Variables affecting penetrance of gastric and duodenal phenotype in familial adenomatous polyposis patients

Autor: Therese Berry, Wade S. Samowitz, Michelle Westover, Kathryn R. Byrne, Deepika Nathan, Kenneth M. Boucher, N. Jewel Samadder, Randall W. Burt, Danielle Sample, Lisa Pappas, Priyanka Kanth, Deborah W. Neklason
Rok vydání: 2018
Předmět:
Male
0301 basic medicine
Colorectal cancer
medicine.medical_treatment
Penetrance
Gastroenterology
Endoscopy
Gastrointestinal

0302 clinical medicine
Duodenal Neoplasms
Gastric
Prospective Studies
Polyposis
Prospective cohort study
Colectomy
Familial adenomatous polyposis
biology
Age Factors
Intestinal Polyps
General Medicine
Middle Aged
Fundic gland polyps
3. Good health
Phenotype
Adenomatous Polyposis Coli
Female
030211 gastroenterology & hepatology
Duodenal cancer
Research Article
Adult
medicine.medical_specialty
Genes
APC

Adolescent
Duodenum
Adenomatous polyposis coli
Young Adult
03 medical and health sciences
Sex Factors
Stomach Neoplasms
Internal medicine
medicine
Humans
lcsh:RC799-869
neoplasms
Duodenal Neoplasm
Aged
business.industry
medicine.disease
digestive system diseases
030104 developmental biology
Gastric Polyp
Mutation
biology.protein
lcsh:Diseases of the digestive system. Gastroenterology
business
Zdroj: BMC Gastroenterology, Vol 18, Iss 1, Pp 1-8 (2018)
BMC Gastroenterology
ISSN: 1471-230X
Popis: Background Patients 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. Methods Individuals 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. Results The 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
Databáze: OpenAIRE