APC is a tumor suppressor gene whose protein acts as a key brake on the Wnt signaling pathway by helping mark the growth-promoting protein beta-catenin for destruction; it also participates in cell migration, adhesion, and apoptosis. Inherited mutations in APC cause familial adenomatous polyposis (FAP), an autosomal dominant condition characterized by numerous colorectal polyps and a very high risk of colorectal cancer, with related forms including attenuated FAP and gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS). Somatic APC mutations are found in roughly 50-80% of sporadic colorectal cancers, where they act as early tumor-initiating events, and are also observed in some breast, stomach, and prostate cancers. Loss of APC function leaves Wnt signaling abnormally active, driving uncontrolled cell growth, which makes APC a central tumor suppressor in colorectal cancer.
This APC variant affects a tumor-suppressor gene whose loss of Wnt pathway control causes familial adenomatous polyposis and contributes to colorectal tumor initiation.
BP1 supporting: p.(Gln2291His) is an APC missense change at codon 2291, outside the excluded codons 1021-1035.
European (non-Finnish) 355 / 1,179,916 |
0.03% |
Remaining individuals 12 / 62,498 |
0.019% |
Admixed American 3 / 60,002 |
0.005% |
European (Finnish) 2 / 64,030 |
0.0031% |
East Asian 1 / 44,858 |
0.0022% |
African/African American 1 / 75,016 |
0.0013% |
European (non-Finnish) 38 / 128,826 |
0.029% |
Remaining individuals 1 / 7,210 |
0.014% |
European (Finnish) 1 / 25,088 |
0.004% |
Admixed American 1 / 35,388 |
0.0028% |
