PCBP1. Liu et al. analyze 921 gastrointestinal (GI) tract adenocarcinomas and find that hypermutated tumors are enriched for insertions/deletions, upper GI tumors with chromosomal instability harbor fragmented genomes, and a group of genome stable colorectal tumors are enriched in mutations in SOX9 and PCBP1.
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影响因子：
64.8
作者：
通讯作者：
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遗传对人体组织基因表达的影响。
影响因子：
64.8
作者：
GTEx Consortium;Laboratory, Data Analysis &Coordinating Center (LDACC)—Analysis Working Group;Statistical Methods groups—Analysis Working Group;Enhancing GTEx (eGTEx) groups;NIH Common Fund;NIH/NCI;NIH/NHGRI;NIH/NIMH;NIH/NIDA;Biospecimen Collection Source Site—NDRI;Biospecimen Collection Source Site—RPCI;Biospecimen Core Resource—VARI;Brain Bank Repository—University of Miami Brain Endowment Bank;Leidos Biomedical—Project Management;ELSI Study;Genome Browser Data Integration &Visualization—EBI;Genome Browser Data Integration &Visualization—UCSC Genomics Institute, University of California Santa Cruz;Lead analysts:;Laboratory, Data Analysis &Coordinating Center (LDACC):;NIH program management:;Biospecimen collection:;Pathology:;eQTL manuscript working group:;Battle A;Brown CD;Engelhardt BE;Montgomery SB
通讯作者：
Montgomery SB
影响因子：
8
作者：
Chan, TL;Curtis, LC;Yuen, ST
通讯作者：
Yuen, ST
DOI：
10.1093/bioinformatics/btu558
发表时间：
2014-12-01
期刊：
Bioinformatics (Oxford, England)
影响因子：
--
作者：
Chu J;Sadeghi S;Raymond A;Jackman SD;Nip KM;Mar R;Mohamadi H;Butterfield YS;Robertson AG;Birol I
通讯作者：
Birol I
影响因子：
--
作者：
Derks S;Liao X;Chiaravalli AM;Xu X;Camargo MC;Solcia E;Sessa F;Fleitas T;Freeman GJ;Rodig SJ;Rabkin CS;Bass AJ
通讯作者：
Bass AJ