Evidence map›Paper›PMID 20522424›Full record

ArticleJournal of medical genetics2010

Colorectal adenomas and cancer link to chromosome 13q22.1-13q31.3 in a large family with excess colorectal cancer.

Deborah W Neklason, Thérèse M Tuohy, Jeffery Stevens, Brith Otterud, Lisa Baird, Richard A Kerber, Wade S Samowitz, Scott K Kuwada, Mark F Leppert, Randall W Burt

Open access · greenAbstract read
In one paragraph

Article in Journal of medical genetics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.

0numbers the graph read from it
0cells of the map it votes in
8citing 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

8 citing papers in PubMed, 15 citations in OpenAlex.

  1. Article
  2. Familial Colorectal Cancer Type X.Current genomics · 2017
    Review
  3. Article
  4. Article
  5. Review
  6. Article
  7. Article
  8. 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

10 authors at 2 institutions in 1 country.

Deborah W NeklasonDepartment of Oncological Sciences, University of Utah, Salt Lake City, Utah, USA. deb.neklason@hci.utah.edu
Thérèse M Tuohy
Jeffery Stevens
Brith Otterud
Lisa Baird
Richard A Kerber
Wade S Samowitz
Scott K Kuwada
Mark F Leppert
Randall W Burt
University of Utah · USHuntsman Cancer Institute · US

Funding

UTAH REGIONAL CANCER CENTERP30CA042014 · NCI · UTAH STATE HIGHER EDUCATION SYSTEM--UNIVERSITY OF UTAH · PI Jared P Rutter · 1986 to 2026
$72.6M
TCF/LEF function during intestinal maintenance and colon tumorigenesisP01CA073992 · NCI · UNIVERSITY OF UTAH · PI CAPECCHI, MARIO R · 1998 to 2014
$29.7M
VIRAL DAMAGE TO BRAIN AND NEUROMUSCULAR SYSTEMM01RR000064 · NCRR · UNIVERSITY OF UTAH · PI SWOBODA, KATHRYN J. · 1985 to 2008
$21.7M
INHERITANCE OF DISCRETE COLORECTAL ADENOMATOUS POLYPSR01CA040641 · NCI · UNIVERSITY OF UTAH · PI BURT, RANDALL WALTER · 1985 to 2007
$2.5M
SURVEILLANCE EPIDEMIOLOGY &END RESULTS PROGRAMN01PC067000 · PC · UNIVERSITY OF UTAH · PI WIGGINS, CHARLES L · 1996 to 2000
$1.3M
NCI NIH HHS N01 PC035141NCI NIH HHS N01-PC-35141NCI NIH HHS N01-PC-67000NCI NIH HHS P01 CA073992NCI NIH HHS P01-CA73992NCI NIH HHS P30 CA042014NCI NIH HHS P30-CA42014NCI NIH HHS R01 CA040641NCI NIH HHS R01-CA40641NCRR NIH HHS M01 RR000064NCRR NIH HHS M01-RR00064
6 · The paper itself

Abstract

backgroundColorectal cancer is the fourth most common type of cancer and the second most common cause of cancer death. Fewer than 5% of colon cancers arise in the presence of a clear hereditary cancer condition; however, current estimates suggest that an additional 15-25% of colorectal cancers arise on the basis of unknown inherited factors.

aimTo identify additional genetic factors responsible for colon cancer.

methodsA large kindred with excess colorectal cancer was identified through the Utah Population Database and evaluated clinically and genetically for inherited susceptibility.

resultsA major genetic locus segregating with colonic polyps and cancer in this kindred was identified on chromosome 13q with a non-parametric linkage score of 24 (LOD score of 2.99 and p=0.001). The genetic region spans 21 Mbp and contains 27 RefSeq genes. Sequencing of all candidate genes in this region failed to identify a clearly deleterious mutation; however, polymorphisms segregating with the phenotype were identified. Chromosome 13q is commonly gained and overexpressed in colon cancers and correlates with metastasis, suggesting the presence of an important cancer progression gene. Evaluation of tumours from the kindred revealed a gain of 13q as well.

conclusionsThis identified region may contain a novel gene responsible for colon cancer progression in a significant proportion of sporadic cancers. Identification of the precise gene and causative genetic change in the kindred will be an important next step to understanding cancer progression and metastasis.

Indexed as

AdenomaAdultAgedAged, 80 and overChromosome MappingChromosomes, Human, Pair 13Colorectal NeoplasmsDatabases, GeneticFamilyGenetic LinkageGenetic MarkersHaplotypesHumansMiddle AgedPedigreePhenotypeGenetic Markers

Identifiers

PMID20522424
PMCPMC3050714
OpenAlexW1997926469

What OpenQuestion holds

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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.