Mutations adenomatous polyposis coli

Adenomatous polyposis coli (APC) gene A tumor suppressor gene, acting as a gatekeeper to prevent development of tumors. A familial cancer syndrome called FAP, or familial adenomatous polyposis, is caused by mutations in APC. Mutation of APC also occurs commonly in sporadic cases of colorectal carcinoma. 

Individuals at risk for developing a genetic disease with a delayed age of onset may wish to learn whether they have inherited a disease-causing mutation (e.g., Huntington disease, femilial breast cancer, hemochromatosis, adenomatous polyposis coli). In some cases, presymptomatic diagnosis can be highly usefiil in preventing serious disease consequences before they occur (e.g., phlebotomy for hemochromatosis, early tumor detection for familial breast cancer). 

Miyaki M, Konishi M, Kikuchi-Yanoshita R, et al. Characteristics of somatic mutation of the adenomatous polyposis coli gene in colorectal tumors. Cancer Res 1994 54 3011-3020. 

Normally, cell proliferation and cell death are in a steady state, where the rate of proliferation is matched by the rate of apoptosis. Colon cancer, like other cancers, is caused by mutations in key components of regulatory pathways in this case mutations of the tumour-suppressor gene APC, the adenomatous polyposis coli gene. When APC is inactivated and turned off, the Wnt pathway, normally operative only in the embryo, is turned on. The Wnt pathway also plays a role in other cancers, for example in mammary tumours in mice and humans (for further information and literature references, see ref. 14). 

The most common genetic alteration identified to date is LOH of the highly imprinted region of chromosome lip near the WT2 gene locus.Additionally, alterations in the adenomatous polyposis coli (APC)/ -catenin pathway have been reported in 50% to 80% of pancreatoblastomas.Most often, these involve the p-catenin gene (CTNNBlj. ssooo u Uke DAs, TP53 and KRAS mutations have not been detected.334.299,30i,302... 

Nagase, H. and Nakamura, Y. (1993) Mutations of the APC (adenomatous polyposis coli) gene. Hum. Mutat.,... 

Miyaki, M., Konishi, M., Kikuchi-Yanoshita, R., Enomoto, M., Igari, T., Tanaka, K., Muraoka, M., Takahashi, H., Amada, Y., Fukayama, M., Maeda, Y., Iwama, T., Mishima, Y., Mori, T, and Koike, M. (1994) Characteristics of somatic mutation of the adenomatous polyposis coli gene in colorectal tumors. Cancer Res., 54 (11), 3011-3020. 

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