E. Friedman et al., NONSENSE MUTATIONS IN THE C-TERMINAL SH2 REGION OF THE GTPASE-ACTIVATING PROTEIN (GAP) GENE IN HUMAN TUMORS, Nature genetics, 5(3), 1993, pp. 242-247
GTPase Activating Protein (GAP) is involved in down-regulating normal
ras proteins and in the signal transduction pathway of some growth fac
tors. We have screened 188 human tumours for mutations in the catalyti
c domain and at the C terminal SH2 region GAP. Three nonsense mutation
s in basal cell carcinomas were detected in the SH2 region and no muta
tions could be demonstrated in the catalytic domain. We conclude that
mutations in the SH2 region of GAP may play a role in tumorigenesis an
d that inactivating mutations of the GAP catalytic domain do not contr
ibute to tumour development.