Evidence map›Paper›PMID 31209717›Full record

ArticleFamilial cancer2019

Ability of known susceptibility SNPs to predict colorectal cancer risk for persons with and without a family history.

Mark A Jenkins, Aung K Win, James G Dowty, Robert J MacInnis, Enes Makalic, Daniel F Schmidt, Gillian S Dite, Mirosl Kapuscinski, Mark Clendenning, Christophe Rosty and 16 more

Open access · greenAbstract readMulticenter StudyValidation Study
In one paragraph

Article in Familial cancer, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
13citing papers in PubMed, 2 pooled it
3.5field-weighted citation impact, top 7% 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

13 citing papers in PubMed, 2 syntheses or guidelines pooled it, 28 citations in OpenAlex.

  1. Pooled it
  2. Risk Prediction Models for Colorectal Cancer Incorporating Common Genetic Variants: A Systematic Review.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2019
    Pooled it
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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

26 authors at 12 institutions in 5 countries.

Mark A JenkinsCentre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Parkville, VIC, 3010, Australia. m.jenkins@unimelb.edu.au.ORCID http://orcid.org/0000-0002-8964-6160
Aung K WinCentre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Parkville, VIC, 3010, Australia.
James G DowtyCentre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Parkville, VIC, 3010, Australia.
Robert J MacInnisCentre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Parkville, VIC, 3010, Australia.
Enes MakalicCentre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Parkville, VIC, 3010, Australia.
Daniel F SchmidtCentre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Parkville, VIC, 3010, Australia.
Gillian S DiteCentre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Parkville, VIC, 3010, Australia.
Mirosl KapuscinskiCentre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Parkville, VIC, 3010, Australia.
Mark ClendenningColorectal Oncogenomics Group, Genetic Epidemiology Laboratory, Department of Pathology, The University of Melbourne, Parkville, VIC, Australia.
Christophe RostyColorectal Oncogenomics Group, Genetic Epidemiology Laboratory, Department of Pathology, The University of Melbourne, Parkville, VIC, Australia.
Ingrid M WinshipGenetic Medicine, Royal Melbourne Hospital, Parkville, VIC, Australia.
Jon D EmeryDepartment of General Practice, Centre for Cancer Research, University of Melbourne, Parkville, VIC, Australia.
Sibel SayaDepartment of General Practice, Centre for Cancer Research, University of Melbourne, Parkville, VIC, Australia.
Finlay A MacraeGenetic Medicine, Royal Melbourne Hospital, Parkville, VIC, Australia.
Dennis J AhnenUniversity of Colorado School of Medicine, Denver, CO, USA.
David DugganOffice of the Chief Operating Officer, Translational Genomics Research Institute, Phoenix, AZ, USA.
Jane C FigueiredoSamuel Oschin Comprehensive Cancer Institute, Cedars-Sinai Medical Center, Los Angeles, CA, USA.
Noralane M LindorDepartment of Health Science Research, Mayo Clinic Arizona, Scottsdale, AZ, USA.
Robert W HaileSamuel Oschin Comprehensive Cancer Institute, Cedars-Sinai Medical Center, Los Angeles, CA, USA.
John D PotterPublic Health Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, WA, USA.
Michelle CotterchioCancer Care Ontario, Toronto, ON, Canada.
Steven GallingerLunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, University of Toronto, Toronto, ON, Canada.
Polly A NewcombPublic Health Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, WA, USA.
Daniel D BuchananCentre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Parkville, VIC, 3010, Australia.
Graham CaseyCenter for Public Health Genomics, University of Virginia, Charlottesville, VA, USA.
John L HopperCentre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Parkville, VIC, 3010, Australia.
The University of Melbourne · AUThe Royal Melbourne Hospital · AUUniversity of Washington · USCancer Care Ontario · CACedars-Sinai Medical Center · USMayo Clinic in Arizona · USMount Sinai Hospital · CAThe University of Queensland · AUTranslational Genomics Research Institute · USUniversity of Colorado Denver · USUniversity of Southern California · USUniversity of Virginia · US

Funding

Data sharing: the Colon Cancer Family Registry CohortU01CA167551 · NCI · UNIVERSITY OF MELBOURNE · PI Daniel David BUCHANAN, Steven Gallinger · 2018 to 2026
$16.8M
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
Colon Cancer Family Registry CohortUM1CA167551 · NCI · STANFORD UNIVERSITY · PI HAILE, ROBERT WILLIAM, JENKINS, MARK A · 2013 to 2017
$11.3M
Transdisciplinary Studies of Genetic Variation in Colorectal CancerU19CA148107 · NCI · UNIVERSITY OF SOUTHERN CALIFORNIA · PI GRUBER, STEPHEN B · 2010 to 2014
$11.1M
Inherited colorectal cancer risk variants: from association to biologyR01CA143237 · NCI · UNIVERSITY OF VIRGINIA · PI CASEY, GRAHAM · 2010 to 2020
$8.4M
Genomic Wide Association Study of Colorectal CancerU01CA122839 · NCI · UNIVERSITY OF SOUTHERN CALIFORNIA · PI CASEY, GRAHAM · 2006 to 2010
$7.3M
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
The Colon Cancer Family Registry: OntarioU24CA074783 · NCI · CANCER CARE ONTARIO · PI GALLINGER, STEVEN · 2008 to 2011
$4.1M
Training and Research in Colon Cancer SurvivalK05CA152715 · NCI · FRED HUTCHINSON CANCER RESEARCH CENTER · PI NEWCOMB, POLLY A · 2010 to 2019
$991k
CCR NIH HHS HHSN261201300011CNCI NIH HHS HHSN261201000121CNCI NIH HHS HHSN261201300012INCI NIH HHS HHSN261201300021CNCI NIH HHS K05 CA152715NCI NIH HHS N01 CN067009NCI NIH HHS N01 PC035142NCI NIH HHS R01 CA143237NCI NIH HHS R01 CA170122NCI NIH HHS U01 CA074783NCI NIH HHS U01 CA074794NCI NIH HHS U01 CA097735NCI NIH HHS U01 CA122839NCI NIH HHS U01 CA167551NCI NIH HHS U19 CA148107NCI NIH HHS U24 CA074783NCI NIH HHS U24 CA074794NCI NIH HHS U24 CA097735NCI NIH HHS UM1 CA167551NIH HHS U01 CA 122839NIH HHS UM1 CA167551
6 · The paper itself

Abstract

Before SNP-based risk can be incorporated in colorectal cancer (CRC) screening, the ability of these SNPs to estimate CRC risk for persons with and without a family history of CRC, and the screening implications need to be determined. We estimated the association with CRC of a 45 SNP-based risk using 1181 cases and 999 controls, and its correlation with CRC risk predicted from detailed family history. We estimated the predicted change in the distribution across predefined risk categories, and implications for recommended screening commencement age, from adding SNP-based risk to family history. The inter-quintile risk ratio for colorectal cancer risk of the SNP-based risk was 3.28 (95% CI 2.54-4.22). SNP-based and family history-based risks were not correlated (r = 0.02). For persons with no first-degree relatives with CRC, screening could commence 4 years earlier for women (5 years for men) in the highest quintile of SNP-based risk. For persons with two first-degree relatives with CRC, screening could commence 16 years earlier for men and women in the highest quintile, and 7 years earlier for the lowest quintile. This 45 SNP panel in conjunction with family history, can identify people who could benefit from earlier screening. Risk reclassification by 45 SNPs could inform targeted screening for CRC prevention, particularly in clinical genetics settings when mutations in high-risk genes cannot be identified. Yet to be determined is cost-effectiveness, resources requirements, community, patient and clinician acceptance, and feasibility with potentially ethical, legal and insurance implications.

Indexed as

Polymorphism, Single NucleotideAdultAgedCase-Control StudiesColorectal NeoplasmsFemaleGenetic Predisposition to DiseaseHumansMaleMass ScreeningMedical History TakingMiddle AgedOdds RatioColorectal cancerFamily historyPrediction modelRisk predictionSingle nucleotide polymorphism

Identifiers

PMID31209717
PMCPMC6785388
OpenAlexW2949199469

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.