The spectrum of patched mutations in a collection of Australian basal cellcarcinomas

Inactivating mutations in the human patched (PTCH) gene have been identifie d in both familial and sporadic basal cell carcinomas (BCCs). In some tumor s 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 inactiva ted by loss of heterozygosity. Five novel PTCH polymorphisms were also iden tified. 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. Hum Mutat 16:43-48, 2000. (C) 2000 Wiley- Liss, Inc.