Evidence map›Paper›PMID 28551381›Full record

ArticleEBioMedicine2017

A Specific Mutational Signature Associated with DNA 8-Oxoguanine Persistence in MUTYH-defective Colorectal Cancer.

Alessandra Viel, Alessandro Bruselles, Ettore Meccia, Mara Fornasarig, Michele Quaia, Vincenzo Canzonieri, Eleonora Policicchio, Emanuele Damiano Urso, Marco Agostini, Maurizio Genuardi and 15 more

Abstract read
In one paragraph

Article in EBioMedicine, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 145 papers.

0numbers the graph read from it
0cells of the map it votes in
145citing papers in PubMed
–field-weighted citation impact
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

145 citing papers in PubMed.

  1. Article
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  7. Review
  8. Topographical archetypes of somatic mutagenesis in cancer.bioRxiv : the preprint server for biology · 2026
    Article
  9. Article
  10. Article
  11. Article
  12. Review
  13. Article
  14. Frequent Detection ofHuman mutation · 2026
    Article
  15. Article
  16. Article
  17. 8-Oxoguanine: A Lesion, an Epigenetic Mark, or a Molecular Signal?International journal of molecular sciences · 2025
    Review
  18. Review
  19. Review
  20. Article

85 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

25 authors.

Alessandra VielFunctional Onco-Genomics and Genetics, CRO Aviano National Cancer Institute, Aviano, Italy.
Alessandro BrusellesDepartment of Haematology, Oncology and Molecular Medicine, Istituto Superiore di Sanità, Rome, Italy.
Ettore MecciaDepartment of Environment and Primary Prevention, Istituto Superiore di Sanità, Rome, Italy.
Mara FornasarigUnit of Gastroenterology, CRO Aviano National Cancer Institute, Aviano, Italy.
Michele QuaiaFunctional Onco-Genomics and Genetics, CRO Aviano National Cancer Institute, Aviano, Italy.
Vincenzo CanzonieriUnit of Pathology, CRO Aviano National Cancer Institute, Aviano, Italy.
Eleonora PolicicchioGenetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Rome, Italy.
Emanuele Damiano UrsoFirst Surgical Clinic, Department of Surgical, Oncological and Gastroenterological Sciences, University of Padua, Padua, Italy.
Marco AgostiniFirst Surgical Clinic, Department of Surgical, Oncological and Gastroenterological Sciences, University of Padua, Padua, Italy; Nano Insperid Biomedicine Lab, Istituto di Ricerca Pediatrica (IRP) Padua, Italy.
Maurizio GenuardiInstitute of Genomic Medicine, Catholic University, Rome, Italy; Fondazione Policlinico Universitario "A. Gemelli, Rome, Italy.
Emanuela Lucci-CordiscoInstitute of Genomic Medicine, Catholic University, Rome, Italy.
Tiziana VenesioUnit of Pathology, Candiolo Cancer Institute-FPO, IRCCS, Candiolo, Turin, Italy.
Aline MartayanDivision of Gastroenterology and Digestive Endoscopy, Regina Elena National Cancer Institute, Rome, Italy.
Maria Grazia DiodoroDivision of Gastroenterology and Digestive Endoscopy, Regina Elena National Cancer Institute, Rome, Italy.
Lupe Sanchez-MeteDivision of Gastroenterology and Digestive Endoscopy, Regina Elena National Cancer Institute, Rome, Italy.
Vittoria StiglianoDivision of Gastroenterology and Digestive Endoscopy, Regina Elena National Cancer Institute, Rome, Italy.
Filomena MazzeiDepartment of Environment and Primary Prevention, Istituto Superiore di Sanità, Rome, Italy.
Francesca GrassoDepartment of Environment and Primary Prevention, Istituto Superiore di Sanità, Rome, Italy.
Alessandro GiulianiDepartment of Environment and Primary Prevention, Istituto Superiore di Sanità, Rome, Italy.
Marta BaiocchiDepartment of Haematology, Oncology and Molecular Medicine, Istituto Superiore di Sanità, Rome, Italy.
Roberta MaestroFunctional Onco-Genomics and Genetics, CRO Aviano National Cancer Institute, Aviano, Italy.
Giuseppe GianniniDepartment of Molecular Medicine, University La Sapienza, Rome, Italy.
Marco TartagliaGenetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Rome, Italy.
Ludmil B AlexandrovTheoretical Biology and Biophysics, Los Alamos National Laboratory, Los Alamos, NM, USA; Center for Nonlinear Studies, Los Alamos National Laboratory, Los Alamos, NM, USA; University of New Mexico Comprehensive Cancer Center, Albuquerque, NM 87102, USA.
Margherita BignamiDepartment of Environment and Primary Prevention, Istituto Superiore di Sanità, Rome, Italy. Electronic address: margherita.bignami@gmail.com.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

8-Oxoguanine, a common mutagenic DNA lesion, generates G:C>T:A transversions via mispairing with adenine during DNA replication. When operating normally, the MUTYH DNA glycosylase prevents 8-oxoguanine-related mutagenesis by excising the incorporated adenine. Biallelic MUTYH mutations impair this enzymatic function and are associated with colorectal cancer (CRC) in MUTYH-Associated Polyposis (MAP) syndrome. Here, we perform whole-exome sequencing that reveals a modest mutator phenotype in MAP CRCs compared to sporadic CRC stem cell lines or bulk tumours. The excess G:C>T:A transversion mutations in MAP CRCs exhibits a novel mutational signature, termed Signature 36, with a strong sequence dependence. The MUTYH mutational signature reflecting persistent 8-oxoG:A mismatches occurs frequently in the APC, KRAS, PIK3CA, FAT4, TP53, FAT1, AMER1, KDM6A, SMAD4 and SMAD2 genes that are associated with CRC. The occurrence of Signature 36 in other types of human cancer indicates that DNA 8-oxoguanine-related mutations might contribute to the development of cancer in other organs.

Indexed as

DNA DamageAllelesColorectal NeoplasmsDNA GlycosylasesDNA Mutational AnalysisDNA RepairExome SequencingGene FrequencyGenes, Tumor SuppressorGenetic Association StudiesGenetic Predisposition to DiseaseGuanineHumansMicrosatellite InstabilityMutationMutation Rate8-hydroxyguanineDNA GlycosylasesGuaninemutY adenine glycosylase8-OxoguanineBase excision repairColorectal cancerExome sequencingMutational signatureMUTYH-associated polyposis

Identifiers

PMID28551381
PMCPMC5478212

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Registered trials

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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.