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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 |
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| Author(s): Aszterbaum M, Rothman A, Johnson RL, Fisher M, Xie JW, Bonifas JM, Zhang XL, Scott MP, Epstein EH |
| Source: JOURNAL OF INVESTIGATIVE DERMATOLOGY Volume: 110 Issue: 6 Pages: 885-888 Published: JUN 1998 |
| Times Cited: 82 References: 34 |
| Abstract: 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 carcinomas, and seven basal cell nevus syndrome-associated basal cell carcinomas. This screen identified mutations located in eight exons in 13 of the basal cell nevus syndrome patients and in three of the tumors. The most common mutations were frameshifts resulting in premature chain termination. These results provide further evidence for the crucial role of PTC as a tumor suppressor in human keratinocytes. |
| Document Type: Article |
| Language: English |
| Reprint Address: Epstein, EH (reprint author), San Francisco Gen Hosp, Bldg 100 Room 269,1001 Potrero, San Francisco, CA 94110 USA |
Addresses:
1. Univ Calif San Francisco, Dept Dermatol, San Francisco, CA 94143 USA
2. Stanford Univ, Sch Med, Howard Hughes Med Inst, Dept Dev Biol, Stanford, CA 94305 USA
3. Stanford Univ, Sch Med, Howard Hughes Med Inst, Dept Genet, Stanford, CA 94305 USA |
| Publisher: BLACKWELL SCIENCE INC, 350 MAIN ST, MALDEN, MA 02148 USA |
| Subject Category: Dermatology |
| IDS Number: ZN928 |
| ISSN: 0022-202X |
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| | | | | | | | | Record from Web of Science® | | | | | | | | | |