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

Authors: Tate, Genshu; Li, Min; Suzuki, Takao; Mitsuya, Toshiyuki

Source: Japanese Journal of Clinical Oncology, Volume 33, Number 1, 1 January 2003 , pp. 47-50(4)

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Abstract:

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.

Document Type: Research article

Publication date: 2003-01-01

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JJCO was established in 1971 as the first journal from Japan to publish clinical research on cancer in English. It was a biannual journal for the first 11 years, and as the number of submissions increased, it became quarterly in 1983 and bimonthly in 1991. Since 1998, the JJCO has been published monthly.