Evidence map›Paper›PMID 28926134›Full record

ArticleMolecular carcinogenesis2018

Early genetic aberrations in patients with sporadic colorectal cancer.

Brooke R Druliner, Xiaoyang Ruan, Hugues Sicotte, Daniel O'Brien, Hongfang Liu, Jean-Pierre A Kocher, Lisa Boardman

Erratum issuedOpen access · greenAbstract read
In one paragraph

Article in Molecular carcinogenesis, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 20 papers.

0numbers the graph read from it
0cells of the map it votes in
20citing papers in PubMed
1.9field-weighted citation impact, top 15% 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

20 citing papers in PubMed, 43 citations in OpenAlex.

  1. Telomere Maintenance and Oncogenesis.International journal of molecular sciences · 2025
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  6. Update on Surgical Management of FAP.Clinics in colon and rectal surgery · 2023
    Review
  7. Article
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  11. Sclonal architectures predict clinical outcome in colon adenocarcinoma.Journal of cellular and molecular medicine · 2021
    Article
  12. Article
  13. Assessment of the Role of SelectedPharmacogenomics and personalized medicine · 2021
    Article
  14. Article
  15. Article
  16. Article
  17. Review
  18. Mutation Profiling of Premalignant Colorectal Neoplasia.Gastroenterology research and practice · 2019
    Article
  19. Article
  20. Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

7 authors at 1 institution in 1 country.

Brooke R DrulinerDivision of Internal Medicine, Department of Gastroenterology and Hepatology, Mayo Clinic, Rochester, Minnesota.
Xiaoyang RuanBiomedical Statistics and Informatics, Department of Health Sciences Research, Mayo Clinic College of Medicine, Rochester, Minnesota.
Hugues SicotteBiomedical Statistics and Informatics, Department of Health Sciences Research, Mayo Clinic College of Medicine, Rochester, Minnesota.
Daniel O'BrienBiomedical Statistics and Informatics, Department of Health Sciences Research, Mayo Clinic College of Medicine, Rochester, Minnesota.
Hongfang LiuBiomedical Statistics and Informatics, Department of Health Sciences Research, Mayo Clinic College of Medicine, Rochester, Minnesota.
Jean-Pierre A KocherBiomedical Statistics and Informatics, Department of Health Sciences Research, Mayo Clinic College of Medicine, Rochester, Minnesota.
Lisa BoardmanDivision of Internal Medicine, Department of Gastroenterology and Hepatology, Mayo Clinic, Rochester, Minnesota.ORCID http://orcid.org/0000-0002-1330-2054
Mayo Clinic · US

Funding

PILOT AND FEASIBILTY PROGRAMP30DK084567 · NIDDK · MAYO CLINIC ROCHESTER · PI GREGORY J. GORES · 2009 to 2026
$22.2M
Individualizing colorectal cancer patient care using the host and tumor telomere phenotypeR01CA204013 · NCI · MAYO CLINIC ROCHESTER · PI BOARDMAN, LISA ALLYN · 2016 to 2020
$3.2M
Time lapse to cancer: defining transition from polyp to colorectal cancer (PQ14)R01CA170357 · NCI · MAYO CLINIC ROCHESTER · PI BOARDMAN, LISA ALLYN · 2012 to 2016
$2.5M
NCI NIH HHS R01 CA170357NCI NIH HHS R01 CA204013NIDDK NIH HHS P30 DK084567
6 · The paper itself

Abstract

Chromosome instability (CIN) is widely observed in both sporadic and hereditary colorectal cancer (CRC). Defects in APC and WNT signaling are primarily associated with CIN in hereditary CRC, but the genetic causes for CIN in sporadic CRC remain elusive. Using high-density SNP array and exome data from The Cancer Genome Atlas (TCGA), we characterized loss of heterozygosity (LOH) and copy number variation (CNV) in the peripheral blood, normal colon, and corresponding tumor tissue in 15 CRC patients with proficient mismatch repair (MMR) and 24 CRC patients with deficient MMR. We found a high frequency of 18q LOH in tumors and arm-specific enrichment of genetic aberrations on 18q in the normal colon (primarily copy neutral LOH) and blood (primarily copy gain). These aberrations were specific to the sporadic, pMMR CRC. Though in tumor samples genetic aberrations were observed for genes commonly mutated in hereditary CRC (eg, APC, CTNNB1, SMAD4, BRAF), none of them showed LOH or CNV in the normal colon or blood. DCC located on 18q21.1 topped the list of genes with genetic aberrations in the tumor. In an independent cohort of 13 patients subjected to Whole Genome Sequencing (WGS), we found LOH and CNV on 18q in adenomatous polyp and tumor tissues. Our data suggests that patients with sporadic CRC may have genetic aberrations preferentially enriched on 18q in their blood, normal colon epithelium, and non-malignant polyp lesions that may prove useful as a clinical marker for sporadic CRC detection and risk assessment.

Indexed as

DNA Copy Number VariationsLoss of HeterozygosityAgedAged, 80 and overChromosomal InstabilityChromosomes, Human, Pair 18Cohort StudiesColorectal NeoplasmsDNA Mismatch RepairFemaleGenotypeHumansMaleMiddle AgedMutationCNVcolorectal cancergenetic aberrationsLOHneoplastic transformation

Identifiers

PMID28926134
PMCPMC5716916
OpenAlexW2755127155

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.