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Mutations in the human homologue of the Drosophila patched gene in esophageal squamous cell carcinoma
Author(s) -
Maesawa Chihaya,
Tamura Gen,
Iwaya Takeshi,
Ogasawara Satoshi,
Ishida Kaoru,
Sato Nobuhiro,
Nishizuka Satoshi,
Suzuki Yasushi,
Ikeda Kenichirou,
Aoki Kiich,
Saito Kazuyoshi,
Satodate Ryoichi
Publication year - 1998
Publication title -
genes, chromosomes and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.754
H-Index - 119
eISSN - 1098-2264
pISSN - 1045-2257
DOI - 10.1002/(sici)1098-2264(199803)21:3<276::aid-gcc15>3.0.co;2-n
Subject(s) - nevoid basal cell carcinoma syndrome , biology , exon , missense mutation , gene , nonsense mutation , loss of heterozygosity , cancer research , microbiology and biotechnology , mutation , tumor suppressor gene , genetics , silent mutation , basal cell carcinoma , allele , carcinogenesis , basal cell , pathology , medicine
The human homologue ( PTCH ) of the Drosophila segment polarity gene patched has recently been identified as a tumor‐suppressor 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–single‐strand 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. Genes Chromosomes Cancer 21:276–279, 1998. © 1998 Wiley‐Liss, Inc.