Evidence map›Paper›PMID 26909336›Full record

ArticleMeta gene2016

Copy number variants associated with 18p11.32, DCC and the promoter 1B region of APC in colorectal polyposis patients.

Amy L Masson, Bente A Talseth-Palmer, Tiffany-Jane Evans, Patrick McElduff, Allan D Spigelman, Garry N Hannan, Rodney J Scott

Open access · hybridAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Meta gene, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
0.9field-weighted citation impact, top 25% 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

6 citing papers in PubMed, 9 citations in OpenAlex.

  1. Analysis ofFrontiers in oncology · 2026
    Article
  2. Review
  3. MicroRNAs in Genetic Etiology of Human Diseases.Methods in molecular biology (Clifton, N.J.) · 2022
    Article
  4. Article
  5. Article
  6. Article
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

7 authors at 5 institutions in 1 country.

Amy L MassonCentre for Information-Based Medicine, Hunter Medical Research Institute, University of Newcastle, Newcastle, New South Wales, 2305, Australia; School of Biomedical Sciences and Pharmacy, Faculty of Health and Medicine, University of Newcastle, New South Wales, 2308, Australia.
Bente A Talseth-PalmerCentre for Information-Based Medicine, Hunter Medical Research Institute, University of Newcastle, Newcastle, New South Wales, 2305, Australia; School of Biomedical Sciences and Pharmacy, Faculty of Health and Medicine, University of Newcastle, New South Wales, 2308, Australia.
Tiffany-Jane EvansCentre for Information-Based Medicine, Hunter Medical Research Institute, University of Newcastle, Newcastle, New South Wales, 2305, Australia; School of Biomedical Sciences and Pharmacy, Faculty of Health and Medicine, University of Newcastle, New South Wales, 2308, Australia.
Patrick McElduffCentre for Public Health, Hunter Medical Research Institute, University of Newcastle, Newcastle, New South Wales, 2305, Australia; School of Medicine and Public Health, Faculty of Health and Medicine, University of Newcastle, New South Wales, 2308, Australia.
Allan D SpigelmanHunter Family Cancer Service, Hunter New England Area Health, Newcastle, New South Wales, 2305, Australia; University of NSW, St Vincent's Hospital Clinical School, Sydney, New South Wales, 2010, Australia; Hereditary Cancer Clinic, St Vincent's Hospital, The Kinghorn Cancer Centre, Sydney, New South Wales, 2010, Australia.
Garry N HannanCSIRO Food and Nutrition Flagship, North Ryde, New South Wales, 2113, Australia.
Rodney J ScottCentre for Information-Based Medicine, Hunter Medical Research Institute, University of Newcastle, Newcastle, New South Wales, 2305, Australia; School of Biomedical Sciences and Pharmacy, Faculty of Health and Medicine, University of Newcastle, New South Wales, 2308, Australia; Division of Molecular Medicine, Hunter Area Pathology Service, John Hunter Hospital, Newcastle, New South Wales, 2305, Australia.
Hunter Medical Research Institute · AUCommonwealth Scientific and Industrial Research Organisation · AUJohn Hunter Hospital · AUSt Vincent's Hospital · AUUniversity of Newcastle Australia · AU

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Familial Adenomatous Polyposis (FAP) is the second most common inherited predisposition to colorectal cancer (CRC) associated with the development of hundreds to thousands of adenomas in the colon and rectum. Mutations in APC are found in ~ 80% polyposis patients with FAP. In the remaining 20% no genetic diagnosis can be provided suggesting other genes or mechanisms that render APC inactive may be responsible. Copy number variants (CNVs) remain to be investigated in FAP and may account for disease in a proportion of polyposis patients. A cohort of 56 polyposis patients and 40 controls were screened for CNVs using the 2.7M microarray (Affymetrix) with data analysed using ChAS (Affymetrix). A total of 142 CNVs were identified unique to the polyposis cohort suggesting their involvement in CRC risk. We specifically identified CNVs in four unrelated polyposis patients among CRC susceptibility genes APC, DCC, MLH1 and CTNNB1 which are likely to have contributed to disease development in these patients. A recurrent deletion was observed at position 18p11.32 in 9% of the patients screened that was of particular interest. Further investigation is necessary to fully understand the role of these variants in CRC risk given the high prevalence among the patients screened.

Indexed as

ALL, acute lymphoblastic leukaemiaBH, Bengamini and HochbergCancerCHAS, Chromosome Analysis SuiteCN, copy numberCNVCNV, copy number variationCOSMIC, Catalogue of Somatic Mutations in CancerCRC, colorectal cancerDGV, Database of genomic variantsdiagnostic testingDNA, deoxyribose nucleic acidFAP, familial adenomatous polyposisHMDD, human microRNA disease databaseKb, kilobaseKEGG, Kyoto Encyclopaedia of Genes and GenomeslncRNA, link RNALOH, loss of heterozygositylong non-coding RNAsmapd, median absolute pairwise differencemiR, microRNAMLPA, multiplex ligation-dependant probe amplificationMMR, mismatch repairng, nanogramNTC, no template controlpolyposisQC, quality controlRNA, ribose nucleic acidSNP, single nucleotide polymorphismTAM, Tool for the annotation of microRNAsTCGA, The Cancer Genome AtlasUCSC, University of California, Santa Cruz

Identifiers

PMID26909336
PMCPMC4733217
OpenAlexW2205230105

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.