Nonsense mutations in the C−terminal SH2 region of the GTPase activating protein (GAP) gene in human tumours

Eitan Friedman*, Pablo V. Gejman, George A. Martin, Frank McCormick

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

Abstract

GTPase Activating Protein (GAP) is involved in down−regulating normal ras proteins and in the signal transduction pathway of some growth factors. We have screened 188 human tumours for mutations in the catalytic domain and at the C terminal SH2 region GAP. Three nonsense mutations in basal cell carcinomas were detected in the SH2 region and no mutations could be demonstrated in the catalytic domain. We conclude that mutations in the SH2 region of GAP may play a role in tumorigenesis and that inactivating mutations of the GAP catalytic domain do not contribute to tumour development.

Original languageEnglish
Pages (from-to)242-247
Number of pages6
JournalNature Genetics
Volume5
Issue number3
DOIs
StatePublished - Nov 1993
Externally publishedYes

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