ArticleNature communications2015
New basal cell carcinoma susceptibility loci.
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Article in Nature communications, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 42 papers, 6 of them syntheses that pooled it.
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0cells of the map it votes in
42citing papers in PubMed, 6 pooled it
4.2field-weighted citation impact, top 5% of its field
What it found
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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.
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.
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Who cites it
42 citing papers in PubMed, 6 syntheses or guidelines pooled it, 74 citations in OpenAlex.
- Multi-ancestry genome-wide meta-analysis identifies novel basal cell carcinoma loci and shared genetic effects with squamous cell carcinoma.Communications biology · 2024Pooled it
- Cross-cancer pleiotropic analysis identifies three novel genetic risk loci for colorectal cancer.Human molecular genetics · 2023Pooled it
- Genome-wide association meta-analysis identifies pleiotropic risk loci for aerodigestive squamous cell cancers.PLoS genetics · 2021Pooled it
- Genome-wide meta-analysis identifies eight new susceptibility loci for cutaneous squamous cell carcinoma.Nature communications · 2020Pooled it
- Combined analysis of keratinocyte cancers identifies novel genome-wide loci.Human molecular genetics · 2019Pooled it
- New insights into the genetics of primary open-angle glaucoma based on meta-analyses of intraocular pressure and optic disc characteristics.Human molecular genetics · 2017Pooled it
- Trial
- Models of biobanks and implications for reproductive health innovation.Monash bioethics review · 2015Trial
- Does Basal Cell Carcinoma Arise from a Precursor Lesion?The Journal of investigative dermatology · 2026Review
- Functional characterization of a multi-cancer risk locus on chromosome band 2q33.1 nearbioRxiv : the preprint server for biology · 2026Article
- scVMAP: a comprehensive platform for integrating single-cell chromatin accessibility regions with causal variants.Nucleic acids research · 2026Article
- Genome-wide association study of 398,238 women unveils seven loci associated with high-grade serous ovarian cancer.NPJ genomic medicine · 2025Article
- Article
- Article
- Implementation of individualised polygenic risk score analysis: a test case of a family of four.BMC medical genomics · 2022Article
- PROBER identifies proteins associated with programmable sequence-specific DNA in living cells.Nature methods · 2022Article
- Prediction of Adrenocortical Carcinoma Relapse and Prognosis with a Set of Novel Multigene Panels.Cancers · 2022Article
- Whole‑genome identification and systematic analysis of lncRNA‑mRNA co‑expression profiles in patients with cutaneous basal cell carcinoma.Molecular medicine reports · 2021Article
- Review
- Article
Corrections and comments
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Authors and funding
43 authors at 19 institutions in 8 countries.
Simon N StaceydeCODE Genetics/AMGEN, Sturlugata 8, Reykjavik 101, Iceland.
Hannes HelgasondeCODE Genetics/AMGEN, Sturlugata 8, Reykjavik 101, Iceland.
Sigurjon A GudjonssondeCODE Genetics/AMGEN, Sturlugata 8, Reykjavik 101, Iceland.
Gudmar ThorleifssondeCODE Genetics/AMGEN, Sturlugata 8, Reykjavik 101, Iceland.
Florian ZinkdeCODE Genetics/AMGEN, Sturlugata 8, Reykjavik 101, Iceland.
Asgeir SigurdssondeCODE Genetics/AMGEN, Sturlugata 8, Reykjavik 101, Iceland.
Birte KehrdeCODE Genetics/AMGEN, Sturlugata 8, Reykjavik 101, Iceland.
Julius GudmundssondeCODE Genetics/AMGEN, Sturlugata 8, Reykjavik 101, Iceland.
Patrick SulemdeCODE Genetics/AMGEN, Sturlugata 8, Reykjavik 101, Iceland.
Bardur Sigurgeirsson1] Landspitali-University Hospital, Reykjavik 101, Iceland [2] Faculty of Medicine, University of Iceland, Reykjavik 101, Iceland.
Kristrun R Benediktsdottir1] Landspitali-University Hospital, Reykjavik 101, Iceland [2] Faculty of Medicine, University of Iceland, Reykjavik 101, Iceland.
Kristin Thorisdottir1] Landspitali-University Hospital, Reykjavik 101, Iceland [2] Faculty of Medicine, University of Iceland, Reykjavik 101, Iceland.
Rafn Ragnarsson1] Landspitali-University Hospital, Reykjavik 101, Iceland [2] Faculty of Medicine, University of Iceland, Reykjavik 101, Iceland.
Victoria FuentelsazDivision of Dermatology, Gregorio Marañón Hospital, Madrid 28007, Spain.
Cristina CorrederaDivision of Dermatology, Quiron Hospital, 50009 Zaragoza, Spain.
Yolanda GilaberteDivision of Dermatology, San Jorge General Hospital, Huesca 22004, Spain.
Matilde GrasaDivision of Dermatology, University Hospital, Zaragoza 50009, Spain.
Dolores PlanellesLaboratory of Histocompatibility-Molecular Biology, Centro de Transfusión de la Comunidad Valenciana, Avenida del Cid, 65-A, Valencia 46014, Spain.
Onofre Sanmartin1] Department of Oncology, Instituto Valenciano de Oncologia, Valencia 46009, Spain [2] Universidad Católica de Valencia, Valencia 46003, Spain.
Peter RudnaiDepartment of Environmental Epidemiology, National Institute of Environmental Health, Budapest H-1450, Hungary.
Eugene GurzauHealth Department, Environmental Health Centre, Babes Bolyai University, Cluj, RO-Cluj-Napoca, Romania.
Kvetoslava KoppovaDepartment of Environmental Health, Regional Authority of Public Health, Banska Bystrica SK-975 56, Slovakia.
Bjørn A NexøDepartment of Biomedicine, University of Aarhus, Aarhus C DK-8000, Denmark.
Anne TjønnelandDanish Cancer Society Research Centre, DK-2100 Copenhagen Ø, Denmark.
Kim OvervadDepartment of Public Health, Institute of Epidemiology and Social Medicine, University of Aarhus, Aarhus C DK-8000, Denmark.
Jon G Jonasson1] Landspitali-University Hospital, Reykjavik 101, Iceland [2] Faculty of Medicine, University of Iceland, Reykjavik 101, Iceland [3] Icelandic Cancer Registry, Skogarhlid 8, Reykjavik 105, Iceland.
Laufey Tryggvadottir1] Faculty of Medicine, University of Iceland, Reykjavik 101, Iceland [2] Icelandic Cancer Registry, Skogarhlid 8, Reykjavik 105, Iceland.
Hrefna JohannsdottirdeCODE Genetics/AMGEN, Sturlugata 8, Reykjavik 101, Iceland.
Anna M KristinsdottirdeCODE Genetics/AMGEN, Sturlugata 8, Reykjavik 101, Iceland.
Hreinn StefanssondeCODE Genetics/AMGEN, Sturlugata 8, Reykjavik 101, Iceland.
Gisli MassondeCODE Genetics/AMGEN, Sturlugata 8, Reykjavik 101, Iceland.
Olafur T MagnussondeCODE Genetics/AMGEN, Sturlugata 8, Reykjavik 101, Iceland.
Bjarni V Halldorsson1] deCODE Genetics/AMGEN, Sturlugata 8, Reykjavik 101, Iceland [2] Institute of Biomedical and Neural Engineering, School of Science and Engineering, Reykjavik University, Reykjavik 101, Iceland.
Augustine KongdeCODE Genetics/AMGEN, Sturlugata 8, Reykjavik 101, Iceland.
Thorunn RafnardeCODE Genetics/AMGEN, Sturlugata 8, Reykjavik 101, Iceland.
Unnur Thorsteinsdottir1] deCODE Genetics/AMGEN, Sturlugata 8, Reykjavik 101, Iceland [2] Faculty of Medicine, University of Iceland, Reykjavik 101, Iceland.
Ulla VogelNational Research Centre for the Working Environment, Copenhagen DK-2100, Denmark.
Rajiv KumarDivision of Molecular Genetic Epidemiology, German Cancer Research Centre, Heidelberg D-69120, Germany.
Eduardo Nagore1] Department of Oncology, Instituto Valenciano de Oncologia, Valencia 46009, Spain [2] Universidad Católica de Valencia, Valencia 46003, Spain.
José I MayordomoDivision of Medical Oncology, University of Colorado, Aurora, Colorado 80045, USA.
Daniel F GudbjartssondeCODE Genetics/AMGEN, Sturlugata 8, Reykjavik 101, Iceland.
Jon H Olafsson1] Landspitali-University Hospital, Reykjavik 101, Iceland [2] Faculty of Medicine, University of Iceland, Reykjavik 101, Iceland.
Kari Stefansson1] deCODE Genetics/AMGEN, Sturlugata 8, Reykjavik 101, Iceland [2] Faculty of Medicine, University of Iceland, Reykjavik 101, Iceland.
deCODE Genetics (Iceland) · ISReykjavík University · ISAarhus University · DKNational University Hospital of Iceland · ISUniversity of Iceland · ISBabeș-Bolyai University · RODanish Cancer Society · DKFundación Instituto Valenciano de Oncología · ESGerman Cancer Research Center · DEHospital General San Jorge · ESHospital General Universitario Gregorio Marañón · ESHospital Quirónsalud Barcelona · ESIcelandic Cancer Society · ISNational Research Centre for the Working Environment · DKOrszagos Kornyezetegeszsegugyi Intezet · HUPublic Health Authority of the Slovak Republic · SKUniversidad de Zaragoza · ESUniversity of Colorado Anschutz Medical Campus · USValencia Catholic University Saint Vincent Martyr · ES
Funding
LIMBIC &MEDULLARY MECH. IN COCAINE-RELATED SUDDEN DEATHR01DA006227 · NIDA · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI MASH, DEBORAH C. · 1990 to 2012
$3.7MEpigenetic Marks of Cocaine AddictionR01DA033684 · NIDA · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI MASH, DEBORAH C., TURECKI, GUSTAVO · 2011 to 2015
$3.6MMethods for high-resolution analysis of genetic effects on gene expressionR01MH101814 · NIMH · UNIVERSITY OF GENEVA · PI BUSTAMANTE, CARLOS DANIEL, DERMITZAKIS, EMMANOUIL · 2013 to 2016
$2.3MHarnessing GTEx to Create Transcriptome Knowledge and Inform Disease BiologyR01MH101820 · NIMH · UNIVERSITY OF CHICAGO · PI COX, NANCY J, NICOLAE, DAN LIVIU · 2013 to 2015
$2.3MIdentification and validation of cell specific eQTLs by Bayesian modelingR01MH101822 · NIMH · UNIVERSITY OF PENNSYLVANIA · PI BROWN, CHRISTOPHER DAVID, ENGELHARDT, BARBARA · 2013 to 2016
$1.9MGenetic Regulation of Gene Expression and its Impact on Phenotypes - SupplementR01MH101782 · NIMH · STANFORD UNIVERSITY · PI SABATTI, CHIARA · 2013 to 2016
$1.3MMODELING THE EFFECTS OF STRUCTURAL VARIATION IN GTEX DATA AND MENDELIAN DISEASER01MH101810 · NIMH · WASHINGTON UNIVERSITY · PI CONRAD, DONALD F. · 2013 to 2016
$1.3MSystems approaches to link tissue-specific expression to diseaseR01MH101819 · NIMH · NORTH CAROLINA STATE UNIVERSITY RALEIGH · PI NOBEL, ANDREW B, WRIGHT, FRED A. · 2013 to 2015
$1.3MStatistical analysis of gene expression quantitative trait loci (eQTL)R01MH101825 · NIMH · UNIVERSITY OF CHICAGO · PI STEPHENS, MATTHEW · 2013 to 2015
$1.1MStatistical analysis of gene expression quantitative trait loci (eQTL)R01MH090951 · NIMH · UNIVERSITY OF CHICAGO · PI PRITCHARD, JONATHAN K · 2010 to 2012
$873kMethods for high-resolution analysis of genetic effects on gene expressionR01MH090941 · NIMH · UNIVERSITY OF GENEVA · PI DERMITZAKIS, EMMANOUIL, GUIGO, RODERIC · 2010 to 2012
$863kFACILITATING GTEx, DISEASE, AND GxE ANALYSES VIA FAST EXPRESSION (e)QTL MAPPINGR01MH090936 · NIMH · UNIV OF NORTH CAROLINA CHAPEL HILL · PI NOBEL, ANDREW B, RUSYN, IVAN · 2010 to 2012
$847kCCR NIH HHS HHSN261200800001CNCI NIH HHS HHSN261200800001ENHLBI NIH HHS HHSN268201000029CNIDA NIH HHS DA006227NIDA NIH HHS DA033684NIDA NIH HHS R01 DA006227NIDA NIH HHS R01 DA033684NIMH NIH HHS MH090936NIMH NIH HHS MH090937NIMH NIH HHS MH090941NIMH NIH HHS MH090948NIMH NIH HHS MH090951NIMH NIH HHS MH101782NIMH NIH HHS MH101810NIMH NIH HHS MH101814NIMH NIH HHS MH101819NIMH NIH HHS MH101820NIMH NIH HHS MH101822NIMH NIH HHS MH101825NIMH NIH HHS N01MH000028NIMH NIH HHS R01 MH090936NIMH NIH HHS R01 MH090937NIMH NIH HHS R01 MH090941NIMH NIH HHS R01 MH090948NIMH NIH HHS R01 MH090951NIMH NIH HHS R01 MH101782NIMH NIH HHS R01 MH101810NIMH NIH HHS R01 MH101814NIMH NIH HHS R01 MH101819NIMH NIH HHS R01 MH101820NIMH NIH HHS R01 MH101822NIMH NIH HHS R01 MH101825
Abstract
In an ongoing screen for DNA sequence variants that confer risk of cutaneous basal cell carcinoma (BCC), we conduct a genome-wide association study (GWAS) of 24,988,228 SNPs and small indels detected through whole-genome sequencing of 2,636 Icelanders and imputed into 4,572 BCC patients and 266,358 controls. Here we show the discovery of four new BCC susceptibility loci: 2p24 MYCN (rs57244888[C], OR=0.76, P=4.7 × 10(-12)), 2q33 CASP8-ALS2CR12 (rs13014235[C], OR=1.15, P=1.5 × 10(-9)), 8q21 ZFHX4 (rs28727938[G], OR=0.70, P=3.5 × 10(-12)) and 10p14 GATA3 (rs73635312[A], OR=0.74, P=2.4 × 10(-16)). Fine mapping reveals that two variants correlated with rs73635312[A] occur in conserved binding sites for the GATA3 transcription factor. In addition, expression microarrays and RNA-seq show that rs13014235[C] and a related SNP rs700635[C] are associated with expression of CASP8 splice variants in which sequences from intron 8 are retained.
Indexed as
AdolescentAdultAgedAged, 80 and overBasal Cell CarcinomaCase-Control StudiesCaspase 8ChildFemaleGATA3 Transcription FactorGenetic Predisposition to DiseaseGenome-Wide Association StudyHomeodomain ProteinsHumansIcelandMaleCASP8 protein, humanCaspase 8FLACC1 protein, humanGATA3 protein, humanGATA3 Transcription FactorHomeodomain ProteinsMembrane ProteinsMYCN protein, humanN-Myc Proto-Oncogene ProteinNuclear ProteinsOncogene ProteinsProteinsTranscription FactorsZFHX4 protein, human
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