Evidence map›Paper›PMID 19626699›Full record

ArticleInternational journal of cancer2009

Identification of modifier genes for cutaneous malignant melanoma in melanoma-prone families with and without CDKN2A mutations.

Xiaohong Rose Yang, Ruth M Pfeiffer, William Wheeler, Meredith Yeager, Stephen Chanock, Margaret A Tucker, Alisa M Goldstein

Open access · greenAbstract read
In one paragraph

Article in International journal of cancer, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.

0numbers the graph read from it
0cells of the map it votes in
22citing papers in PubMed
1.2field-weighted citation impact, top 21% 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

22 citing papers in PubMed, 39 citations in OpenAlex.

  1. Review
  2. Article
  3. Article
  4. Review
  5. Article
  6. Article
  7. Phenocopies in melanoma-prone families with germ-line CDKN2A mutations.Genetics in medicine : official journal of the American College of Medical Genetics · 2018
    Article
  8. Review
  9. Review
  10. TSeminars in immunopathology · 2017
    Review
  11. Review
  12. Article
  13. Review
  14. Article
  15. Article
  16. Article
  17. Amazing IL-9: revealing a new function for an "old" cytokine.The Journal of clinical investigation · 2012
    Article
  18. Article
  19. Article
  20. Article
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

7 authors at 3 institutions in 1 country.

Xiaohong Rose YangGenetic Epidemiology Branch, Division of Cancer Epidemiology and Genetics, NCI/NIH/DHHS, Bethesda, MD 20852, USA. royang@mail.nih.gov
Ruth M Pfeiffer
William Wheeler
Meredith Yeager
Stephen Chanock
Margaret A Tucker
Alisa M Goldstein
United States Department of Health and Human Services · USDivision of Cancer Epidemiology and GeneticsInformation Management Services · US

Funding

Family Studies ZIACP004410 · NCI · DIVISION OF CANCER EPIDEMIOLOGY AND GENETICS · PI SAVAGE, SHARON A. · 2009 to 2025
$56.1M
STUDIES OF PERSONS AT HIGH RISK OF CANCER--GENETIC EPIDEMIOLOGYZ01CP004410 · NCI · DIVISION OF CANCER EPIDEMIOLOGY AND GENETICS · PI TUCKER, MARGARET · 1985 to 2008
$15.0M
Intramural NIH HHS Z01 CP004410
6 · The paper itself

Abstract

CDKN2A is a major susceptibility gene for cutaneous malignant melanoma (CMM), but the variable penetrance and clinical manifestations among mutation carriers suggest the existence of modifier factors. The goal of this study was to identify modifier genes for CMM in CMM-prone families with or without CDKN2A mutations. We genotyped 537 individuals (107 CMM) from 28 families (19 CDKN2A+, 9 CDKN2A-) for 1,536 SNPs in 152 genes involved in DNA repair, apoptosis and immune response pathways. We used conditional logistic regression to account for family ascertainment and differences in disease prevalence among families. Pathway- and gene-based permutation analyses were used to assess the risk of CMM associated with genes in the 5 pathways (DNA repair, apoptosis, TNF/NFkappaB, TH1:TH2 and other immune regulation). Our analyses identified some candidate genes such as FAS, BCL7A, CASP14, TRAF6, WRN, IL9, IL10RB, TNFSF8, TNFRSF9 and JAK3 that were associated with CMM risk (p<0.01, gene-based test). After correction for multiple comparisons, IL9 remained significant (Bonferroni p<0.05). The effects of some genes were stronger in CDKN2A-positive families (BCL7A and IL9), while some were stronger in CDKN2A-negative families (BCL2L1). Our findings support the hypothesis that common genetic polymorphisms in DNA repair, apoptosis and immune response pathways may modify the risk of CMM in CMM-prone families with or without CDKN2A mutations.

Indexed as

AdolescentAdultCyclin-Dependent Kinase Inhibitor p16FamilyFemaleHumansMaleMelanomaMiddle AgedMutationNeoplasm ProteinsPhenotypePolymorphism, Single NucleotideRisk FactorsSkin NeoplasmsYoung AdultCyclin-Dependent Kinase Inhibitor p16Neoplasm Proteins

Identifiers

PMID19626699
PMCPMC2767393
OpenAlexW2070643767

What OpenQuestion holds

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LicenceTDM
Read underepoch 390

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.