Microsatellite instability within coding sequences correlates with altered protein function and the cancer phenotype

GeneSequence alteredMutationResulting phenotypeReference
TGF-β RII(A)10 (GT)3AA +GTTruncated receptor results in loss of growth inhibition of epithelial tissues in response to TGF-βMarkowitz et al. (1995) Togo et al. (1996) Parsons et al. (1995)
APC(G)8+G, −GLoss of function of tumor suppressor gene implicated in the initiation of colorectal cancerHuang et al. (1996)
BAXpoly(A) poly(T) (AG)4−A, + A, −AA −T, −TT −AGInactivation of Bax results in loss of the normal apoptotic pathway in response to DNA damage, despite wild-type p53Rampino et al. (1997)