Literature DB >> 27727438

COSMIC: High-Resolution Cancer Genetics Using the Catalogue of Somatic Mutations in Cancer.

S A Forbes1, D Beare1, N Bindal1, S Bamford1, S Ward1, C G Cole1, M Jia1, C Kok1, H Boutselakis1, T De1, Z Sondka1, L Ponting1, R Stefancsik1, B Harsha1, J Tate1, E Dawson1, S Thompson1, H Jubb1, P J Campbell1.   

Abstract

COSMIC (http://cancer.sanger.ac.uk) is an expert-curated database of somatic mutations in human cancer. Broad and comprehensive in scope, recent releases in 2016 describe over 4 million coding mutations across all human cancer disease types. Mutations are annotated across the entire genome, but expert curation is focused on over 400 key cancer genes. Now encompassing the majority of molecular mutation mechanisms in oncogenetics, COSMIC additionally describes 10 million non-coding mutations, 1 million copy-number aberrations, 9 million gene-expression variants, and almost 8 million differentially methylated CpGs. This information combines a consistent interpretation of the data from the major cancer genome consortia and cancer genome literature with exhaustive hand curation of over 22,000 gene-specific literature publications. This unit describes the graphical Web site in detail; alternative protocols overview other ways the entire database can be accessed, analyzed, and downloaded. © 2016 by John Wiley & Sons, Inc.
Copyright © 2016 John Wiley & Sons, Inc.

Entities:  

Keywords:  COSMIC; cancer; database; genetics; genomics; mutation; somatic

Mesh:

Year:  2016        PMID: 27727438     DOI: 10.1002/cphg.21

Source DB:  PubMed          Journal:  Curr Protoc Hum Genet        ISSN: 1934-8258


  56 in total

1.  Crystal structure of heme A synthase from Bacillus subtilis.

Authors:  Satomi Niwa; Kazuki Takeda; Masayuki Kosugi; Erika Tsutsumi; Tatsushi Mogi; Kunio Miki
Journal:  Proc Natl Acad Sci U S A       Date:  2018-11-05       Impact factor: 11.205

2.  Landscape analysis of adjacent gene rearrangements reveals BCL2L14-ETV6 gene fusions in more aggressive triple-negative breast cancer.

Authors:  Sanghoon Lee; Yiheng Hu; Suet Kee Loo; Ying Tan; Rohit Bhargava; Michael T Lewis; Xiao-Song Wang
Journal:  Proc Natl Acad Sci U S A       Date:  2020-04-22       Impact factor: 11.205

3.  Glycogen synthase kinase-3 beta inhibitors as novel cancer treatments and modulators of antitumor immune responses.

Authors:  Ilyas Sahin; Aditya Eturi; Andre De Souza; Sahithi Pamarthy; Fabio Tavora; Francis J Giles; Benedito A Carneiro
Journal:  Cancer Biol Ther       Date:  2019-04-12       Impact factor: 4.742

Review 4.  Emerging Roles of Urine-Based Tumor DNA Analysis in Bladder Cancer Management.

Authors:  Aadel A Chaudhuri; Bruna Pellini; Nadja Pejovic; Pradeep S Chauhan; Peter K Harris; Jeffrey J Szymanski; Zachary L Smith; Vivek K Arora
Journal:  JCO Precis Oncol       Date:  2020-07-15

5.  Docking protein-1 promotes inflammatory macrophage signaling in gastric cancer.

Authors:  Tong Li; Beifang Li; Asgharpour Sara; Christine Ay; Wing Yan Leung; Yanquan Zhang; Yujuan Dong; Qiaoyi Liang; Xiang Zhang; Philip Weidner; Tobias Gutting; Hans-Michael Behrens; Christoph Röcken; Joseph Jy Sung; Matthias P Ebert; Jun Yu; Elke Burgermeister
Journal:  Oncoimmunology       Date:  2019-08-21       Impact factor: 8.110

6.  Tumor somatic mutations also existing as germline polymorphisms may help to identify functional SNPs from genome-wide association studies.

Authors:  Ivan P Gorlov; Xiangjun Xia; Spiridon Tsavachidis; Olga Y Gorlova; Christopher I Amos
Journal:  Carcinogenesis       Date:  2020-10-15       Impact factor: 4.944

7.  Endogenous CD4+ T Cells Recognize Neoantigens in Lung Cancer Patients, Including Recurrent Oncogenic KRAS and ERBB2 (Her2) Driver Mutations.

Authors:  Joshua R Veatch; Brenda L Jesernig; Julia Kargl; Matthew Fitzgibbon; Sylvia M Lee; Christina Baik; Renato Martins; A McGarry Houghton; Stanley R Riddell
Journal:  Cancer Immunol Res       Date:  2019-05-01       Impact factor: 11.151

8.  Structural variation and fusion detection using targeted sequencing data from circulating cell free DNA.

Authors:  Alexander R Gawroński; Yen-Yi Lin; Brian McConeghy; Stephane LeBihan; Hossein Asghari; Can Koçkan; Baraa Orabi; Nabil Adra; Roberto Pili; Colin C Collins; S Cenk Sahinalp; Faraz Hach
Journal:  Nucleic Acids Res       Date:  2019-04-23       Impact factor: 16.971

9.  Frequent homozygous deletions of the CDKN2A locus in somatic cancer tissues.

Authors:  Abdulaziz Hamid; Beniamin Petreaca; Ruben Petreaca
Journal:  Mutat Res       Date:  2019-04-25       Impact factor: 2.433

10.  LRRK2 deficiency impairs trans-Golgi to lysosome trafficking and endocytic cargo degradation in human renal proximal tubule epithelial cells.

Authors:  Nathan J Lanning; Calvin VanOpstall; Megan L Goodall; Jeffrey P MacKeigan; Brendan D Looyenga
Journal:  Am J Physiol Renal Physiol       Date:  2018-08-08
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