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Two independent families with de novo whole APC gene deletion and intellectual disability: a case report.
Hered Cancer Clin Pract
January 2025
First Department of Medicine, Hamamatsu University School of Medicine, Hamamatsu, 431-3192, Japan.
Background: Familial adenomatous polyposis (FAP) is an autosomal dominant colorectal tumour syndrome characterised by the formation of multiple adenomatous polyps throughout the colon. It is important to understand the extracolonic phenotype that characterizes FAP. Most previous case reports of patients with both FAP and intellectual disability (ID) have described deletions in all or part of chromosome 5q, including the APC locus.
View Article and Find Full Text PDFGastric polyposis and risk of gastric cancer in patients with familial adenomatous polyposis.
J Gastrointest Surg
November 2024
Division of Hepatobiliary and Pancreas Surgery, Department of Surgery, Mayo Clinic, Rochester, MN, United States. Electronic address:
Article Synopsis
- Gastric polyposis is prevalent in familial adenomatous polyposis (FAP) syndrome, but its link to gastric cancer (GC) risk remains unclear.
- A study at Mayo Clinic analyzed 337 FAP patients over 10.4 years, finding that 87% had gastric polyps, yet only 2% developed GC, mostly associated with high-grade dysplasia (HGD) or larger polyps.
- The research concluded that while the overall risk of GC in FAP is low, specific surveillance and endoscopic interventions are crucial for improving early detection and management.
Gastrointestinal manifestations in patients with gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS): a systematic review with analysis of individual patient data.
Hered Cancer Clin Pract
July 2024
Department of Clinical Genetics, Copenhagen University Hospital, Blegdamsvej 9, Copenhagen, Rigshospitalet, DK-2100, Denmark.
Background And Aim: Gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS) is an autosomal dominant syndrome characterized by fundic gland polyps (FGP) as well as an increased risk of gastric cancer. The syndrome has been recognized as a clinical entity for less than a decade. A clinical suspicion may be complex and can vary from incidental findings of FGPs at gastroscopy to obstructive symptoms with dyspepsia and vomiting.
View Article and Find Full Text PDFBall-Valve Syndrome Secondary to Large Fundic Adenoma.
ACG Case Rep J
April 2024
Department of Gastroenterology, University of British Columbia, Vancouver, British Columbia, Canada.
Gastroduodenal intussusception is a rare presentation in adults. A mass lesion in the stomach typically acts as a lead point that invaginates into the pylorus and duodenum causing intussusception. In a subset of these cases, episodic symptoms of obstruction occur because of intermittent prolapse of the lesion, termed "ball-valve syndrome.
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