APC truncation mutants have impaired AXIN binding

Stable Identifier
Homo sapiens
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Mutations in the APC tumor suppressor gene are common in colorectal and other cancers and cluster in the central mutation cluster region (MCR) of the gene (Miyoshi et al, 1992; Nagase and Nakamura, 1993; Dihlmann et al, 1999; reviewed in Bienz and Clevers, 2000). These mutations generally result in truncated proteins that destabilize the destruction complex and result in elevated WNT pathway activation (reviewed in Polakis, 2000).

Literature References
PubMed ID Title Journal Year
8111410 Mutations of the APC (adenomatous polyposis coli) gene

Nagase, H, Nakamura, Y

Hum. Mutat. 1993
10921899 Wnt signaling and cancer

Polakis, P

Genes Dev. 2000
10213492 Dominant negative effect of the APC1309 mutation: a possible explanation for genotype-phenotype correlations in familial adenomatous polyposis

Gebert, J, Herfarth, C, Siermann, A, von Knebel Doeberitz, M, Dihlmann, S

Cancer Res. 1999
11057903 Linking colorectal cancer to Wnt signaling

Clevers, HC, Bienz, M

Cell 2000
1338904 Somatic mutations of the APC gene in colorectal tumors: mutation cluster region in the APC gene

Mori, T, Ando, H, Nagase, H, Ichii, S, Horii, A, Nakamura, Y, Nakatsuru, S, Miyoshi, Y, Miki, Y, Aoki, T

Hum. Mol. Genet. 1992
Name Identifier Synonyms
cancer DOID:162 malignant tumor, malignant neoplasm, primary cancer
Cross References
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