Mutations in the human homologue of the Drosophila patched gene in esophageal squamous cell carcinoma

✍ Scribed by Chihaya Maesawa; Gen Tamura; Takeshi Iwaya; Satoshi Ogasawara; Kaoru Ishida; Nobuhiro Sato; Satoshi Nishizuka; Yasushi Suzuki; Kenichirou Ikeda; Kiich Aoki; Kazuyoshi Saito; Ryoichi Satodate

• Publisher: John Wiley and Sons
• Year: 1998
• Tongue: English
• Weight: 110 KB
• Volume: 21
• Category: Article
• ISSN: 1045-2257
• DOI: 10.1002/(sici)1098-2264(199803)21:3<276::aid-gcc15>3.0.co;2-n

✦ Synopsis

The human homologue (PTCH) of the Drosophila segment polarity gene patched has recently been identified as a tumorsuppressor gene for nevoid basal cell carcinoma syndrome and for sporadic basal cell carcinomas of the skin. We analyzed 30 esophageal squamous cell carcinomas (ESCC) for intrageneic mutations of the PTCH gene by polymerase chain reaction-singlestrand conformation polymorphism analysis followed by DNA sequencing. We identified two somatic PTCH mutations (7%) in 30 ESCC. These were a nonsense mutation (CAG to TAG at codon 361) in exon 8 and a missense mutation (CAG to CTG, Gln to Leu at codon 816) in exon 14. These tumors exhibited loss of heterozygosity at the polymorphic site of the PTCH gene. These results indicate that inactivation of the PTCH gene via a two-hit mechanism occurs in a subset of ESCC.