A genetic variant associated with cutaneous basal cell carcinoma — the most common cancer in people of European ancestry — is reported this week in Nature Genetics.
Simon Stacey and Kari Stefansson and colleagues report sequencing the entire genomes of 457 Icelanders, which led to the identification of 16 million single nucleotide polymorphisms. They used this data along with information on Icelandic genealogy to analyze a previously reported genome-wide association study of basal cell carcinoma (BCC) in Icelanders. They identify an associated variant in the 3′ untranslated region of TP53 that results in impaired processing of TP53 mRNA.
They go on to replicate the association with BCC in additional Icelanders and in samples from other European countries. They also report association of this TP53 variant with prostate cancer and colorectal adenoma.