Evidence map›Paper›PMID 21165777›Full record

ArticleFamilial cancer2011

Linkage to chromosome 2q32.2-q33.3 in familial serrated neoplasia (Jass syndrome).

Aedan Roberts, Derek Nancarrow, Mark Clendenning, Daniel D Buchanan, Mark A Jenkins, David Duggan, Darin Taverna, Diane McKeone, Rhiannon Walters, Michael D Walsh and 22 more

Open access · hybridAbstract read
In one paragraph

Article in Familial cancer, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.

0numbers the graph read from it
0cells of the map it votes in
12citing 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

12 citing papers in PubMed, 21 citations in OpenAlex.

  1. Trial
  2. Article
  3. Article
  4. Article
  5. Article
  6. Article
  7. Familial colorectal cancer, beyond Lynch syndrome.Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association · 2014
    Review
  8. Article
  9. Family history of colorectal cancer in BRAF p.V600E-mutated colorectal cancer cases.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2013
    Article
  10. Serrated pathway: alternative route to colorectal cancer.World journal of gastroenterology · 2013
    Review
  11. Review
  12. 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

32 authors at 18 institutions in 5 countries.

Aedan RobertsFamilial Cancer Laboratory, Queensland Institute of Medical Research, Herston, QLD 4006, Australia.
Derek Nancarrow
Mark Clendenning
Daniel D Buchanan
Mark A Jenkins
David Duggan
Darin Taverna
Diane McKeone
Rhiannon Walters
Michael D Walsh
Bruce W Young
Jeremy R Jass
Christophe Rosty
Michael Gattas
Elise Pelzer
John L Hopper
Jack Goldblatt
Jill George
Graeme K Suthers
Kerry Phillips
Susan Parry
Sonja Woodall
Julie Arnold
Kathy Tucker
Amanda Muir
Musa Drini
Finlay Macrae
Polly Newcomb
John D Potter
Erika Pavluk
Annika Lindblom
Joanne P Young
QIMR Berghofer Medical Research Institute · AUThe University of Queensland · AUAuckland City Hospital · NZFred Hutch Cancer Center · USSouth Australia Pathology · AUThe Royal Melbourne Hospital · AUThe University of Melbourne · AUTranslational Genomics Research Institute · USKarolinska Institutet · SEMiddlemore Hospital · NZPrince of Wales Hospital · AUQueensland University of Technology · AURoyal Brisbane and Women's Hospital · AURoyal Children's Hospital · AURoyal North Shore Hospital · AUServices Australia · AUSt Mark's Hospital · GBThe University of Western Australia · AU

Funding

AUSTRALASIAN COLORECTAL CANCER FAMILY REGISTRYU01CA097735 · NCI · UNIVERSITY OF MELBOURNE · PI HOPPER, JOHN L · 2002 to 2007
$6.9M
Genetics of Serrated NeoplasiaR01CA123010 · NCI · QUEENSLAND INSTITUTE OF MEDICAL RESEARCH · PI YOUNG, JOANNE PATRICIA · 2007 to 2009
$898k
NCI NIH HHS 1R01CA123010NCI NIH HHS R01 CA123010NCI NIH HHS U01 CA097735NCI NIH HHS UO1 CA097735
6 · The paper itself

Abstract

Causative genetic variants have to date been identified for only a small proportion of familial colorectal cancer (CRC). While conditions such as Familial Adenomatous Polyposis and Lynch syndrome have well defined genetic causes, the search for variants underlying the remainder of familial CRC is plagued by genetic heterogeneity. The recent identification of families with a heritable predisposition to malignancies arising through the serrated pathway (familial serrated neoplasia or Jass syndrome) provides an opportunity to study a subset of familial CRC in which heterogeneity may be greatly reduced. A genome-wide linkage screen was performed on a large family displaying a dominantly-inherited predisposition to serrated neoplasia genotyped using the Affymetrix GeneChip Human Mapping 10 K SNP Array. Parametric and nonparametric analyses were performed and resulting regions of interest, as well as previously reported CRC susceptibility loci at 3q22, 7q31 and 9q22, were followed up by finemapping in 10 serrated neoplasia families. Genome-wide linkage analysis revealed regions of interest at 2p25.2-p25.1, 2q24.3-q37.1 and 8p21.2-q12.1. Finemapping linkage and haplotype analyses identified 2q32.2-q33.3 as the region most likely to harbour linkage, with heterogeneity logarithm of the odds (HLOD) 2.09 and nonparametric linkage (NPL) score 2.36 (P = 0.004). Five primary candidate genes (CFLAR, CASP10, CASP8, FZD7 and BMPR2) were sequenced and no segregating variants identified. There was no evidence of linkage to previously reported loci on chromosomes 3, 7 and 9.

Indexed as

Chromosomes, Human, Pair 2Genetic LinkageGenetic Predisposition to DiseaseAdultAgedChromosome MappingColorectal NeoplasmsFemaleGenome-Wide Association StudyHaplotypesHumansLod ScoreMaleMiddle AgedSyndrome

Identifiers

PMID21165777
PMCPMC3100490
OpenAlexW2011454310

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
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.