PMC6382451_01
Pedigree structure of the Chinese family with familial adenomatous polyposis (FAP). Family members with FAP are indicated with Shading. Squares and circles denoted males and females, respectively. Roman numerals indicate generations. Arrow indicates the proband (III-1)
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The colonoscopy of the proband (III-1) showed that approximately 1,000 polyps and local bulge type tumor in the colon, the maximum diameter was about 3 cm (Figure 2a). The center of the tumor showed ulcer and considered FAP and carcinogenesis (Figure 2a). The colonoscopy of the unaffected individual (II-5) showed no abnormality (Figure 2b). The maximum diameter was about 3 cm, hard (Figure 2c).
Clinical description. Colonoscopy of the proband (III-1): (a) The colonoscopy showed about a thousand polyps and local bulge type tumor in the colon; the maximum diameter was about 3 cm. The center of the tumor showed ulcer, considered familial adenomatous polyposis and carcinogenesis. (b) Normal Colon from unaffected individual (II-5). (c) After total colorectal resection, the colon showed about a thousand polyps. The maximum diameter was about 3 cm hard
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Clinical description. Pathology of the proband (III-1): (a) The pathology showed moderately differentiated adenocarcinoma. (b) Chronic mucosal inflammation
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Sanger sequencing confirmed that this mutation is cosegregated well with the FAP phenotype among all the affected family members but not found in unaffected family members as well as in the normal control (Figure 4).