TP53 and Basal Cell Carcinomas

Researchers identified a variant that confers susceptibility to BCCs and other cancers.

Based on the presence of mutations found in sporadic basal cell carcinoma (BCC) and those arising in the context of basal cell nevus (Gorlin) syndrome, researchers have established TP53, PTCH1, PTCH2, and SUFU as important susceptibility genes in BCC pathogenesis. To identify new risk variants for cutaneous BCC, investigators performed a genome-wide association study (GWAS) using 16 million single-nucleotide polymorphisms identified through the DNA sequencing of 457 Icelanders.

The strongest association with BCC risk (odds ratio = 2.36) was with a polymorphism in the polyadenylation sequence of TP53. Polyadenylation (the addition of adenines to the ends of messenger RNA [mRNA] transcripts) promotes transport and stability, thus enhancing tra…

Reviewing Author

Kenneth Y. Tsai, MD, PhD

Disclosures

Grant / Research support American Association for Cancer Research – Landon Foundation; National Institutes of Health/National Cancer Institute; Cancer Prevention Research Institute of Texas

Editorial BoardsJournal of the American Academy of Dermatology

Kenneth Y. Tsai, MD, PhD

Disclosures

Grant / Research support American Association for Cancer Research – Landon Foundation; National Institutes of Health/National Cancer Institute; Cancer Prevention Research Institute of Texas

Editorial BoardsJournal of the American Academy of Dermatology

TP53 and Basal Cell Carcinomas

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Reviewing Author