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| SOMATIC DELETION OF THE NEUROFIBROMATOSIS TYPE-1 GENE IN A NEUROFIBROSARCOMA SUPPORTS A TUMOR SUPPRESSOR GENE HYPOTHESIS |
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| Author(s): LEGIUS E, MARCHUK DA, COLLINS FS, GLOVER TW |
| Source: NATURE GENETICS Volume: 3 Issue: 2 Pages: 122-126 Published: FEB 1993 |
| Times Cited: 264 References: 30 |
| Abstract: Individuals with neurofibromatosis type 1 (NF1) have an increased risk of developing benign and malignant tumours. The NF1 gene is thought to be a tumour suppressor gene, yet no direct proof at the molecular level exists to support this hypothesis. Here we describe a neurofibrosarcoma from a patient with NF1 with loss of heterozygosity for all chromosome 17 polymorphisms tested. On the remaining chromosome 17 homologue, a 200 kilobase (kb) tumour specific deletion of NF1 was demonstrated. This is the first example of a homozygous inactivation of NF1 at the molecular level in a malignant tumour from an NF1 patient and the results strongly support the tumour suppressor gene hypothesis for this disease. |
| Document Type: Article |
| Language: English |
Addresses:
1. UNIV MICHIGAN, DEPT PEDIAT, ANN ARBOR, MI 48109 USA
2. UNIV MICHIGAN, DEPT HUMAN GENET, ANN ARBOR, MI 48109 USA
3. UNIV MICHIGAN, HOWARD HUGHES MED INST, ANN ARBOR, MI 48109 USA
4. UNIV MICHIGAN, DEPT INTERNAL MED, ANN ARBOR, MI 48109 USA |
| Publisher: NATURE PUBLISHING CO, 345 PARK AVE SOUTH, NEW YORK, NY 10010-1707 |
| Subject Category: Genetics & Heredity |
| IDS Number: KL010 |
| ISSN: 1061-4036 |
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| | | | | | | | | Record from Web of Science® | | | | | | | | | |