Evidence map›Paper›PMID 31826912›Full record

ArticleCancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology2020

Whole Exome Sequencing of Highly Aggregated Lung Cancer Families Reveals Linked Loci for Increased Cancer Risk on Chromosomes 12q, 7p, and 4q.

Anthony M Musolf, Bilal A Moiz, Haiming Sun, Claudio W Pikielny, Yohan Bossé, Diptasri Mandal, Mariza de Andrade, Colette Gaba, Ping Yang, Yafang Li and 9 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, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT02295085 (Fernald Community Cohort - 18 Year Observational Study with Bio Banked Blood and Urine Samples), which is not on this map. Cited by 11 papers.

0numbers the graph read from it
0cells of the map it votes in
11citing papers in PubMed
0.6field-weighted citation impact, top 32% 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.

NCT02295085 unknown statusnot on this map

Fernald Community Cohort - 18 Year Observational Study with Bio Banked Blood and Urine Samples

TypeobservationalSponsorUniversity of CincinnatiRan1990 to 2025Enrolled9,782ConditionsCancer, Renal Failure, Diabetes, Cardiovascular Disease
3 · Its place in the literature

Who cites it

11 citing papers in PubMed, 15 citations in OpenAlex.

  1. Article
  2. High-Penetrance Rare Variants Underlying Familial Lung Cancer Risk: Insights From Genetic Epidemiology of Lung Cancer Consortium.Journal of thoracic oncology : official publication of the International Association for the Study of Lung Cancer · 2026
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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

19 authors at 13 institutions in 3 countries.

Anthony M MusolfComputational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Baltimore, Maryland.ORCID 0000-0002-7290-483X
Bilal A MoizComputational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Baltimore, Maryland.
Haiming SunComputational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Baltimore, Maryland.
Claudio W PikielnyGeisel School of Medicine, Dartmouth College, Lebanon, New Hampshire.ORCID 0000-0002-2216-0617
Yohan BosséInstitut universitaire de cardiologie et de pneumologie de Québec, Department of Molecular Medicine, Laval University, Québec, Québec, Canada.ORCID 0000-0002-3067-3711
Diptasri MandalDepartment of Genetics, Louisiana State University Health Sciences Center, New Orleans, Louisiana.
Mariza de AndradeMayo Clinic, Rochester, Minnesota.ORCID 0000-0003-2329-2686
Colette GabaDepartment of Medicine, University of Toledo Dana Cancer Center, Toledo, Ohio.
Ping YangMayo Clinic, Scottsdale, Arizona.
Yafang LiBaylor College of Medicine, Houston, Texas.
Ming YouMedical College of Wisconsin, Milwaukee, Wisconsin.
Ramaswamy GovindanDivision of Oncology, Washington University School of Medicine, St. Louis, Missouri.
Richard K WilsonInstitute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio.ORCID 0000-0002-9153-2920
Elena Y KupertMedical College of Wisconsin, Milwaukee, Wisconsin.
Marshall W AndersonMedical College of Wisconsin, Milwaukee, Wisconsin.
Ann G SchwartzKarmanos Cancer Institute, Wayne State University, Detroit, Michigan.
Susan M PinneyDepartment of Environmental Health, University of Cincinnati College of Medicine, Cincinnati, Ohio.
Christopher I AmosBaylor College of Medicine, Houston, Texas.ORCID 0000-0002-8540-7023
Joan E Bailey-WilsonComputational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Baltimore, Maryland. jebw@mail.nih.gov.ORCID 0000-0002-9153-2920
Medical College of Wisconsin · USNational Human Genome Research Institute · USBaylor College of Medicine · USMayo Clinic · USDartmouth College · USHarbin Medical University · CNInstitut universitaire de cardiologie et de pneumologie de Québec · CALouisiana State University Health Sciences Center New Orleans · USNationwide Children's Hospital · USThe Barbara Ann Karmanos Cancer Institute · USToledo Clinic Cancer Center · USUniversity of Cincinnati Medical Center · USWashington University in St. Louis · US

Funding

Tumor Biology and Microenvironment (Program 1)P30CA022453 · NCI · WAYNE STATE UNIVERSITY · PI PAUL M STEMMER · 1985 to 2026
$68.4M
REPRODUCTIVE AND DEVELOPMENTAL TOXICOLOGY RESEARCHP30ES006096 · NIEHS · UNIVERSITY OF CINCINNATI · PI PINNEY, SUSAN MENGEL · 1992 to 2022
$35.4M
Genetic Epidemiology of CancerZIAHG200331 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI BAILEY-WILSON, JOAN ELLEN · 2009 to 2022
$11.7M
GENETIC EPIDEMIOLOGY OF LUNG CANCERU01CA076293 · NCI · UNIVERSITY OF CINCINNATI · PI ANDERSON, MARSHALL W · 1999 to 2009
$11.5M
Transdisciplinary Research in Cancer of the Lung (TRICL)U19CA148127 · NCI · UNIVERSITY OF TX MD ANDERSON CAN CTR · PI AMOS, CHRISTOPHER I., LE MARCHAND, LOIC · 2010 to 2014
$10.9M
ALPHA 1 AD CARRIERS AND LUNG CANCER RISKR01CA080127 · NCI · MAYO CLINIC ROCHESTER · PI YANG, PING · 2000 to 2009
$4.4M
Genetic Determinants of Lung Cancer SurvivalR01CA084354 · NCI · MAYO CLINIC ROCHESTER · PI YANG, PING · 2001 to 2012
$4.0M
Sequencing Familial Lung CancerU01CA243483 · NCI · BAYLOR COLLEGE OF MEDICINE · PI AMOS, CHRISTOPHER I., PINNEY, SUSAN MENGEL · 2020 to 2022
$2.0M
Fernald Community Cohort: Research Resource for Environmental EpidemiologyR24ES028527 · NIEHS · UNIVERSITY OF CINCINNATI · PI PINNEY, SUSAN MENGEL · 2018 to 2024
$2.0M
DEVELOPMENT OF LUNG CANCER EPIDEMIOLOGY RESEARCHR03CA077118 · NCI · MAYO CLINIC COLL OF MEDICINE, ROCHESTER · PI YANG, PING · 1997 to 1998
–
Intramural NIH HHS Z99 HG999999Intramural NIH HHS ZIA HG200331NCI NIH HHS P30 CA022453NCI NIH HHS R01 CA080127NCI NIH HHS R01 CA084354NCI NIH HHS R03 CA077118NCI NIH HHS U01 CA076293NCI NIH HHS U01 CA243483NCI NIH HHS U19 CA148127NHLBI NIH HHS HHSN268201000007CNIEHS NIH HHS P30 ES006096NIEHS NIH HHS R24 ES028527
6 · The paper itself

Abstract

backgroundLung cancer kills more people than any other cancer in the United States. In addition to environmental factors, lung cancer has genetic risk factors as well, though the genetic etiology is still not well understood. We have performed whole exome sequencing on 262 individuals from 28 extended families with a family history of lung cancer.

methodsParametric genetic linkage analysis was performed on these samples using two distinct analyses-the lung cancer only (LCO) analysis, where only patients with lung cancer were coded as affected, and the all aggregated cancers (AAC) analysis, where other cancers seen in the pedigree were coded as affected.

resultsThe AAC analysis yielded a genome-wide significant result at rs61943670 in

conclusionsRegions on 12q, 7p, and 4q are linked to increased cancer risk in highly aggregated lung cancer families, 12q across families and 7p and 4q within a single family. IMPACT: Functional work on these genes is planned for future studies and if confirmed would lead to potential biomarkers for risk in cancer.

Indexed as

Genetic Predisposition to DiseaseCell Adhesion Molecules, NeuronalChromosomes, Human, Pair 12Chromosomes, Human, Pair 4Chromosomes, Human, Pair 7Dentin SialophosphoproteinExome SequencingExtracellular Matrix ProteinsFemaleHaplotypesHumansLod ScoreLung NeoplasmsMaleMedical History TakingPedigreeCell Adhesion Molecules, NeuronalDentin SialophosphoproteinExtracellular Matrix ProteinsPhosphoproteinsPOLR3B protein, humanProtein Tyrosine Phosphatase, Non-Receptor Type 13PTPN13 protein, humanRNA Polymerase IIISCO-spondinSialoglycoproteins

Identifiers

PMID31826912
PMCPMC7007362
OpenAlexW2994781997

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.