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BACKGROUND Familial adenomatous polyposis (FAP) is a well-described inherited syndrome, which is responsible for <1% of all colorectal cancer (CRC) cases. The syndrome is characterised by the development of hundreds to thousands of adenomas in the colorectum. Almost all patients will develop CRC if they are not identified and treated at an early stage. The(More)
Peutz-Jeghers syndrome (PJS, MIM175200) is an autosomal dominant condition defined by the development of characteristic polyps throughout the gastrointestinal tract and mucocutaneous pigmentation. The majority of patients that meet the clinical diagnostic criteria have a causative mutation in the STK11 gene, which is located at 19p13.3. The cancer risks in(More)
APC is often cited as a prime example of a tumor suppressor gene. Truncating germline and somatic mutations (or, infrequently, allelic loss) occur in tumors in FAP (familial adenomatous polyposis). Most sporadic colorectal cancers also have two APC mutations. Clues from attenuated polyposis, missense germline variants with mild disease and the somatic(More)
BACKGROUND Inflammatory bowel disease (IBD) has a typical onset during the peak reproductive years. Evidence of the risk of adverse pregnancy outcomes in IBD is important for the management of pregnancy to assist in its management. AIM To provide a clear assessment of risk of adverse outcomes during pregnancy in women with IBD. DESIGN The Medline(More)
Clinical desmoid disease affect approximately 10 per cent of patients with familial adenomatous polyposis (FAP); the subclinical rate is unknown. Desmoids are probably neoplastic rather than regenerative in origin and may arise in association with germline or somatic mutations at or beyond codon 1444 of the APC gene. Intra-abdominal desmoids behave(More)
BACKGROUND Desmoid tumours are one of the most important and intriguing extracolonic manifestations of familial adenomatous polyposis (FAP). They have been studied only in small numbers of patients. METHODS Patients with FAP who also had desmoid tumour were identified from a polyposis registry database and their hospital notes were reviewed. RESULTS(More)
The prevalence of antibody to hepatitis C virus (HCV) was estimated in 3 tropical populations using 2 screening ELISAs to detect antibody to the c100-3 antigen and 2 supplementary assays designed to test the specificity of these tests. Two hundred and eighty-six of 385 (74.2%) sera from Kiribati, 17 of 138 (12.3%) sera from Vanuatu, and 39 of 173 (22.5%)(More)
BACKGROUND It is reported that previous colectomy and ileorectal anastomosis (IRA) has no effect on postoperative complications and functional outcomes of secondary proctectomy and ileal pouch-anal anastomosis (IPAA) in patients with familial adenomatous polyposis (FAP). This retrospective study re-examined the question in a single centre. METHODS Some(More)
Faecal microbiota transplantation (FMT) is effective in the treatment of Clostridium difficile infection, where efficacy correlates with changes in microbiota diversity and composition. The effects of FMT on recipient microbiota in inflammatory bowel diseases (IBD) remain unclear. We assessed the effects of FMT on microbiota composition and function,(More)
BACKGROUND Colectomy and ileorectal anastomosis (IRA) or restorative proctocolectomy are performed for prophylaxis in familial adenomatous polyposis (FAP). After IRA patients may require secondary proctectomy for worsening polyposis or rectal cancer. Outcomes after IRA were evaluated and risk factors predictive of progressive rectal disease identified. (More)