Evidence map›Paper›PMID 33627384›Full record

ArticleCancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology2021

Rare Variants in the DNA Repair Pathway and the Risk of Colorectal Cancer.

Marco Matejcic, Hiba A Shaban, Melanie W Quintana, Fredrick R Schumacher, Christopher K Edlund, Leah Naghi, Rish K Pai, Robert W Haile, A Joan Levine, Daniel D Buchanan and 8 more

Registry-linked trialOpen access · bronzeAbstract read
In one paragraph

Article in Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT02328677 (ColoCare Transdisciplinary Research in Colorectal Cancer Prognosis), which is not on this map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
0.8field-weighted citation impact, top 31% 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.

NCT02328677 recruitingnot on this map

ColoCare Transdisciplinary Research in Colorectal Cancer Prognosis

TypeobservationalSponsorUniversity of UtahRan2007 to 2030Enrolled5,000ConditionsColorectal Cancer
3 · Its place in the literature

Who cites it

5 citing papers in PubMed, 7 citations in OpenAlex.

  1. Review
  2. Article
  3. Article
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  5. 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

18 authors at 12 institutions in 3 countries.

Marco MatejcicDepartment of Cancer Epidemiology, Moffitt Cancer Center, Tampa, Florida.ORCID 0000-0003-3582-0968
Hiba A ShabanDepartment of Cancer Epidemiology, Moffitt Cancer Center, Tampa, Florida.
Melanie W QuintanaBerry Consultants, Austin, Texas.ORCID 0000-0002-1763-2704
Fredrick R SchumacherDepartment of Population and Quantitative Health Sciences, Case Western Reserve University, Cleveland, Ohio.
Christopher K EdlundDepartment of Preventive Medicine, USC Norris Comprehensive Cancer Center, Keck School of Medicine, University of Southern California, Los Angeles, California.
Leah NaghiDepartment of Medicine, Montefiore Medical Center, Albert Einstein College of Medicine, New York, New York.
Rish K PaiDepartment of Laboratory Medicine and Pathology, Mayo Clinic Arizona, Scottsdale, Arizona.ORCID 0000-0002-2692-221X
Robert W HaileDepartment of Medicine, Research Center for Health Equity, Cedars-Sinai Samuel Oschin Comprehensive Cancer Center, Los Angeles, California.ORCID 0000-0001-6902-1836
A Joan LevineDepartment of Medicine, Research Center for Health Equity, Cedars-Sinai Samuel Oschin Comprehensive Cancer Center, Los Angeles, California.
Daniel D BuchananColorectal Oncogenomics Group, Department of Clinical Pathology, The University of Melbourne, Parkville, Victoria, Australia.ORCID 0000-0003-2225-6675
Mark A JenkinsCentre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Melbourne, Victoria, Australia.
Jane C FigueiredoSamuel Oschin Comprehensive Cancer Institute, Cedars-Sinai Medical Center, Los Angeles, California.
Gad RennertClalit National Cancer Control Center, Carmel Medical Center and Technion Faculty of Medicine, Haifa, Israel.ORCID 0000-0002-8512-068X
Stephen B GruberCenter for Precision Medicine, City of Hope, Duarte, California.ORCID 0000-0001-8656-7822
Li LiDepartment of Family Medicine, University of Virginia, Charlottesville, Virginia.
Graham CaseyCenter for Public Health Genomics, University of Virginia, Charlottesville, Virginia.
David V Conti *Department of Preventive Medicine, Division of Biostatistics, University of Southern California, Los Angeles, California.
Stephanie L Schmit *Department of Cancer Epidemiology, Moffitt Cancer Center, Tampa, Florida. schmits3@ccf.org.ORCID 0000-0001-5931-1194
Cedars-Sinai Medical Center · USMoffitt Cancer Center · USUniversity of Southern California · USUniversity of Virginia · USAlbert Einstein College of Medicine · USBerry & Associates (United States) · USCarmel Medical Center · ILCity Of Hope National Medical Center · USMayo Clinic in Arizona · USThe Royal Melbourne Hospital · AUThe University of Melbourne · AUUniversity Hospitals Seidman Cancer Center · US

Funding

USC/NORRIS COMPREHENSIVE CANCER CENTER (CORE) SUPPORTP30CA014089 · NCI · UNIVERSITY OF SOUTHERN CALIFORNIA · PI MYLES G COCKBURN · 1985 to 2026
$181.4M
Statistical Methods for Integrative Genomics in CancerP01CA196569 · NCI · UNIVERSITY OF SOUTHERN CALIFORNIA · PI David V Conti · 2016 to 2026
$25.5M
Data sharing: the Colon Cancer Family Registry CohortU01CA167551 · NCI · UNIVERSITY OF MELBOURNE · PI Daniel David BUCHANAN, Steven Gallinger · 2018 to 2026
$16.8M
University of Michigan Training Program in Genomic ScienceT32HG000040 · NHGRI · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI Sebastian Zoellner · 1995 to 2026
$16.4M
Transdisciplinary Research on Energetics and CancerU54CA116867 · NCI · CASE WESTERN RESERVE UNIVERSITY · PI BERGER, NATHAN A. · 2005 to 2010
$11.3M
Transdisciplinary Studies of Genetic Variation in Colorectal CancerU19CA148107 · NCI · UNIVERSITY OF SOUTHERN CALIFORNIA · PI GRUBER, STEPHEN B · 2010 to 2014
$11.1M
MOLECULAR EPIDEMIOLOGY OF COLORECTAL CANCERR01CA081488 · NCI · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI GRUBER, STEPHEN B · 1999 to 2008
$9.2M
TRAINING IN COMPUTATIONAL GENOMIC EPIDEMIOLOGY OF CANCERR25CA094186 · NCI · CASE WESTERN RESERVE UNIVERSITY · PI LI, LI · 2002 to 2016
$6.8M
Training Grant in Genomic Analysis and InterpretationT32ES013678 · NIEHS · UNIVERSITY OF SOUTHERN CALIFORNIA · PI GAUDERMAN, WILLIAM JAMES, MCCONNELL, ROB S · 2006 to 2023
$5.6M
The Epidemiology of Immune Responses in Colorectal CancerR01CA197350 · NCI · UNIVERSITY OF SOUTHERN CALIFORNIA · PI GRUBER, STEPHEN B · 2015 to 2019
$3.2M
Genetic Epidemiology of Insulin Resistance Pathway Factors and Colon CancerK22CA120545 · NCI · CASE WESTERN RESERVE UNIVERSITY · PI LI, LI · 2006 to 2008
$468k
NCI NIH HHS K22 CA120545NCI NIH HHS P01 CA196569NCI NIH HHS P30 CA014089NCI NIH HHS R01 CA081488NCI NIH HHS R01 CA197350NCI NIH HHS R25 CA094186NCI NIH HHS U01 CA167551NCI NIH HHS U19 CA148107NCI NIH HHS U54 CA116867NHGRI NIH HHS T32 HG000040NIEHS NIH HHS T32 ES013678
6 · The paper itself

Abstract

backgroundInherited susceptibility is an important contributor to colorectal cancer risk, and rare variants in key genes or pathways could account in part for the missing proportion of colorectal cancer heritability.

methodsWe conducted an exome-wide association study including 2,327 cases and 2,966 controls of European ancestry from three large epidemiologic studies. Single variant associations were tested using logistic regression models, adjusting for appropriate study-specific covariates. In addition, we examined the aggregate effects of rare coding variation at the gene and pathway levels using Bayesian model uncertainty techniques.

resultsIn an exome-wide gene-level analysis, we identified

conclusionsWe identified novel variants and genes associated with colorectal cancer risk and provided additional evidence for a role of DNA repair in colorectal cancer tumorigenesis. IMPACT: This study provides new insights into the genetic predisposition to colorectal cancer, which has potential for translation into improved risk prediction.

Indexed as

Genetic Predisposition to DiseaseBayes TheoremColorectal NeoplasmsDNA RepairGenome-Wide Association StudyHumansPolymorphism, Single NucleotideRisk FactorsSialyltransferasesWhite PeopleSialyltransferasesST6GALNAC4 protein, human

Identifiers

PMID33627384
PMCPMC8102340
OpenAlexW3130334886

What OpenQuestion holds

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Registered trials

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.