Identification of Mutations in the Human PATCHED Gene in Sporadic Basal Cell Carcinomas and in Patients with the Basal Cell Nevus Syndrome

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Identification of mutations in the human PATCHED gene in sporadic basal cell carcinomas and in patients with the basal cell nevus syndrome.

Mutations in PATCHED (PTC), the human homolog of the Drosophila patched gene, have been identified in most exons of the gene in patients with the basal cell nevus syndrome and in sporadic basal cell carcinomas. We have screened the 23 PTC exons for mutations using single strand conformation polymorphism analysis of DNA from 86 basal cell nevus syndrome probands, 26 sporadic basal cell carcinoma...

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Acrochordon-like basal cell carcinomas in patients with basal cell nevus syndrome.

Basal cell nevus syndrome is an autosomal dominant disorder characterized by multiple basal cell carcinomas, along with numerous other documented clinical features. Acrochordons (or skin tags) are common benign neoplasms that are appropriately left untreated in most patients. We describe two patients with known BCNS who were found to have multiple BCCs that clinically resembled acrochordons. Ou...

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High levels of patched gene mutations in basal-cell carcinomas from patients with xeroderma pigmentosum.

Recently, hptc, a human gene homologous to the Drosophila segment polarity gene patched (ptc), has been implicated in the nevoid basal-cell carcinoma (BCC) syndrome, and somatic mutations of hptc also have been found in sporadic BCCs, the most frequent cancers found in the white population. We have analyzed the hptc gene, postulated to be a tumor suppressor gene, in 22 BCCs from patients with t...

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15 صفحه اول

Value of CD10 Expression in Differentiating Cutaneous Basal from Squamous Cell Carcinomas and Basal Cell Carcinoma from Trichoepithelioma

Background: In addition to the well-defined histological criteria for squamous cell carcinoma (SCC) and basal cell carcinoma (BCC), immunohistochemical techniques can be used in difficult cases for their differentiation. As differential diagnosis between trichoepithelioma (TE) and BCC is sometimes difficult for the clinician and the pathologist, CD10 may be a useful marker for definite diagnosi...

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ژورنال

عنوان ژورنال: Journal of Investigative Dermatology

سال: 1998

ISSN: 0022-202X

DOI: 10.1046/j.1523-1747.1998.00222.x