ABSENCE OF MUTATION AT THE GAP-RELATED DOMAIN OF THE NEUROFIBROMATOSIS TYPE-1 GENE IN SPORADIC NEUROFIBROSARCOMAS AND OTHER BONE AND SOFT-TISSUE SARCOMAS

Citation
L. Gomez et al., ABSENCE OF MUTATION AT THE GAP-RELATED DOMAIN OF THE NEUROFIBROMATOSIS TYPE-1 GENE IN SPORADIC NEUROFIBROSARCOMAS AND OTHER BONE AND SOFT-TISSUE SARCOMAS, Cancer genetics and cytogenetics, 81(2), 1995, pp. 173-174
Citations number
16
Categorie Soggetti
Oncology,"Genetics & Heredity
ISSN journal
01654608
Volume
81
Issue
2
Year of publication
1995
Pages
173 - 174
Database
ISI
SICI code
0165-4608(1995)81:2<173:AOMATG>2.0.ZU;2-X
Abstract
The NF1 gene encodes neurofibromin, a GTPase-activating protein contai ning a GAP-related domain (NF1-GRD) that is capable of downregulating ras by stimulating ras intrinsic GTPase activity. We tested 44 sarcoma s, nine of which corresponded to sporadic neurofibrosarcomas, for muta tions at the NF1-GRD by the polymerase chain reaction-single strand co nformation polymorphism (PCR-SSCP) technique, finding no mutation in e very sample tested. We suggest that inactivation of the NF1-GRD by gen e mutation seems not to be an important event in the tumorigenesis of sarcomas.