Evidence map›Paper›PMID 28892075›Full record

ArticleNature biotechnology2017

Analysis of somatic microsatellite indels identifies driver events in human tumors.

Yosef E Maruvka, Kent W Mouw, Rosa Karlic, Prasanna Parasuraman, Atanas Kamburov, Paz Polak, Nicholas J Haradhvala, Julian M Hess, Esther Rheinbay, Yehuda Brody and 8 more

Open access · greenAbstract read
In one paragraph

Article in Nature biotechnology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 95 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
95citing papers in PubMed, 1 pooled it
5.4field-weighted citation impact, top 3% 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

95 citing papers in PubMed, 1 synthesis or guideline pooled it, 137 citations in OpenAlex.

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  16. Potent therapeutic strategy in gastric cancer with microsatellite instability-high and/or deficient mismatch repair.Gastric cancer : official journal of the International Gastric Cancer Association and the Japanese Gastric Cancer Association · 2024
    Review
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35 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

18 authors at 5 institutions in 2 countries.

Yosef E MaruvkaMassachusetts General Hospital Center for Cancer Research, Charlestown, Massachusetts, USA.
Kent W MouwHarvard Medical School, Boston, Massachusetts, USA.
Rosa KarlicBioinformatics Group, Division of Molecular Biology,Department of Biology, Faculty of Science, University of Zagreb, Zagreb, Croatia.ORCID http://orcid.org/0000-0002-1291-2897
Prasanna ParasuramanMassachusetts General Hospital Center for Cancer Research, Charlestown, Massachusetts, USA.
Atanas KamburovMassachusetts General Hospital Center for Cancer Research, Charlestown, Massachusetts, USA.
Paz PolakMassachusetts General Hospital Center for Cancer Research, Charlestown, Massachusetts, USA.ORCID http://orcid.org/0000-0002-2153-4488
Nicholas J HaradhvalaMassachusetts General Hospital Center for Cancer Research, Charlestown, Massachusetts, USA.
Julian M HessBroad Institute of Harvard and MIT, Cambridge, Massachusetts, USA.
Esther RheinbayMassachusetts General Hospital Center for Cancer Research, Charlestown, Massachusetts, USA.
Yehuda BrodyBroad Institute of Harvard and MIT, Cambridge, Massachusetts, USA.
Amnon KorenDepartment of Molecular Biology and Genetics, Cornell University, Ithaca, New York, USA.
Lior Z BraunsteinMassachusetts General Hospital Center for Cancer Research, Charlestown, Massachusetts, USA.
Alan D'AndreaBroad Institute of Harvard and MIT, Cambridge, Massachusetts, USA.
Michael S LawrenceMassachusetts General Hospital Center for Cancer Research, Charlestown, Massachusetts, USA.
Adam BassBroad Institute of Harvard and MIT, Cambridge, Massachusetts, USA.
Andre BernardsMassachusetts General Hospital Center for Cancer Research, Charlestown, Massachusetts, USA.
Franziska MichorBroad Institute of Harvard and MIT, Cambridge, Massachusetts, USA.ORCID http://orcid.org/0000-0003-4869-8842
Gad GetzMassachusetts General Hospital Center for Cancer Research, Charlestown, Massachusetts, USA.ORCID http://orcid.org/0000-0002-0936-0753
Broad Institute · USMassachusetts General Hospital · USBrigham and Women's Hospital · USCornell University · USUniversity of Zagreb · HR

Funding

The Cancer Genome Atlas Data Analysis CenterU24CA143845 · NCI · BROAD INSTITUTE, INC. · PI CHIN, LYNDA, GETZ, GAD A · 2009 to 2016
$16.0M
Project 3: Single Cell Measures of Intratumor Diversity for Optimal Breast Cancer TherapyU54CA193461 · NCI · DANA-FARBER CANCER INST · PI MICHOR, FRANZISKA · 2015 to 2020
$11.2M
Investigating the effect of ERCC2 mutations on DNA repair capacity and chemo-radiotherapy response in muscle-invasive bladder cancerK08CA219504 · NCI · DANA-FARBER CANCER INST · PI MOUW, KENT W · 2017 to 2021
$885k
NCI NIH HHS U24 CA143845NCI NIH HHS U54 CA193461
6 · The paper itself

Abstract

Microsatellites (MSs) are tracts of variable-length repeats of short DNA motifs that exhibit high rates of mutation in the form of insertions or deletions (indels) of the repeated motif. Despite their prevalence, the contribution of somatic MS indels to cancer has been largely unexplored, owing to difficulties in detecting them in short-read sequencing data. Here we present two tools: MSMuTect, for accurate detection of somatic MS indels, and MSMutSig, for identification of genes containing MS indels at a higher frequency than expected by chance. Applying MSMuTect to whole-exome data from 6,747 human tumors representing 20 tumor types, we identified >1,000 previously undescribed MS indels in cancer genes. Additionally, we demonstrate that the number and pattern of MS indels can accurately distinguish microsatellite-stable tumors from tumors with microsatellite instability, thus potentially improving classification of clinically relevant subgroups. Finally, we identified seven MS indel driver hotspots: four in known cancer genes (ACVR2A, RNF43, JAK1, and MSH3) and three in genes not previously implicated as cancer drivers (ESRP1, PRDM2, and DOCK3).

Indexed as

ExomeGenes, NeoplasmHigh-Throughput Nucleotide SequencingHumansINDEL MutationMicrosatellite InstabilityMicrosatellite RepeatsMutationNeoplasmsRNA-Binding ProteinsRNA, MessengerESRP1 protein, humanRNA-Binding ProteinsRNA, Messenger

Identifiers

PMID28892075
PMCPMC9123850
OpenAlexW2756358680

What OpenQuestion holds

Textmetadata
LicenceTDM
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.