To access publisher's full text version of this article, please click on the hyperlink in Additional Links field or click on the hyperlink at the top of the page marked Files.
This article is open access.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.NCI\SAIC-Frederick, Inc. (SAIC-F) 10XS170
Roswell Park Cancer Institute 10XS171
Science Care Inc. X10S172
Laboratory, Data Analysis and Coordinating Center (LDACC)
HHSN268201000029C
SAIC-F
10ST1035
HHSN261200800001E
Brain Bank
DA006227
DA033684
N01MH000028
University of Geneva
MH090941
MH101814
University of Chicago
MH090951
MH090937
MH101820
MH101825
University of North Carolina-Chapel Hill
MH090936
MH101819
Harvard University
MH090948
Stanford University
MH101782
Washington University St Louis
MH101810
University of Pennsylvania
MH10182
