1. Variables affecting penetrance of gastric and duodenal phenotype in familial adenomatous polyposis patients
- Author
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Sample, Danielle C, Samadder, N Jewel, Pappas, Lisa M, Boucher, Kenneth M, Samowitz, Wade S, Berry, Therese, Westover, Michelle, Nathan, Deepika, Kanth, Priyanka, Byrne, Kathryn R, Burt, Randall W, and Neklason, Deborah W
- Subjects
Biomedical and Clinical Sciences ,Clinical Sciences ,Digestive Diseases ,Genetics ,Rare Diseases ,Prevention ,Cancer ,Clinical Research ,Colo-Rectal Cancer ,Adenomatous Polyposis Coli ,Adolescent ,Adult ,Age Factors ,Aged ,Colectomy ,Duodenal Neoplasms ,Endoscopy ,Gastrointestinal ,Female ,Genes ,APC ,Humans ,Intestinal Polyps ,Male ,Middle Aged ,Mutation ,Penetrance ,Phenotype ,Prospective Studies ,Sex Factors ,Stomach Neoplasms ,Young Adult ,Duodenum ,Gastric ,Polyposis ,Familial adenomatous polyposis ,Fundic gland polyps ,Public Health and Health Services ,Gastroenterology & Hepatology ,Clinical sciences - Abstract
BackgroundPatients with familial adenomatous polyposis (FAP) frequently undergo colectomy to reduce the 70 to 90% lifetime risk of colorectal cancer. After risk-reducing colectomy, duodenal cancer and complications from duodenal surgeries are the main cause of morbidity. Our objective was to prospectively describe the duodenal and gastric polyp phenotype in a cohort of 150 FAP patients undergoing pre-screening for a chemoprevention trial and analyze variables that may affect recommendations for surveillance.MethodsIndividuals with a diagnosis of FAP underwent prospective esophagogastroduodenoscopy using a uniform system of mapping of size and number of duodenal polyps for a 10 cm segment. Gastric polyps were recorded as the total number.ResultsThe distribution of the count and sum diameter of duodenal polyps were statistically different in two genotype groups, those with APC mutations associated with classic FAP had a greater count (median 17) and sum diameter of polyps (median 32 mm) than those with APC mutations associated with attenuated FAP (median count 4 and median sum diameter of 7 mm) (p
- Published
- 2018