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Japanese Journal of Clinical Oncology 33:47-50 (2003)
© 2003 Foundation for Promotion of Cancer Research

A New Germline Mutation of the PTCH Gene in a Japanese Patient with Nevoid Basal Cell Carcinoma Syndrome Associated with Meningioma

Genshu Tate, Min Li, Takao Suzuki and Toshiyuki Mitsuya+

Department of Surgical Pathology, Showa University Fujigaoka Hospital, Yokohama, Japan

We employed polymerase chain reaction and DNA sequencing analysis to characterize the PTCH gene in a Japanese nevoid basal cell carcinoma syndrome (NBCCS) patient suffering from meningioma, multiple basal cell carcinoma and epidermal cysts. Direct sequence analyses revealed a novel single base deletion at nucleotide 2613 in exon 16 (2613delC) in one PTCH allele, resulting in the frame shift and the introduction of a premature termination codon in this mutated allele.

+ For reprints and all correspondence: Genshu Tate, Department of Surgical Pathology, Showa University Fujigaoka Hospital, Fujigaoka 1–30, Aoba-ku, Yokohama 227-8501, Japan


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