The spectrum of Patched mutations in a collection of Australian basal cell carcinomas

Timothy Evans, Waranya Boonchai, Susan Shanley, Ian Smyth, Susan Gillies, Kylie Georgas, Brandon Wainwright, Georgia Chenevix-Trench, Carol Wicking

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19 Citations (Scopus)

Abstract

Inactivating mutations in the human patched (PTCH) gene have been identified in both familial and sporadic basal cell carcinomas (BCCs). In some tumors mutations have been detected in both alleles thereby supporting the role of PTCH as a tumor Suppressor gene. We have analyzed 22/23 coding exons of PTCH for mutations in 44 sporadic BCCs, and detected 10 novel mutations in nine tumors. In two of the mutant tumors the remaining allele was inactivated by loss of heterozygosity. Five novel PTCH polymorphisms were also identified. Most of the variations found were C>T substitutions at dipyrimidine sites, supporting previous studies which indicate a role for ultraviolet-B in the genesis of sporadic BCCs. (C) 2000 Wiley-Liss, Inc.

Original languageEnglish
Pages (from-to)43-48
Number of pages6
JournalHuman Mutation
Volume16
Issue number1
DOIs
Publication statusPublished - 2000
Externally publishedYes

Keywords

  • Arsenic
  • Basal cell carcinoma
  • BCC
  • NBCCS
  • Patched
  • PTCH

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