The clinical correlates of a 3' truncating mutation (codons 1982-1983) in the adenomatous polyposis coli gene

Staging Intra-Abdominal Desmoid Tumors in Familial Adenomatous Polyposis: A Search for a Uniform Approach to a Troubling Disease

“…The families with APC mutations at the extreme 3Ј end of the gene have a high rate of expression of desmoids, approaching 100 percent. [7][8][9] In these families, desmoids tend to occur before abdominal surgery, often in childhood.…”

“…6 Families have been described with mutations in codons 3Ј of 1900 where disease expression consists of desmoid tumors and no or minimal polyposis. [7][8][9] Intra-abdominal desmoid tumors are a challenge in patients with FAP for several reasons:…”

Progressive Duodenal Adenomatosis in a Familial Adenomatous Polyposis Pedigree with APC Mutation at Codon 1556

“…1,2 The intrafamilial variability in the occurrence of CHRPE and desmoids in the family suggests that genotype-phenotype correlation of FAP remains obscure for 3' mutations of the APC gene, as has been demonstrated previously. 19,20 It has been reported that severity of colorectal ad- [6][7][8] More recently, colonic polyposis of less than 100 adenomas, which is referred to as attenuated familial adenomatous polyposis, has been identified. The responsible APC gene mutations have been shown to cluster at the proximal region (exons 4 and 5) or at the extremely distal 3' end of exon 15.…”

Familial Gastric Cancers

“…For example, mutations toward the 59 and the 39 ends (codons 1,982-1,983) have been associated with profuse gastric fundic gland polyposis [18]. Somatic mutations involving codon 1,554-1,556 also have been reported in 51% of FAP-associated familial gastric polyposis (FGP) and 50% of gastric adenomas (GAs).…”