Evidence map›Paper›PMID 28212542›Full record

SynthesisOncotarget2017

Two-stage genome-wide association study identifies a novel susceptibility locus associated with melanoma.

Katherine J Ransohoff, Wenting Wu, Hyunje G Cho, Harvind C Chahal, Yuan Lin, Hong-Ji Dai, Christopher I Amos, Jeffrey E Lee, Jean Y Tang, David A Hinds and 3 more

Open access · diamondAbstract readMeta-Analysis
In one paragraph

Synthesis in Oncotarget, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 45 papers, 4 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
45citing papers in PubMed, 4 pooled it
4.7field-weighted citation impact, top 4% 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

45 citing papers in PubMed, 4 syntheses or guidelines pooled it, 69 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. Pooled it
  4. Pooled it
  5. Review
  6. Reactivation of the silencedProceedings of the National Academy of Sciences of the United States of America · 2026
    Article
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  10. A blood- and brain-based EWAS of smoking.Nature communications · 2025
    Article
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  13. Article
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  16. New Insights into Melanoma Tumor Syndromes.JID innovations : skin science from molecules to population health · 2022
    Review
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  18. 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

13 authors at 8 institutions in 2 countries.

Katherine J RansohoffDepartment of Dermatology, Stanford University School of Medicine, Stanford, CA, USA.
Wenting WuDepartment of Epidemiology, Richard M. Fairbanks School of Public Health, Melvin and Bren Simon Cancer Center, Indiana University, Indianapolis, IN, USA.
Hyunje G ChoDepartment of Dermatology, Stanford University School of Medicine, Stanford, CA, USA.
Harvind C ChahalDepartment of Dermatology, Stanford University School of Medicine, Stanford, CA, USA.
Yuan LinDepartment of Epidemiology, Richard M. Fairbanks School of Public Health, Melvin and Bren Simon Cancer Center, Indiana University, Indianapolis, IN, USA.
Hong-Ji DaiDepartment of Epidemiology, Richard M. Fairbanks School of Public Health, Melvin and Bren Simon Cancer Center, Indiana University, Indianapolis, IN, USA.
Christopher I AmosDepartment of Community and Family Medicine, Geisel School of Medicine, Dartmouth College, Hanover, NH, USA.
Jeffrey E LeeDepartment of Surgical Oncology, The University of Texas M.D. Anderson Cancer Center, Houston, TX, USA.
Jean Y TangDepartment of Dermatology, Stanford University School of Medicine, Stanford, CA, USA.
David A Hinds23andMe Inc., Mountain View, CA, USA.
Jiali HanDepartment of Epidemiology, Richard M. Fairbanks School of Public Health, Melvin and Bren Simon Cancer Center, Indiana University, Indianapolis, IN, USA.
Qingyi WeiDuke Cancer Institute, Department of Medicine, Duke University, Durham, NC,USA.
Kavita Y SarinDepartment of Dermatology, Stanford University School of Medicine, Stanford, CA, USA.
Stanford University · USIndiana University Indianapolis23andMe (United States) · USDartmouth College · USDuke University · USIndiana University Health · USThe University of Texas MD Anderson Cancer Center · USTianjin Medical University Cancer Institute and Hospital · CN

Funding

Translational Engineering in Cancer (TEC)P30CA023108 · NCI · DARTMOUTH COLLEGE · PI Steven D Leach · 1985 to 2026
$91.3M
Statistical MethodsP01CA087969 · NCI · BRIGHAM AND WOMEN'S HOSPITAL · PI TWOROGER, SHELLEY S · 2000 to 2019
$77.8M
Long Term Multidisciplinary Study of Cancer in Women: The Nurses Health StudyUM1CA186107 · NCI · BRIGHAM AND WOMEN'S HOSPITAL · PI ELIASSEN, A. HEATHER, STAMPFER, MEIR · 2014 to 2023
$22.3M
Cancer Epidemiology Cohort in Male Health ProfessionalsUM1CA167552 · NCI · HARVARD SCHOOL OF PUBLIC HEALTH · PI WILLETT, WALTER C. · 2012 to 2016
$11.5M
BIOCHEMICAL MARKERS IN THE NURSES'HEALTH STUDY COHORTR01CA049449 · NCI · BRIGHAM AND WOMEN'S HOSPITAL · PI HANKINSON, SUSAN E · 1989 to 2008
$11.3M
Development of a web-based database and research engine for genetic discoveryR44HG006981 · NHGRI · 23ANDME, INC. · PI MOUNTAIN, JOANNA L. · 2013 to 2014
$1.4M
NCI NIH HHS P01 CA087969NCI NIH HHS P30 CA023108NCI NIH HHS R01 CA049449NCI NIH HHS UM1 CA167552NCI NIH HHS UM1 CA186107NHGRI NIH HHS R44 HG006981
6 · The paper itself

Abstract

Genome-wide association studies have identified 21 susceptibility loci associated with melanoma. These loci implicate genes affecting pigmentation, nevus count, telomere maintenance, and DNA repair in melanoma risk. Here, we report the results of a two-stage genome-wide association study of melanoma. The stage 1 discovery phase consisted of 4,842 self-reported melanoma cases and 286,565 controls of European ancestry from the 23andMe research cohort and the stage 2 replication phase consisted of 1,804 melanoma cases and 1,026 controls from the University of Texas M.D. Anderson Cancer Center. We performed a combined meta-analysis totaling 6,628 melanoma cases and 287,591 controls. Our study replicates 20 of 21 previously known melanoma-loci and confirms the association of the telomerase reverse transcriptase, TERT, with melanoma susceptibility at genome-wide significance. In addition, we uncover a novel polymorphism, rs187843643 (OR = 1.96; 95% CI = [1.54, 2.48]; P = 3.53 x 10-8), associated with melanoma. The SNP rs187842643 lies within a noncoding RNA 177kb downstream of BASP1 (brain associated protein-1). We find that BASP1 expression is suppressed in melanoma as compared with benign nevi, providing additional evidence for a putative role in melanoma pathogenesis.

Indexed as

AdultAgedFemaleGene Expression Regulation, NeoplasticGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansMaleMelanomaMembrane ProteinsMiddle AgedNerve Tissue ProteinsPolymorphism, Single NucleotideRepressor ProteinsSkin NeoplasmsTelomeraseBASP1 protein, humanMembrane ProteinsNerve Tissue ProteinsRepressor ProteinsTelomeraseTERT protein, humanBASP1genome-wide association studymelanomasingle nucleotide polymorphismsusceptibility loci

Identifiers

PMID28212542
PMCPMC5392271
OpenAlexW2588297173

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

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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.