Evidence map›Paper›PMID 25261935›Full record

ArticleNature genetics2014

Genome-wide analysis of noncoding regulatory mutations in cancer.

Nils Weinhold, Anders Jacobsen, Nikolaus Schultz, Chris Sander, William Lee

Open access · greenAbstract read
In one paragraph

Article in Nature genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 321 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
321citing papers in PubMed, 1 pooled it
21.5field-weighted citation impact, top 1% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

321 citing papers in PubMed, 1 synthesis or guideline pooled it, 518 citations in OpenAlex.

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261 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

5 authors at 1 institution in 1 country.

Nils WeinholdComputational Biology Program, Memorial Sloan Kettering Cancer Center, New York, New York, USA.
Anders Jacobsen1] Computational Biology Program, Memorial Sloan Kettering Cancer Center, New York, New York, USA. [2] Section for Computational and RNA Biology, Department of Biology, University of Copenhagen, Copenhagen, Denmark.
Nikolaus SchultzComputational Biology Program, Memorial Sloan Kettering Cancer Center, New York, New York, USA.
Chris SanderComputational Biology Program, Memorial Sloan Kettering Cancer Center, New York, New York, USA.
William Lee1] Computational Biology Program, Memorial Sloan Kettering Cancer Center, New York, New York, USA. [2] Department of Radiation Oncology, Memorial Sloan Kettering Cancer Center, New York, New York, USA.ORCID 0000000195824413
Memorial Sloan Kettering Cancer Center · US

Funding

X-RAY CRYSTALLOGRAPHYP30CA008748 · NCI · SLOAN-KETTERING INSTITUTE FOR CANCER RES · PI Nicholas D Socci · 1985 to 2026
$347.4M
MSKCC Center for Translational Cancer Genomic AnalysisU24CA143840 · NCI · SLOAN-KETTERING INST CAN RESEARCH · PI LADANYI, MARC, SANDER, CHRIS · 2009 to 2016
$11.5M
NCI NIH HHS P30 CA008748NCI NIH HHS U24 CA143840NCI NIH HHS U24-CA143840
6 · The paper itself

Abstract

Cancer primarily develops because of somatic alterations in the genome. Advances in sequencing have enabled large-scale sequencing studies across many tumor types, emphasizing the discovery of alterations in protein-coding genes. However, the protein-coding exome comprises less than 2% of the human genome. Here we analyze the complete genome sequences of 863 human tumors from The Cancer Genome Atlas and other sources to systematically identify noncoding regions that are recurrently mutated in cancer. We use new frequency- and sequence-based approaches to comprehensively scan the genome for noncoding mutations with potential regulatory impact. These methods identify recurrent mutations in regulatory elements upstream of PLEKHS1, WDR74 and SDHD, as well as previously identified mutations in the TERT promoter. SDHD promoter mutations are frequent in melanoma and are associated with reduced gene expression and poor prognosis. The non-protein-coding cancer genome remains widely unexplored, and our findings represent a step toward targeting the entire genome for clinical purposes.

Indexed as

Computational BiologyGene Expression ProfilingGene Expression Regulation, NeoplasticGenomicsHumansMolecular Sequence AnnotationMutationNeoplasmsRegulatory Elements, TranscriptionalSuccinate DehydrogenaseTelomeraseSDHD protein, humanSuccinate DehydrogenaseTelomeraseTERT protein, human

Identifiers

PMID25261935
PMCPMC4217527
OpenAlexW1995837988

What OpenQuestion holds

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Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.