Evidence map›Paper›PMID 21617256›Full record

ArticleJournal of medical genetics2011

Variants in or near KITLG, BAK1, DMRT1, and TERT-CLPTM1L predispose to familial testicular germ cell tumour.

Christian P Kratz, Summer S Han, Philip S Rosenberg, Sonja I Berndt, Laurie Burdett, Meredith Yeager, Larissa A Korde, Phuong L Mai, Ruth Pfeiffer, Mark H Greene

Registry-linked trialOpen access · greenAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of medical genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT02109926 (A Multicentric Case-control Study to Assess the Association Between Environmental, Domestic and Occupational Exposures During Antenatal and Early Postnatal Periods and the Risk to Develop a Testicular Germ Cell Tumor During Adulthood), which is not on this map. Cited by 40 papers, 4 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
40citing papers in PubMed, 4 pooled it
11.8field-weighted citation impact, top 1% 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.

NCT02109926 completednot on this mapstarted 2015, after this paper: background citation

A Multicentric Case-control Study to Assess the Association Between Environmental, Domestic and Occupational Exposures During Antenatal and Early Postnatal Periods and the Risk to Develop a Testicular Germ Cell Tumor During Adulthood

TypeobservationalSponsorCentre Leon BerardRan2015 to 2018Enrolled1,367ConditionsTesticular Germ Cell TumorArmsPhone interview and blood test
3 · Its place in the literature

Who cites it

40 citing papers in PubMed, 4 syntheses or guidelines pooled it, 79 citations in OpenAlex.

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  4. Association BetweenCancer genomics & proteomics
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  18. Parent-of-origin effects of A1CF and AGO2 on testicular germ-cell tumors, testicular abnormalities, and fertilization bias.Proceedings of the National Academy of Sciences of the United States of America · 2016
    Article
  19. Review
  20. Zebrafish Germ Cell Tumors.Advances in experimental medicine and biology · 2016
    Review
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

10 authors at 3 institutions in 1 country.

Christian P KratzDivision of CancerEpidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, Maryland 20852, USA. kratzcp@mail.nih.gov
Summer S Han
Philip S Rosenberg
Sonja I Berndt
Laurie Burdett
Meredith Yeager
Larissa A Korde
Phuong L Mai
Ruth Pfeiffer
Mark H Greene
National Cancer Institute · USNational Institutes of Health · USScience Applications International Corporation (United States) · US

Funding

Clinical Genetic Studies of Familial and Hereditary Cancer SyndromesZIACP010144 · NCI · DIVISION OF CANCER EPIDEMIOLOGY AND GENETICS · PI SAVAGE, SHARON A. · 2009 to 2025
$111.8M
Clinical/Genetic Studies of Family/Hereditary CancersZ01CP010144 · NCI · DIVISION OF CANCER EPIDEMIOLOGY AND GENETICS · PI GREENE, MARK H · 2000 to 2008
$1.1M
Intramural NIH HHS Z01 CP010144Intramural NIH HHS ZIA CP010144NCI NIH HHS N02 CP065504
6 · The paper itself

Abstract

backgroundFamilial testicular germ cell tumours (TGCTs) and bilateral TGCTs comprise 1-2% and 5% of all TGCTs, respectively, but their genetic basis remains largely unknown.

aimTo investigate the contribution of known testicular cancer risk variants in familial and bilateral TGCTs. METHODS AND

resultsThe study genotyped 106 single nucleotide polymorphisms (SNPs) in four regions (BAK1, DMRT1, KITLG, TERT-CLPTM1L) previously identified from genome-wide association studies of TGCT, including risk single nucleotide polymorphisms (SNPs) rs210138 (BAK1), rs755383 (DMRT1), rs4635969 (TERT-CLPTM1L) in 97 cases with familial TGCT and 22 affected individuals with sporadic bilateral TGCT as well as 871 controls. Using a generalised estimating equations method that takes into account blood relationships among cases, the associations with familial and bilateral TGCT were analysed. Three previously identified risk SNPs were found to be associated with familial and bilateral TGCT (rs210138: OR 1.80, CI 1.35 to 2.41, p=7.03×10(-5); rs755383: OR 1.67, CI 1.23 to 2.22, p=6.70×10(-4); rs4635969: OR 1.59, CI 1.16 to 2.19, p=4.07×10(-3)). Evidence for a second independent association was found for an SNP in TERT (rs4975605: OR 1.68, CI 1.23 to 2.29, p=1.24×10(-3)). Another association with an SNP was identified in KITLG (rs2046971: OR 2.33, p=1.28×10(-3)); this SNP is in high linkage disequilibrium (LD) with reported risk variant rs995030.

conclusionThis study provides evidence for replication of recent genome-wide association studies results and shows that variants in or near BAK1, DMRT1, TERT-CLPTM1L, and KITLG predispose to familial and bilateral TGCT. These findings imply that familial TGCT and sporadic TGCT share a common genetic basis.

Indexed as

AdolescentAdultAllelesbcl-2 Homologous Antagonist-Killer ProteinGene Expression Regulation, NeoplasticGenetic Predisposition to DiseaseGenotypeHumansMaleMembrane ProteinsMiddle AgedNeoplasm ProteinsNeoplasms, Germ Cell and EmbryonalPolymorphism, Single NucleotideStem Cell FactorTelomeraseBAK1 protein, humanbcl-2 Homologous Antagonist-Killer ProteinCLPTM1L protein, humanDMRT1 proteinMembrane ProteinsNeoplasm ProteinsStem Cell FactorTelomeraseTranscription Factors

Identifiers

PMID21617256
PMCPMC3131696
OpenAlexW2105460105

What OpenQuestion holds

Textmetadata
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Read underepoch 390

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.