BACKGROUND AND STUDY AIMS Familial adenomatous polyposis (FAP) is generally managed by colectomy, but in some cases surgery is delayed and polyp burdens are managed endoscopically. We aimed to describe the use of cold snare polypectomy to control the polyp burden in selected patients with FAP. PATIENTS AND METHODS This was a retrospective cohort study. Polyps were counted and the range of pol...

BACKGROUND & AIMS Specific mutations in the adenomatous polyposis coli (APC) gene can lead to an attenuated form of familial adenomatous polyposis (AFAP). Although AFAP mutation carriers have a 69% risk of colorectal cancer by age 80, clinical recognition remains a challenge in some cases because they present with few colonic adenomas and are difficult to distinguish clinically from patients wi...

Background Familial adenomatous polyposis (FAP) is a rare hereditary colorectal cancer syndrome estimated to account for about 1% of colorectal cancers. While there is variation in the FAP phenotype amongst individuals and families with mutations, it is characterized by a striking phenotype of colonic polyposis and other distinctive features such as desmoids and gastric fundic gland polyps. It ...

Accepted for publication 2 February 1993 Abstract One case of non-penetrance of the familial adenomatous polyposis (FAP) gene at 59 years of age and late onset of polyps on endoscopy and biopsy in this and two other families is described. Screening protocols should include dental screening as well as indirect ophthalmoscopy and endoscopy to detect minimal manifestations of the gene. In the abse...

Nine new causative mutations and seven previously characterised mutations of the APC gene of patients with familial adenomatous polyposis (FAP) were analysed for any genotype-phenotype correlations. The only clear genotype-phenotype correlation found was between the position of the mutation site and the presence or absence of congenital hypertrophy of the retinal pigment epithelium (CHRPE). A m...

Tomlinson et al. recently described a new familial cancer syndrome CRAC-1 (colorectal adenoma and carcinoma), with a phenotype characterised by bowel carcinoma with associated large colorectal polyps with a serrated adenoma histology [1]. Other cancers including pancreatic and renal and breast were described in the original SM1311 pedigree, although the authors were not sure if these were part ...

The case of a 15-year-old male with Turcot syndrome is presented. When the patient was aged 10 years a medulloblastoma was diagnosed. Five years later he developed multiple adenomatous polyps of the colon and multiple "congenital hypertrophy of the retina" (CHRPE), the most common extraintestinal manifestation of FAP, were described. Family history revealed familial adenomatous polyposis with 1...

Turcot Syndrome This section has been reviewed and approved by the Cancer.Net Editorial Board [1], December / 2011 Overview What is Turcot syndrome? Turcot syndrome is a condition in which cells become abnormal and form masses called polyps. A polyp is benign (noncancerous) but can eventually turn malignant (cancerous, meaning it can spread to other parts of the body). Turcot syndrome is rare a...

background and objectives: gastrointestinal polyps are proliferative or neoplastic mucosal lesions. the most important point about these polyps is risk of malignancy of them. this study was performed to determine type and frequency of polyps of gastrointestinal tract in iranian population according to their locations. materials and methods: totally, 210 patients referred to rasul-e-akram hospi...