Evidence map›Paper›PMID 22675446›Full record

ArticlePloS one2012

Colorectal cancer linkage on chromosomes 4q21, 8q13, 12q24, and 15q22.

Mine S Cicek, Julie M Cunningham, Brooke L Fridley, Daniel J Serie, William R Bamlet, Brenda Diergaarde, Robert W Haile, Loic Le Marchand, Theodore G Krontiris, H Banfield Younghusband and 24 more

Erratum issuedOpen access · goldAbstract read
In one paragraph

Article in PloS one, 2012. 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
2.4field-weighted citation impact, top 12% 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, 26 citations in OpenAlex.

  1. Trial
  2. Review
  3. Article
  4. Review
  5. Article
  6. Article
  7. Cohort Profile: The Colon Cancer Family Registry Cohort (CCFRC).International journal of epidemiology · 2018
    Article
  8. Article
  9. Article
  10. Article
  11. Article
  12. Article
  13. Article
  14. Whole-exome sequencing identifies rare pathogenic variants in new predisposition genes for familial colorectal cancer.Genetics in medicine : official journal of the American College of Medical Genetics · 2015
    Article
  15. Familial colorectal cancer, beyond Lynch syndrome.Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association · 2014
    Review
  16. Article
  17. Review
  18. Identification of novel variants in colorectal cancer families by high-throughput exome sequencing.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2013
    Article
  19. Article
  20. A variable age of onset segregation model for linkage analysis, with correction for ascertainment, applied to glioma.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2012
    Article
4 · The record

Corrections and comments

  • Erratum issued
5 · Who and what money

Authors and funding

34 authors at 16 institutions in 5 countries.

Mine S CicekDepartment of Health Sciences Research, Mayo Clinic College of Medicine, Rochester, Minnesota, United States of America.
Julie M Cunningham
Brooke L Fridley
Daniel J Serie
William R Bamlet
Brenda Diergaarde
Robert W Haile
Loic Le Marchand
Theodore G Krontiris
H Banfield Younghusband
Steven Gallinger
Polly A Newcomb
John L Hopper
Mark A Jenkins
Graham Casey
Fredrick Schumacher
Zhu Chen
Melissa S DeRycke
Allyson S Templeton
Ingrid Winship
Roger C Green
Jane S Green
Finlay A Macrae
Susan Parry
Graeme P Young
Joanne P Young
Daniel Buchanan
Duncan C Thomas
D Timothy Bishop
Noralane M Lindor
Stephen N Thibodeau
John D Potter
Ellen L Goode
Colon CFR
Mayo Clinic · USFred Hutch Cancer Center · USMelbourne Health · AUMemorial University of Newfoundland · CASouthern California University for Professional Studies · USMayo Clinic in Florida · USQIMR Berghofer Medical Research Institute · AUUniversity of Southern California · USAuckland City Hospital · NZCity of Hope · USFlinders University · AUThe University of Melbourne · AUUniversity of Hawaiʻi at Mānoa · USUniversity of Leeds · GBUniversity of Pittsburgh · USUniversity of Toronto · CA

Funding

Translational Bioimaging Core Shared ResourceP30CA015704 · NCI · FRED HUTCHINSON CANCER RESEARCH CENTER · PI Marian Esvelt · 1985 to 2026
$296.4M
USC Consortium:Colorectal Cancer Family RegistryU01CA074799 · NCI · UNIVERSITY OF SOUTHERN CALIFORNIA · PI HAILE, ROBERT WILLIAM · 1997 to 2008
$20.4M
SEATTLE FAMILIAL COLORECTAL CANCER REGISTRYU01CA074794 · NCI · FRED HUTCHINSON CANCER RESEARCH CENTER · PI NEWCOMB, POLLY A · 1997 to 2007
$14.1M
ONTARIO REGISTRY FOR STUDIES OF FAMILIAL COLON CANCERU01CA074783 · NCI · CANCER CARE ONTARIO · PI GALLINGER, STEVEN · 1997 to 2008
$12.5M
FAMILIAL COLORECTAL NEOPLASIA COLLABORATIVE GROUPU01CA074800 · NCI · MAYO CLINIC ROCHESTER · PI LINDOR, NORALANE MOREY · 1997 to 2007
$9.1M
The Colon Cancer Family Registry: USC ConsortiumU24CA074799 · NCI · UNIVERSITY OF SOUTHERN CALIFORNIA · PI HAILE, ROBERT WILLIAM · 2008 to 2011
$7.6M
The Colon Cancer Family Registry: SeattleU24CA074794 · NCI · FRED HUTCHINSON CANCER RESEARCH CENTER · PI NEWCOMB, POLLY A · 2008 to 2011
$7.0M
AUSTRALASIAN COLORECTAL CANCER FAMILY REGISTRYU01CA097735 · NCI · UNIVERSITY OF MELBOURNE · PI HOPPER, JOHN L · 2002 to 2007
$6.9M
The Colon Cancer Family Registry: AustralasiaU24CA097735 · NCI · UNIVERSITY OF MELBOURNE · PI HOPPER, JOHN L · 2008 to 2011
$6.2M
HAWAII FAMILY REGISTRY OF COLON CANCERU01CA074806 · NCI · UNIVERSITY OF HAWAII AT MANOA · PI LE MARCHAND, LOIC · 1997 to 2008
$6.1M
Mayo Cancer Genetic Epidemiology Training ProgramR25CA092049 · NCI · MAYO CLINIC ROCHESTER · PI PETERSEN, GLORIA M., VACHON, CELINE M · 2001 to 2018
$5.3M
The Familial Colorectal Neoplasia Collaborative GroupU24CA074800 · NCI · MAYO CLINIC ROCHESTER · PI LINDOR, NORALANE MOREY, THIBODEAU, STEPHEN NORMAN · 2008 to 2011
$5.3M
Cancer Research UK 10589NCI NIH HHS P30 CA015704NCI NIH HHS R01 CA104667NCI NIH HHS R01-CA104667NCI NIH HHS R25 CA092049NCI NIH HHS U01 CA074783NCI NIH HHS U01 CA074794NCI NIH HHS U01 CA074799NCI NIH HHS U01 CA074800NCI NIH HHS U01 CA074806NCI NIH HHS U01 CA078296NCI NIH HHS U01 CA097735NCI NIH HHS U24 CA074783NCI NIH HHS U24 CA074794NCI NIH HHS U24 CA074799NCI NIH HHS U24 CA074800NCI NIH HHS U24 CA074806NCI NIH HHS U24 CA097735NIEHS NIH HHS R01 ES019876
6 · The paper itself

Abstract

A substantial proportion of familial colorectal cancer (CRC) is not a consequence of known susceptibility loci, such as mismatch repair (MMR) genes, supporting the existence of additional loci. To identify novel CRC loci, we conducted a genome-wide linkage scan in 356 white families with no evidence of defective MMR (i.e., no loss of tumor expression of MMR proteins, no microsatellite instability (MSI)-high tumors, or no evidence of linkage to MMR genes). Families were ascertained via the Colon Cancer Family Registry multi-site NCI-supported consortium (Colon CFR), the City of Hope Comprehensive Cancer Center, and Memorial University of Newfoundland. A total of 1,612 individuals (average 5.0 per family including 2.2 affected) were genotyped using genome-wide single nucleotide polymorphism linkage arrays; parametric and non-parametric linkage analysis used MERLIN in a priori-defined family groups. Five lod scores greater than 3.0 were observed assuming heterogeneity. The greatest were among families with mean age of diagnosis less than 50 years at 4q21.1 (dominant HLOD = 4.51, α = 0.84, 145.40 cM, rs10518142) and among all families at 12q24.32 (dominant HLOD = 3.60, α = 0.48, 285.15 cM, rs952093). Among families with four or more affected individuals and among clinic-based families, a common peak was observed at 15q22.31 (101.40 cM, rs1477798; dominant HLOD = 3.07, α = 0.29; dominant HLOD = 3.03, α = 0.32, respectively). Analysis of families with only two affected individuals yielded a peak at 8q13.2 (recessive HLOD = 3.02, α = 0.51, 132.52 cM, rs1319036). These previously unreported linkage peaks demonstrate the continued utility of family-based data in complex traits and suggest that new CRC risk alleles remain to be elucidated.

Indexed as

Chromosome MappingGenetic LinkageAdultAgedChromosomes, Human, Pair 12Chromosomes, Human, Pair 15Chromosomes, Human, Pair 4Chromosomes, Human, Pair 8Colorectal NeoplasmsDNA Mismatch RepairFamilyGenetic Predisposition to DiseaseGenotypeHumansLod ScoreMiddle Aged

Identifiers

PMID22675446
PMCPMC3364975
OpenAlexW2002630715

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.