title: Genome-wide association study identifies 14 novel risk alleles associated with basal cell carcinoma.
abstract: Basal cell carcinoma (BCC) is the most common cancer worldwide with an annual incidence of 2.8 million cases in the United States alone. Previous studies have demonstrated an association between 21 distinct genetic loci and BCC risk. Here, we report the results of a two-stage genome-wide association study of BCC, totalling 17,187 cases and 287,054 controls. We confirm 17 previously reported loci and identify 14 new susceptibility loci reaching genome-wide significance (P<5 × 10(-8), logistic regression). These newly associated SNPs lie within predicted keratinocyte regulatory elements and in expression quantitative trait loci; furthermore, we identify candidate genes and non-coding RNAs involved in telomere maintenance, immune regulation and tumour progression, providing deeper insight into the pathogenesis of BCC.
authors.affiliation: Department of Dermatology, Stanford University School of Medicine, Stanford, California 94305, USA.
authors.forename: Harvind S
authors.initials: HS
authors.lastname: Chahal
authors.affiliation: Department of Epidemiology, Richard M. Fairbanks School of Public Health, Melvin &Bren Simon Cancer Center, Indiana University, Indianapolis, Indiana 46202, USA.
authors.forename: Wenting
authors.initials: W
authors.lastname: Wu
authors.affiliation: Department of Dermatology, Stanford University School of Medicine, Stanford, California 94305, USA.
authors.forename: Katherine J
authors.initials: KJ
authors.lastname: Ransohoff
authors.affiliation: Department of Medicine (Quantitative Sciences Unit), Stanford University School of Medicine, Stanford, California 94305, USA.
authors.forename: Lingyao
authors.initials: L
authors.lastname: Yang
authors.affiliation: Department of Medicine (Quantitative Sciences Unit), Stanford University School of Medicine, Stanford, California 94305, USA.
authors.forename: Haley
authors.initials: H
authors.lastname: Hedlin
authors.affiliation: Department of Medicine (Quantitative Sciences Unit), Stanford University School of Medicine, Stanford, California 94305, USA.
authors.forename: Manisha
authors.initials: M
authors.lastname: Desai
authors.affiliation: Department of Epidemiology, Richard M. Fairbanks School of Public Health, Melvin &Bren Simon Cancer Center, Indiana University, Indianapolis, Indiana 46202, USA.
authors.forename: Yuan
authors.initials: Y
authors.lastname: Lin
authors.affiliation: Department of Epidemiology, Richard M. Fairbanks School of Public Health, Melvin &Bren Simon Cancer Center, Indiana University, Indianapolis, Indiana 46202, USA.|Department of Epidemiology and Biostatistics, Tianjin Medical University Cancer Hospital and Institute, National Clinical Research Center for Cancer, Tianjin &Key Laboratory of Cancer Prevention and Therapy, Tianjin, China.
authors.forename: Hong-Ji
authors.initials: HJ
authors.lastname: Dai
authors.affiliation: Department of Dermatology, Warren Alpert Medical School, Brown University, Providence, Rhode Island 02903, USA.|Department of Epidemiology, School of Public Health, Brown University, Providence, Rhode Island 02903, USA.|Channing Division of Network Medicine, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts 02115, USA.
authors.forename: Abrar A
authors.initials: AA
authors.lastname: Qureshi
authors.affiliation: Department of Dermatology, Warren Alpert Medical School, Brown University, Providence, Rhode Island 02903, USA.|Department of Epidemiology, School of Public Health, Brown University, Providence, Rhode Island 02903, USA.
authors.forename: Wen-Qing
authors.initials: WQ
authors.lastname: Li
authors.affiliation: Department of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, Massachusetts 02115, USA.|Department of Biostatistics, Harvard T.H. Chan School of Public Health, Boston, Massachusetts 02115, USA.
authors.forename: Peter
authors.initials: P
authors.lastname: Kraft
authors.affiliation: 23andMe Inc., Mountain View, California 94040, USA.
authors.forename: David A
authors.initials: DA
authors.lastname: Hinds
authors.affiliation: Department of Dermatology, Stanford University School of Medicine, Stanford, California 94305, USA.
authors.forename: Jean Y
authors.initials: JY
authors.lastname: Tang
authors.affiliation: Department of Epidemiology, Richard M. Fairbanks School of Public Health, Melvin &Bren Simon Cancer Center, Indiana University, Indianapolis, Indiana 46202, USA.|Department of Epidemiology and Biostatistics, Tianjin Medical University Cancer Hospital and Institute, National Clinical Research Center for Cancer, Tianjin &Key Laboratory of Cancer Prevention and Therapy, Tianjin, China.|Department of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, Massachusetts 02115, USA.
authors.forename: Jiali
authors.initials: J
authors.lastname: Han
authors.affiliation: Department of Dermatology, Stanford University School of Medicine, Stanford, California 94305, USA.
authors.forename: Kavita Y
authors.initials: KY
authors.lastname: Sarin
mesh_terms: D000328:Adult; D000483:Alleles; D002280:Basal Cell Carcinoma / Q000235:genetics* / Q000276:immunology / Q000473:pathology; D016022:Case-Control Studies; D018450:Disease Progression; D005260:Female; D020022:Genetic Predisposition to Disease; D055106:Genome-Wide Association Study; D005838:Genotype; D006801:Humans; D015603:Keratinocytes / Q000276:immunology / Q000378:metabolism; D008297:Male; D008875:Middle Aged; D040641:Quantitative Trait Loci; D022661:RNA, Untranslated / Q000235:genetics; D012867:Skin / Q000166:cytology / Q000473:pathology; D012878:Skin Neoplasms / Q000235:genetics* / Q000276:immunology / Q000473:pathology; D059505:Telomere Homeostasis / Q000235:genetics
chemical_list: D022661:RNA, Untranslated