FIGURE 2 | Human APC and CTNNB1 mutations are associated with carcinogenesis.

a | Histogram indicating the frequency of somatic and germline mutations within human APC (adenomatous polyposis coli). Germline mutations are distributed all over the APC gene, with two preferential mutation sites at codon 1061 (a) and codon 1309 (b), which produce truncated APC proteins (APC1 and APC2) that have been associated with familial adenomatous polyposis (FAP). Somatic mutations in the mutation cluster region (MCR) produce truncated APC proteins that have been observed in sporadic colorectal cancers. People carrying one mutation in APC typically acquire a second mutation during adolescence and are predisposed to benign colorectal cancers. First-hit mutations at codon 1061 (a) accompanied by somatic mutations in the MCR (hot spots 1–5) produce truncated APC proteins (APC1) harbouring one or two 20-amino-acid repeats. Germline mutations at b or c that are followed by mutations in the MCR result in loss of the wild-type allele and produce a truncated APC protein (APC2). The Min mutation (nonsense mutation at codon 850) results in a stable truncated APC protein that predisposes to multiple intestinal neoplasia in mice. b | Somatic mutations and deletions () in the 5' sequence (exon 3) of human CTNNB1 (the gene that encodes -catenin) that have been associated with human cancers. DLG, disc large; EB1/RP1, a family of microtubule-associated proteins; PTP-BL, protein tyrosine phosphatase BL. The data in the histogram in part a is adapted from Ref. 121. The other data in part a is taken from Refs 155, 219, 220.

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