PTCH mutations and deletions in patients with typical nevoid basal cell carcinoma syndrome and in patients with a suspected genetic predisposition to basal cell carcinoma: a French study
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چکیده
منابع مشابه
PTCH germline mutations in Chinese nevoid basal cell carcinoma syndrome patients.
OBJECTIVES PTCH, the human homologue of the Drosophila segment polarity gene, patched, has been identified as the gene responsible for nevoid basal cell carcinoma syndrome. The aim of this study was to investigate PTCH gene mutation in Chinese patients with nevoid basal cell carcinoma syndrome. MATERIALS AND METHODS DNA was isolated from both odontogenic keratocyst tissue and peripheral blood...
متن کاملNevoid Basal Cell Carcinoma Syndrome: Report from the Zurich Nevoid Basal Cell Carcinoma Syndrome Cohort.
BACKGROUND Nevoid basal cell carcinoma syndrome (NBCCS, Gorlin-Goltz syndrome) presents various symptoms and can disfigure patients. The estimated prevalence is around 1:100,000. OBJECTIVE To systematically investigate the clinical manifestations of NBCCS patients of the Zurich register and compare them with those described in 4 epidemiological studies performed in other countries. METHODS ...
متن کامل[Gorlin syndrome (nevoid basal cell carcinoma syndrome)].
CLINICAL CASE A 77 year-old male patient with Parkinson's disease and senile dementia had many facial basal cell carcinomas and an ectropion of the left eye. When he experienced respiratory difficulty he was diagnosed to have an ameloblastoma in left nostril requiring surgery. DISCUSSION Gorlin syndrome is an autosomal dominant condition characterized by basal cell carcinomas, and skeletal an...
متن کاملNevoid basal cell carcinoma syndrome (Gorlin syndrome)
Nevoid basal cell carcinoma syndrome (NBCCS), also known as Gorlin syndrome, is a hereditary condition characterized by a wide range of developmental abnormalities and a predisposition to neoplasms. The estimated prevalence varies from 1/57,000 to 1/256,000, with a male-to-female ratio of 1:1. Main clinical manifestations include multiple basal cell carcinomas (BCCs), odontogenic keratocysts of...
متن کاملBasal cell carcinoma in a young woman: A case report
Basal cell carcinoma (BCC) is a malignant tumor of epithelial cells that is composed of cells similar to those in the basal area of the epidermis and its appendages. Ninety- five percent of individuals with BCC are between 40 and 79 years old. It rarely occurs in younger individuals. Herein, a 20- year- old woman with type III skin, who had a BCC on her chin is presented. Since the clinic...
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ژورنال
عنوان ژورنال: British Journal of Cancer
سال: 2006
ISSN: 0007-0920,1532-1827
DOI: 10.1038/sj.bjc.6603303