Evidence map›Paper›PMID 29698419›Full record

ArticlePloS one2018

Genetic susceptibility markers for a breast-colorectal cancer phenotype: Exploratory results from genome-wide association studies.

Mala Pande, Aron Joon, Abenaa M Brewster, Wei V Chen, John L Hopper, Cathy Eng, Sanjay Shete, Graham Casey, Fredrick Schumacher, Yi Lin and 18 more

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in PloS one, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed
2.2field-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

7 citing papers in PubMed, 20 citations in OpenAlex.

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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

28 authors at 12 institutions in 3 countries.

Mala PandeDepartment of Gastroenterology, Hepatology and Nutrition, The University of Texas, MD, Anderson Cancer Center, Houston, United States of America.ORCID 0000-0002-2504-4742
Aron JoonDepartment of Biostatistics, The University of Texas, MD, Anderson Cancer Center, Houston, TX, United States of America.
Abenaa M BrewsterDepartment of Clinical Cancer Prevention, The University of Texas, MD, Anderson Cancer Center, Houston, TX, United States of America.
Wei V ChenDepartment of Genetics, The University of Texas, MD, Anderson Cancer Center, Houston, TX, United States of America.
John L HopperEpidemiology and Institute of Health and Environment, The University of Melbourne School of Population and Global Health, Parkville, VIC, Australia.ORCID 0000-0002-8567-173X
Cathy EngDepartment of GI Medical Oncology, The University of Texas, MD, Anderson Cancer Center, Houston, TX, United States of America.
Sanjay SheteDepartment of Biostatistics, The University of Texas, MD, Anderson Cancer Center, Houston, TX, United States of America.
Graham CaseyCenter for Public Health Genomics, University of Virginia, Charlottesville, VA, United States of America.
Fredrick SchumacherDepartment of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, OH, United States of America.
Yi LinDivision of Public Health Sciences, Fred Hutchinson Cancer Research Center, Seattle, WA, United States of America.
Tabitha A HarrisonDivision of Public Health Sciences, Fred Hutchinson Cancer Research Center, Seattle, WA, United States of America.
Emily WhiteDivision of Public Health Sciences, Fred Hutchinson Cancer Research Center, Seattle, WA, United States of America.
Habibul AhsanDepartment of Public Health Sciences, University of Chicago, Chicago, IL, United States of America.
Irene L AndrulisLunenfeld-Tanenbaum Research Institute, Mount Sinai Health System, Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada.
Alice S WhittemoreDepartment of Health Research and Policy, Stanford University School of Medicine, Stanford, CA, United States of America.
Esther M JohnDepartment of Health Research and Policy, Stanford University School of Medicine, Stanford, CA, United States of America.ORCID 0000-0003-3259-8003
Aung Ko WinEpidemiology and Institute of Health and Environment, The University of Melbourne School of Population and Global Health, Parkville, VIC, Australia.
Enes MakalicEpidemiology and Institute of Health and Environment, The University of Melbourne School of Population and Global Health, Parkville, VIC, Australia.ORCID 0000-0003-3017-0871
Daniel F SchmidtEpidemiology and Institute of Health and Environment, The University of Melbourne School of Population and Global Health, Parkville, VIC, Australia.
Miroslaw K KapuscinskiEpidemiology and Institute of Health and Environment, The University of Melbourne School of Population and Global Health, Parkville, VIC, Australia.
Heather M Ochs-BalcomDepartment of Epidemiology and Environmental Health, School of Public Health and Health Professions, University at Buffalo, Buffalo, New York, United States of America.
Steven GallingerLunenfeld-Tanenbaum Research Institute, Mount Sinai Health System, Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada.
Mark A JenkinsEpidemiology and Institute of Health and Environment, The University of Melbourne School of Population and Global Health, Parkville, VIC, Australia.
Polly A NewcombDivision of Public Health Sciences, Fred Hutchinson Cancer Research Center, Seattle, WA, United States of America.
Noralane M LindorDepartment of Health Sciences Research, Mayo Clinic, Scottsdale, AZ, United States of America.
Ulrike PetersDivision of Public Health Sciences, Fred Hutchinson Cancer Research Center, Seattle, WA, United States of America.
Christopher I AmosDepartment of Community and Family Medicine, Dartmouth College, Lebanon, NH, United States of America.
Patrick M LynchDepartment of Gastroenterology, Hepatology and Nutrition, The University of Texas, MD, Anderson Cancer Center, Houston, United States of America.
The University of Texas MD Anderson Cancer Center · USThe University of Melbourne · AUFred Hutch Cancer Center · USUniversity of Toronto · CACancer Prevention Institute of California · USCase Western Reserve University · USChicago Department of Public Health · USDartmouth College · USMayo Clinic in Arizona · USStanford University · USUniversity at Buffalo, State University of New York · USUniversity of Virginia · US

Funding

Translational Engineering in Cancer (TEC)P30CA023108 · NCI · DARTMOUTH COLLEGE · PI Steven D Leach · 1985 to 2026
$91.3M
Molecular pathological epidemiology of colorectal cancerU01CA137088 · NCI · FRED HUTCHINSON CANCER RESEARCH CENTER · PI PETERS, ULRIKE · 2009 to 2018
$21.8M
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
Breast Cancer Family Registry CohortUM1CA164920 · NCI · CANCER PREVENTION INSTIT OF CALIFORNIA · PI ANDRULIS, IRENE, BUYS, SAUNDRA S · 2012 to 2017
$12.7M
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
FAMILIAL COLORECTAL NEOPLASIA COLLABORATIVE GROUPU01CA074800 · NCI · MAYO CLINIC ROCHESTER · PI LINDOR, NORALANE MOREY · 1997 to 2007
$9.1M
Inherited colorectal cancer risk variants: from association to biologyR01CA143237 · NCI · UNIVERSITY OF VIRGINIA · PI CASEY, GRAHAM · 2010 to 2020
$8.4M
The Colon Cancer Family Registry: USC ConsortiumU24CA074799 · NCI · UNIVERSITY OF SOUTHERN CALIFORNIA · PI HAILE, ROBERT WILLIAM · 2008 to 2011
$7.6M
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
NCI NIH HHS K05 CA154337NCI NIH HHS K07 CA160753NCI NIH HHS P30 CA023108NCI NIH HHS R01 CA143237NCI NIH HHS U01 CA074783NCI NIH HHS U01 CA074794NCI NIH HHS U01 CA074799NCI NIH HHS U01 CA074800NCI NIH HHS U01 CA074806NCI NIH HHS U01 CA097735NCI NIH HHS U01 CA122839NCI NIH HHS U01 CA137088NCI NIH HHS U01 CA188392NCI NIH HHS U24 CA074783NCI NIH HHS U24 CA074794NCI NIH HHS U24 CA074799NCI NIH HHS U24 CA074800NCI NIH HHS U24 CA074806NCI NIH HHS U24 CA097735NCI NIH HHS UM1 CA164920NCI NIH HHS UM1 CA167551NHLBI NIH HHS HHSN268201100001INHLBI NIH HHS HHSN268201100002INHLBI NIH HHS HHSN268201100003INHLBI NIH HHS HHSN268201100004INHLBI NIH HHS HHSN268201100046CNIA NIH HHS HHSN271201100004CNIH HHS K05 CA154337NIH HHS K07 CA160753NIH HHS R01 CA143237NIH HHS S10 OD020069NIH HHS U01 CA074778NIH HHS U01 CA122839NIH HHS U01 CA137088NIH HHS U01 CA188392NIH HHS U01/U24 CA074783NIH HHS U01/U24 CA074794NIH HHS U01/U24 CA074799NIH HHS U01/U24 CA074800NIH HHS U01/U24 CA074806NIH HHS U01/U24 CA097735NIH HHS UM1 CA164920NIH HHS UM1 CA167551WHI NIH HHS HHSN268201100001CWHI NIH HHS HHSN268201100002CWHI NIH HHS HHSN268201100003CWHI NIH HHS HHSN268201100004C
6 · The paper itself

Abstract

backgroundClustering of breast and colorectal cancer has been observed within some families and cannot be explained by chance or known high-risk mutations in major susceptibility genes. Potential shared genetic susceptibility between breast and colorectal cancer, not explained by high-penetrance genes, has been postulated. We hypothesized that yet undiscovered genetic variants predispose to a breast-colorectal cancer phenotype.

methodsTo identify variants associated with a breast-colorectal cancer phenotype, we analyzed genome-wide association study (GWAS) data from cases and controls that met the following criteria: cases (n = 985) were women with breast cancer who had one or more first- or second-degree relatives with colorectal cancer, men/women with colorectal cancer who had one or more first- or second-degree relatives with breast cancer, and women diagnosed with both breast and colorectal cancer. Controls (n = 1769), were unrelated, breast and colorectal cancer-free, and age- and sex- frequency-matched to cases. After imputation, 6,220,060 variants were analyzed using the discovery set and variants associated with the breast-colorectal cancer phenotype at P<5.0E-04 (n = 549, at 60 loci) were analyzed for replication (n = 293 cases and 2,103 controls).

resultsMultiple correlated SNPs in intron 1 of the ROBO1 gene were suggestively associated with the breast-colorectal cancer phenotype in the discovery and replication data (most significant; rs7430339, Pdiscovery = 1.2E-04; rs7429100, Preplication = 2.8E-03). In meta-analysis of the discovery and replication data, the most significant association remained at rs7429100 (P = 1.84E-06).

conclusionThe results of this exploratory analysis did not find clear evidence for a susceptibility locus with a pleiotropic effect on hereditary breast and colorectal cancer risk, although the suggestive association of genetic variation in the region of ROBO1, a potential tumor suppressor gene, merits further investigation.

Indexed as

Genetic Predisposition to DiseasePolymorphism, Single NucleotideAdultAgedBreast NeoplasmsCluster AnalysisColorectal NeoplasmsFemaleGenetic MarkersGenome-Wide Association StudyGenotypeHumansMaleMiddle AgedNerve Tissue ProteinsPhenotypeGenetic MarkersNerve Tissue ProteinsReceptors, ImmunologicRoundabout Proteins

Identifiers

PMID29698419
PMCPMC5919670
OpenAlexW2799507746

What OpenQuestion holds

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LicenceCC BY
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Registered trials

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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.