Those with familial adenomatous polyposis, an autosomal dominant condition, have a high predisposition to cancer. Because of its role as a tumor suppressor, no specific mutations lead to cancer. Any mutation which prevents protein cells will then prevent APC from regulating cell growth. 95% of the mutations are frameshift mutations and result in truncated proteins. The mutations often cause premature stop codons. 33% of mutations happen between amino acids 1061-1309. Mutations are also very common on the 5’ half of exon 15. A little over 60% of mutations also happen within a mutation cluster region from amino acid 1286 to 1513. Some other common mutations are a 34-kb deletion of the APC promoter 1B. Mutations in this cluster result in the deletion of Axin binding sites in the 20AA (only one binding site is saved). Mutations also cause the deletion of β-catenin regulation, it leads to chromosome instability, and also causes altered cell migration. Figure 7 represents a few other mutations common to APC. Colorectal cancer is one of the most common malignancies in the US with around 50,000 deaths a year. FAP significantly increase the chance of an otherwise low risk cancer, only 5% for those under 70. A buildup of mutations is what ultimately results in cancer, at least four mutations in the gene sequence need to
Those with familial adenomatous polyposis, an autosomal dominant condition, have a high predisposition to cancer. Because of its role as a tumor suppressor, no specific mutations lead to cancer. Any mutation which prevents protein cells will then prevent APC from regulating cell growth. 95% of the mutations are frameshift mutations and result in truncated proteins. The mutations often cause premature stop codons. 33% of mutations happen between amino acids 1061-1309. Mutations are also very common on the 5’ half of exon 15. A little over 60% of mutations also happen within a mutation cluster region from amino acid 1286 to 1513. Some other common mutations are a 34-kb deletion of the APC promoter 1B. Mutations in this cluster result in the deletion of Axin binding sites in the 20AA (only one binding site is saved). Mutations also cause the deletion of β-catenin regulation, it leads to chromosome instability, and also causes altered cell migration. Figure 7 represents a few other mutations common to APC. Colorectal cancer is one of the most common malignancies in the US with around 50,000 deaths a year. FAP significantly increase the chance of an otherwise low risk cancer, only 5% for those under 70. A buildup of mutations is what ultimately results in cancer, at least four mutations in the gene sequence need to