Clinical manifestation | Management implications |
Colorectal polyposis | - Surveillance colonoscopy starting at age 25 to 30 years (earlier if first-degree relatives have developed polyposis at an earlier age)
- Polypectomy when feasible
- Consider colectomy if polyposis is extensive (>100 polyps or some individuals with 10 to 100 polyps), cannot be managed by polypectomy, symptoms such as severe bleeding, or patient preference
|
Colorectal cancer | - Extensive colectomy and post-colectomy surveillance
- Inclusion of immune checkpoint inhibitor therapy in chemotherapy regimen
|
Duodenal polyposis | - Surveillance upper endoscopy and duodenoscopy starting at age 25 to 30 years; repeat every 3 years or more frequently if adenomas are found
|
Other cancers | - Surveillance based on cancers seen within the kindred
|
Autosomal dominant inheritance (first-degree relatives have a 50% chance of inheriting the pathogenic variant) | - Counseling and testing of close relatives* with cascade testing
- Reproductive counseling and testing
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