Evidence map›Paper›PMID 28275244›Full record

ArticleJournal of human genetics2017

Mosaic chromosome Y loss and testicular germ cell tumor risk.

Mitchell J Machiela, Casey L Dagnall, Anand Pathak, Jennifer T Loud, Stephen J Chanock, Mark H Greene, Katherine A McGlynn, Douglas R Stewart

Open access · greenAbstract read
In one paragraph

Article in Journal of human genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers.

0numbers the graph read from it
0cells of the map it votes in
34citing papers in PubMed
5.0field-weighted citation impact, top 5% 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

34 citing papers in PubMed, 49 citations in OpenAlex.

  1. Article
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  6. Article
  7. Article
  8. Article
  9. Article
  10. Review
  11. Y Chromosome Loss and Implications for Oncology.Molecular cancer research : MCR · 2024
    Review
  12. Article
  13. Article
  14. Review
  15. Article
  16. Review
  17. Article
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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

8 authors at 2 institutions in 1 country.

Mitchell J MachielaDivision of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, USA.ORCID http://orcid.org/0000-0001-6538-9705
Casey L DagnallDivision of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, USA.ORCID http://orcid.org/0000-0001-7334-4718
Anand PathakDivision of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, USA.
Jennifer T LoudDivision of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, USA.
Stephen J ChanockDivision of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, USA.
Mark H GreeneDivision of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, USA.
Katherine A McGlynnDivision of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, USA.
Douglas R StewartDivision of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, USA.
National Cancer Institute · USLeidos (United States) · US

Funding

Intramural NIH HHS Z99 CA999999
6 · The paper itself

Abstract

Studies have suggested mosaic loss of chromosome Y (mLOY) in blood-derived DNA is common in older men. Cohort studies investigating mLOY and mortality have reported contradictory results. Previous work found that a 1.6 Mb deletion of the AZFc region on the Y chromosome (the 'gr/gr' deletion) is associated with both male infertility and increased risk of testicular germ cell tumors (TGCT). We investigated whether mosaic loss across the entire Y chromosome was associated with TGCT. We obtained blood- and buccal-derived DNA from two case-control studies: the NCI Familial Testicular Cancer Study (cases=172; controls=163) and the NCI US Servicemen's Testicular Tumor Environmental and Endocrine Determinants Study (cases=506; controls=611). We used 15 quantitative polymerase chain reactions spanning the Y chromosome to assess mLOY. Multivariate logistic regression models adjusted for study batch effects detected no significant overall relationship between mean chromosome Y target-to-reference (T/R) ratio and TGCT (odds ratio=0.34, 95% confidence interval=0.10-1.17, P=0.09). When restricted to familial TGCT cases, a significantly lower T/R ratio was observed in cases compared with controls (0.993 vs 1.014, P-value=0.01). Our study suggests that mLOY, as measured by 15 probes spanning the Y chromosome, could be associated with familial TGCT, but larger studies are required to confirm this observation.

Indexed as

Chromosome DeletionAdultChromosomes, Human, YCohort StudiesGenetic Association StudiesGenetic Predisposition to DiseaseHumansInfertility, MaleMaleMosaicismNeoplasms, Germ Cell and EmbryonalRisk FactorsTesticular Neoplasms

Identifiers

PMID28275244
PMCPMC5444985
OpenAlexW2593251617

What OpenQuestion holds

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Registered trials

None linked

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.