Mutational Analysis of a Familial Adenomatous Polyposis Pedigree with Bile Duct Polyp Phenotype

Figure 1

(a) Familial adenomatous polyposis (FAP) family pedigree. Proband (III1) had multiple sites of adenomatous polyposis of the colon and rectum at 28 years of age, (b), (c) gastroscopy and (d), (e) colonoscopy, was diagnosed with “colon cancer” at age 31. Cohort members I2, II3, 5, and 10 all died of “colon cancer and adenomatous colonic polyposis.” Members II8, III4, 5, and 3 had adenomatous colonic polyposis. Members I2 and II8 also suffered from adenomas of the common bile duct. (f), (g) CT images of II8 before total colorectal resection; the images show changes in the distal stomach, pancreas, and duodenum, polyps in the rectum and sigmoid colon wall, and the heterogeneous fatty liver.