Newly Discovered Genome Variations Predispose to BCC

Common versions of two single-letter variations in the human genome, single nucleotide polymorphisms (SNPs), confer risk of basal cell carcinoma (BCC), the most common cancer among people of European ancestry.

The SNPs, both located on chromosome 1, may provide new insight into an underlying biological mechanism causing BCC, independent of the impact of exposure to ultraviolet (UV) radiation in sunlight. Approximately 2% of people of European descent carry two copies of the risk versions of both SNPs, and are at a 170% greater risk of BCC than those who do not carry the risk variants.

The SNPs were discovered through the analysis of more than 300,000 SNPs across the genomes of more than 900 Icelanders with BCC and more than 33,000 control subjects. The SNPs most strongly correlated with BCC were then validated through the analysis of additional Icelandic and Eastern European cohorts of approximately 4,000 cases and controls.

The deCODE genetics (Reykjavik, Iceland) team carried out the analyses, then analyzed data from more than 42,000 individuals from Iceland, Sweden, and Spain and demonstrated that these novel variants conferring risk of BCC do not correlate with either fair pigmentation or with risk of cutaneous melanoma.

"These two SNPs can be used to enable individuals to better understand their own susceptibility to BCC and thus to take measures to lower their environmental and overall risk, and we are pleased to have added them already to our deCODEme service," said Kari Stefansson, CEO of deCODE and senior author of the study.

A report of the study appeared in the in the online edition of Nature Genetics on October 12, 2008.

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