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Genetics of Colorectal Cancer (PDQ®): Genetics - Health Professional Information [NCI] - Major Genetic Syndromes

Table 12. Clinical Practice Guidelines for the Diagnosis of Colon Cancer in Familial Juvenile Polyposis Syndrome (JPS)

Organization/ AuthorSMAD4/BMPR1ATesting RecommendedaAge Screening InitiatedFrequencyMethodComment
ACGBI = Association of Coloproctology of Great Britain and Ireland; BE = barium enema; C = colonoscopy; CRC = colorectal cancer; EGD = esophagogastroduodenoscopy; FS = flexible sigmoidoscopy; GI = gastrointestinal; HHT = hereditary hemorrhagic telangiectasia; NCCN = National Comprehensive Cancer Network.
a SMAD4/BMPR1Amutation analysis includes sequencing followed by analysis for deletions (e.g., MLPA), if no mutation found by sequencing.[444]
b Younger, if patient has presented with symptoms.
ACGBI  15–18 yb1–2 yC or FS + BEGene carriers and affected surveillance until age 70 y and discussion of prophylactic surgery
Brosens et al.[442]Yes, genetic testing preferred over colonoscopy15 y or at symptomsYearly until polyp free then every 2–3 yCProphylactic surgery if >50–100 polyps, unable to manage endoscopically, severe GI bleeding, JPS with adenomatous changes, strong family history of CRC
NCCN[84]No specific recommendation~15 y2–3 y or 1 y if polyps are foundCRefer to specialized team
Zbuk and Eng[443] 15 y3 yC, EGDSome families withSMAD4mutation also have HHT; these individuals may need to be screened for HHT

Level of evidence: 5

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Last Updated: February 25, 2014
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