Evidence map›Paper›PMID 28830827›Full record

ArticleThe Journal of investigative dermatology2017

Germline Variation at CDKN2A and Associations with Nevus Phenotypes among Members of Melanoma Families.

Nicholas J Taylor, Nandita Mitra, Alisa M Goldstein, Margaret A Tucker, Marie-Françoise Avril, Esther Azizi, Wilma Bergman, D Timothy Bishop, Brigitte Bressac-de Paillerets, William Bruno and 35 more

Open access · bronzeAbstract read
In one paragraph

Article in The Journal of investigative dermatology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.

0numbers the graph read from it
0cells of the map it votes in
17citing papers in PubMed
1.4field-weighted citation impact, top 16% 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

17 citing papers in PubMed, 22 citations in OpenAlex.

  1. Age-specific melanoma risk associated with melanocytic nevi: a pooled analysis from the M-SKIP project.Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG · 2026
    Article
  2. Disruption of CTCF binding by germline non-coding variants inmedRxiv : the preprint server for health sciences · 2026
    Article
  3. Article
  4. Review
  5. Nevi and Melanoma.Hematology/oncology clinics of North America · 2024
    Review
  6. Review
  7. Review
  8. Review
  9. Review
  10. Review
  11. Melanoma Genomics.Acta dermato-venereologica · 2020
    Review
  12. Article
  13. Article
  14. Host Characteristics and Risk of Incident Melanoma by Breslow Thickness.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2019
    Article
  15. Review
  16. Article
  17. Review
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

45 authors at 20 institutions in 14 countries.

Nicholas J TaylorDepartment of Epidemiology and Biostatistics, Texas A&M Health Science Center, College Station, Texas, USA.
Nandita MitraDepartment of Biostatistics and Epidemiology, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
Alisa M GoldsteinHuman Genetics Program, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, Maryland, USA.
Margaret A TuckerHuman Genetics Program, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, Maryland, USA.
Marie-Françoise AvrilAssistance Publique-Hôpitaux de Paris, Hôpital Cochin et Université Paris Descartes, Paris, France.
Esther AziziDepartment of Dermatology, Sheba Medical Center, Tel Hashomer, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
Wilma BergmanDepartment of Dermatology, Leiden University Medical Centre, Leiden, The Netherlands.
D Timothy BishopSection of Epidemiology and Biostatistics, Leeds Institute of Cancer and Pathology, Cancer Research UK Clinical Centre at Leeds, St James's University Hospital, Leeds, UK.
Brigitte Bressac-de PailleretsGustave Roussy, Université Paris-Saclay, Département de Biologie et Pathologie Médicales, INSERM, U1186, Villejuif, France.
William BrunoDepartment of Internal Medicine and Medical Specialties, University of Genoa and IRCCS AOU San Martino-IST Genoa, Italy.
Donato CalistaDermatology Unit, Maurizio Bufalini Hospital, Cesena, Italy.
Lisa A Cannon-AlbrightDepartments of Genetic Epidemiology and Biomedical Informatics, University of Utah, Salt Lake City, Utah, USA.
Francisco CuellarMelanoma Unit, Dermatology Department, Hospital Clinic, IDIBAPS, Barcelona, Spain; CIBER de Enfermedades Raras, Barcelona, Spain.
Anne E CustSydney School of Public Health, University of Sydney, Sydney, New South Wales, Australia; Melanoma Institute Australia, Westmead, New South Wales, Australia.
Florence DemenaisGenetic Variation and Human Diseases Unit, UMR-946, INSERM, Université Paris Diderot, Université Sorbonne Paris Cité, Paris, France.
David E ElderDepartments of Pathology and Laboratory Medicine, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA.
Anne-Marie GerdesDepartment of Clinical Genetics, University Hospital of Copenhagen, Copenhagen, Denmark.
Paola GhiorzoSection of Epidemiology and Biostatistics, Leeds Institute of Cancer and Pathology, Cancer Research UK Clinical Centre at Leeds, St James's University Hospital, Leeds, UK.
Thais C GrazziotinUniversidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, Rio Grande do Sul, Brazil.
Johan HanssonDepartment of Oncology-Pathology, Karolinska Institutet, Stockholm, Sweden.
Mark HarlandSection of Epidemiology and Biostatistics, Leeds Institute of Cancer and Pathology, Cancer Research UK Clinical Centre at Leeds, St James's University Hospital, Leeds, UK.
Nicholas K HaywardQIMR Berghofer Medical Research Institute, Herston, Queensland, Australia.
Marko HocevarInstitute of Oncology Ljubljana, Zaloska, Ljubljana, Slovenia.
Veronica HöiomDepartment of Oncology-Pathology, Karolinska Institutet, Stockholm, Sweden.
Christian IngvarDepartments of Clinical Sciences and Surgery, Lund University, Lund, Sweden.
Maria Teresa LandiHuman Genetics Program, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, Maryland, USA.
Gilles LandmanDepartment of Pathology, Escola Paulista de Medicina, UNIFESP, São Paulo, Brazil.
Alejandra Larre-BorgesUnidad de Lesiones Pigmentadas, Cátedra de Dermatología, Hospital de Clínicas, Universidad de la República, Montevideo, Uruguay.
Sancy A LeachmanDepartment of Dermatology, Oregon Health & Science University, Portland, Oregon, USA.
Graham J MannMelanoma Institute Australia, Westmead, New South Wales, Australia; Westmead Institute for Cancer Research, University of Sydney at Westmead Millennium Institute, New South Wales, Australia.
Eduardo NagoreDepartment of Dermatology, Instituto Valenciano de Oncologia, Valencia, Spain.
Håkan OlssonDepartments of Clinical Sciences and Surgery, Lund University, Lund, Sweden.
Jane M PalmerQIMR Berghofer Medical Research Institute, Herston, Queensland, Australia.
Barbara PerićInstitute of Oncology Ljubljana, Zaloska, Ljubljana, Slovenia.
Dace PjanovaLatvian Biomedical Research and Study Centre, Riga, Latvia.
Antonia PritchardQIMR Berghofer Medical Research Institute, Herston, Queensland, Australia.
Susana PuigMelanoma Unit, Dermatology Department, Hospital Clinic, IDIBAPS, Barcelona, Spain; CIBER de Enfermedades Raras, Barcelona, Spain.
Nienke van der StoepDepartment of Dermatology, Leiden University Medical Centre, Leiden, The Netherlands.
Karin A W WadtDepartment of Clinical Genetics, University Hospital of Copenhagen, Copenhagen, Denmark.
Linda WhitakerSection of Epidemiology and Biostatistics, Leeds Institute of Cancer and Pathology, Cancer Research UK Clinical Centre at Leeds, St James's University Hospital, Leeds, UK.
Xiaohong R YangHuman Genetics Program, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, Maryland, USA.
Julia A Newton BishopSection of Epidemiology and Biostatistics, Leeds Institute of Cancer and Pathology, Cancer Research UK Clinical Centre at Leeds, St James's University Hospital, Leeds, UK.
Nelleke A GruisDepartment of Dermatology, Leiden University Medical Centre, Leiden, The Netherlands.
Peter A KanetskyDepartment of Cancer Epidemiology, H. Lee Moffitt Cancer Center and Research Institute, Tampa, Florida, USA. Electronic address: peter.kanetsky@moffitt.org.
GenoMEL Study Group
Cancer Research UK · GBNational Cancer Institute · USLeiden University Medical Center · NLQIMR Berghofer Medical Research Institute · AUCentro de Investigación Biomédica en Red · ESCopenhagen University Hospital · DKInserm · FRInstitute of Oncology Ljubljana · SIKarolinska Institutet · SELund University · SEThe University of Sydney · AUUniversity of Pennsylvania · USFundación Instituto Valenciano de Oncología · ESLatvian Biomedical Research and Study Centre · LVMoffitt Cancer Center · USOregon Health & Science University · USOspedale “M. Bufalini” di Cesena · ITOspedale Policlinico San Martino · ITTel Aviv University · ILTexas A&M Health Science Center · US

Funding

UTAH REGIONAL CANCER CENTERP30CA042014 · NCI · UTAH STATE HIGHER EDUCATION SYSTEM--UNIVERSITY OF UTAH · PI Jared P Rutter · 1986 to 2026
$72.6M
Genetic Epidermiology of MelanomaR01CA083115 · NCI · UNIVERSITY OF PENNSYLVANIA · PI BISHOP, DAVID TIMOTHY, ELDER, DAVID ERIC · 2001 to 2017
$13.0M
Pathways from genotype and environment to melanomaR01CA088363 · NCI · QUEENSLAND INSTITUTE OF MEDICAL RESEARCH · PI HAYWARD, NICHOLAS K · 2001 to 2012
$2.4M
Moffitt Postdoctoral Training Program in Molecular & Genetic EpidemiologyR25CA147832 · NCI · H. LEE MOFFITT CANCER CTR & RES INST · PI EGAN, KATHLEEN M. · 2010 to 2014
$2.0M
Moffitt Postdoctoral Training Program in Molecular EpidemiologyT32CA147832 · NCI · H. LEE MOFFITT CANCER CTR & RES INST · PI KANETSKY, PETER A · 2015 to 2019
$659k
Cancer Research UK 10589Cancer Research UK 19167European Research Council 294576NCI NIH HHS P30 CA042014NCI NIH HHS R01 CA083115NCI NIH HHS R01 CA088363NCI NIH HHS R25 CA147832NCI NIH HHS T32 CA147832
6 · The paper itself

Abstract

Germline mutations in CDKN2A are frequently identified among melanoma kindreds and are associated with increased atypical nevus counts. However, a clear relationship between pathogenic CDKN2A mutation carriage and other nevus phenotypes including counts of common acquired nevi has not yet been established. Using data from GenoMEL, we investigated the relationships between CDKN2A mutation carriage and 2-mm, 5-mm, and atypical nevus counts among blood-related members of melanoma families. Compared with individuals without a pathogenic mutation, those who carried one had an overall higher prevalence of atypical (odds ratio = 1.64; 95% confidence interval = 1.18-2.28) nevi but not 2-mm nevi (odds ratio = 1.06; 95% confidence interval = 0.92-1.21) or 5-mm nevi (odds ratio = 1.26; 95% confidence interval = 0.94-1.70). Stratification by case status showed more pronounced positive associations among non-case family members, who were nearly three times (odds ratio = 2.91; 95% confidence interval = 1.75-4.82) as likely to exhibit nevus counts at or above the median in all three nevus categories simultaneously when harboring a pathogenic mutation (vs. not harboring one). Our results support the hypothesis that unidentified nevogenic genes are co-inherited with CDKN2A and may influence carcinogenesis.

Indexed as

Germ-Line MutationCutaneous Malignant MelanomaCyclin-Dependent Kinase Inhibitor p16Cyclin-Dependent Kinase Inhibitor p18DNA Mutational AnalysisFamily HealthFemaleGenotypeHumansMaleMelanomaNevusNevus, PigmentedOdds RatioPhenotypeRegistriesCDKN2A protein, humanCyclin-Dependent Kinase Inhibitor p16Cyclin-Dependent Kinase Inhibitor p18

Identifiers

PMID28830827
PMCPMC5701856
OpenAlexW2747786151

What OpenQuestion holds

Textmetadata
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.