Familial adenomatous polyposis (FAP), Gardner syndrome (polyposis, osteomas and epitheliomas), flat adenoma syndrome (attenuated APC) and Turcot syndrome (colorectal polyposis with brain tumours) are distinctive clinical syndromes. Each is caused by mutations in the adenomatous polyposis coli (APC) gene on chromosome 5q21, although Turcot syndrome may have other causes. A variety of APC mutations are recognized, which can be associated with the character and severity of the clinical syndromes.

Download full-text PDF

Source

Publication Analysis

Top Keywords

adenomatous polyposis
12
turcot syndrome
12
familial adenomatous
8
gardner syndrome
8
syndrome attenuated
8
attenuated apc
8
apc turcot
8
clinical syndromes
8
syndrome
6
polyposis
5

Similar Publications

Introduction: Pancreatoduodenectomy (PD) may occasionally be indicated for complete removal of periampullary (duodenal and ampullary) adenomas (PAs). As compared with malignant indications, PD for benign or pre-malignant disease is often associated with increased morbidity. While the Spigelman classification assesses malignancy risk for familial adenomatous polyposis (FAP)-related duodenal adenomas, no malignancy risk score (MRS) exists for non-FAP related PAs.

View Article and Find Full Text PDF

Colorectal cancer (CRC) initiates in colon or rectum is named as colon or rectal cancer, based on the site of inception. Various genetic alterations responsible for CRC include several signaling pathways. The Wingless/Wnt signaling pathway is the vital pathway which involved in the cancer pathogenesis.

View Article and Find Full Text PDF

Gastric polyps are not created equal: Know your enemy.

World J Gastroenterol

January 2025

Department of Gastroenterology and Hepatology, American University of Beirut Medical Center, Beirut 1107 2020, Lebanon.

Gastric polyps are commonly detected during upper gastrointestinal endoscopy. They are most often benign and rarely become malignant. Nevertheless, adequate knowledge, diagnostic modalities, and management strategies should be the endoscopist's readily available "weapons" to defeat the potentially malignant "enemies".

View Article and Find Full Text PDF

Adenomatous Polyposis Coli (APC) is a tumor suppressor gene expressed throughout the body. APC mutations increase the risk of malignancy and are often characterized by syndromes that encompass a spectrum of neoplastic manifestations, such as familial adenomatous polyposis (FAP). We present a rare case of palatal peripheral nerve sheath tumor in the context of APC gene mutation.

View Article and Find Full Text PDF

Background: Restorative proctocolectomy with ileal pouch-anal anastomosis (IPAA) is a common surgical procedure for ulcerative colitis and familial adenomatous polyposis. IPAA strictures are a known complication, often requiring surgical intervention. Endoscopic interventions offer a less invasive alternative, but their safety and efficacy remain uncertain.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!