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Updated: Apr 15, 2026
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Cell Population Analyses During Skin Carcinogenesis
Published on: August 21, 2013
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New basal cell carcinoma susceptibility loci
Simon N Stacey1, Hannes Helgason1, Sigurjon A Gudjonsson1
1deCODE Genetics/AMGEN, Sturlugata 8, Reykjavik 101, Iceland.
Nature Communications
|April 10, 2015
Summary
Researchers identified four new genetic loci associated with basal cell carcinoma (BCC) risk. This genome-wide association study (GWAS) provides crucial insights into the genetic underpinnings of this common skin cancer.
Area of Science:
- Genetics
- Dermatology
- Cancer Research
Background:
- Cutaneous basal cell carcinoma (BCC) is a prevalent form of skin cancer.
- Identifying genetic risk factors is crucial for understanding BCC development and prevention.
- Previous studies have identified several BCC susceptibility loci.
Purpose of the Study:
- To discover novel DNA sequence variants associated with the risk of developing cutaneous basal cell carcinoma (BCC).
- To perform a genome-wide association study (GWAS) to identify new BCC susceptibility loci.
Main Methods:
- Conducted a genome-wide association study (GWAS) using whole-genome sequencing data from 2,636 Icelanders.
- Analyzed 24,988,228 single nucleotide polymorphisms (SNPs) and small insertions/deletions (indels).
- Imputed genetic data into a larger cohort of 4,572 BCC patients and 266,358 controls.
Main Results:
- Discovered four new BCC susceptibility loci: MYCN at 2p24, CASP8-ALS2CR12 at 2q33, ZFHX4 at 8q21, and GATA3 at 10p14.
- Fine mapping indicated that variants near GATA3 affect its transcription factor binding sites.
- Expression analysis revealed that variants near CASP8 influence the expression of specific CASP8 splice variants.
Conclusions:
- The study successfully identified four novel genetic loci contributing to BCC susceptibility.
- These findings enhance our understanding of the genetic architecture of basal cell carcinoma.
- Further research into these loci may reveal new therapeutic targets for BCC.
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