Evidence map›Paper›PMID 33853833›Full record

ArticleCancer research2021

Genetic Variation and Recurrent Haplotypes on Chromosome 6q23-25 Risk Locus in Familial Lung Cancer.

Anthony M Musolf, Claire L Simpson, Bilal A Moiz, Claudio W Pikielny, Candace D Middlebrooks, Diptasri Mandal, Mariza de Andrade, Michael D Cole, Colette Gaba, Ping Yang and 8 more

Registry-linked trialOpen access · bronzeAbstract read
In one paragraph

Article in Cancer research, 2021. 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 8 papers.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed
0.7field-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.

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

8 citing papers in PubMed, 11 citations in OpenAlex.

  1. 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

18 authors at 11 institutions in 1 country.

Anthony M Musolf *Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Baltimore, Maryland.ORCID 0000-0002-7290-483X
Claire L Simpson *Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Baltimore, Maryland.
Bilal A MoizComputational 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.
Candace D MiddlebrooksComputational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Baltimore, Maryland.
Diptasri MandalDepartment of Genetics, Louisiana State University Health Science Center, New Orleans, Louisiana.
Mariza de AndradeMayo Clinic, Rochester, Minnesota.ORCID 0000-0003-2329-2686
Michael D ColeGeisel School of Medicine, Dartmouth College, Lebanon, New Hampshire.
Colette GabaDepartment of Medicine, University of Toledo Dana Cancer Center, Toledo, Ohio.
Ping YangMayo Clinic, Scottsdale, Arizona.ORCID 0000-0002-8588-847X
Ming YouMedical College of Wisconsin, Milwaukee, Wisconsin.
Yafang LiBaylor College of Medicine, Houston, Texas.
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.ORCID 0000-0002-9525-1157
Susan M PinneyDepartment of Environmental Health, University of Cincinnati College of Medicine, Cincinnati, Ohio.ORCID 0000-0003-3491-1980
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
National Human Genome Research Institute · USMedical College of Wisconsin · USBaylor College of Medicine · USDartmouth College · USLouisiana State University Health Sciences Center New Orleans · USMayo Clinic · USMayo Clinic in Arizona · USThe Barbara Ann Karmanos Cancer Institute · USToledo Clinic Cancer Center · USUniversity of Cincinnati Medical Center · USUniversity of Tennessee Health Science Center · US

Funding

Tumor BiologyP30CA125123 · NCI · BAYLOR COLLEGE OF MEDICINE · PI Michael M Ittmann · 2007 to 2026
$73.9M
Tumor Biology and Microenvironment (Program 1)P30CA022453 · NCI · WAYNE STATE UNIVERSITY · PI Julie Lynn Boerner · 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
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 ZIA HG200331NCI NIH HHS P30 CA022453NCI NIH HHS P30 CA125123NCI NIH HHS R01 CA080127NCI NIH HHS R01 CA084354NCI NIH HHS R03 CA077118NCI NIH HHS U01 CA076293NCI NIH HHS U01 CA243483NHLBI NIH HHS 75N92020C00001NHLBI NIH HHS HHSN268200800011CNHLBI NIH HHS HHSN268201200007CNHLBI NIH HHS HHSN268201700012CNIEHS NIH HHS P30 ES006096NIEHS NIH HHS R24 ES028527
6 · The paper itself

Abstract

Although lung cancer is known to be caused by environmental factors, it has also been shown to have genetic components, and the genetic etiology of lung cancer remains understudied. We previously identified a lung cancer risk locus on 6q23-25 using microsatellite data in families with a history of lung cancer. To further elucidate that signal, we performed targeted sequencing on nine of our most strongly linked families. Two-point linkage analysis of the sequencing data revealed that the signal was heterogeneous and that different families likely had different risk variants. Three specific haplotypes were shared by some of the families: 6q25.3-26 in families 42 and 44, 6q25.2-25.3 in families 47 and 59, and 6q24.2-25.1 in families 30, 33, and 35. Region-based logarithm of the odds scores and expression data identified the likely candidate genes for each haplotype overlap:

Indexed as

Genetic Predisposition to DiseaseGenetic VariationHaplotypesBiomarkers, TumorChromosome MappingChromosomes, Human, Pair 6FemaleGenetic LinkageGenome, HumanHumansLod ScoreLung NeoplasmsMalePedigreePrognosisBiomarkers, Tumor

Identifiers

PMID33853833
PMCPMC8409178
OpenAlexW3153633985

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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.