We describe a patient who was diagnosed with multiple tubulleuvillous adenomas focus of high-grade tubular dysplasia all over the colonic mucosa, discovered during colonoscopy performed an episode melena. Genetic testing has identified germline truncating mutation at codon (5q22.2) adenomatous polyposis (APC) gene. This is localized in alternately spliced region exon 12, which associated attenu...

The adenomatous polyposis coli gene (APC) is mutated in familial adenomatous polyposis and in sporadic colorectal tumors. Here the APC gene product is shown to bind through its armadillo repeat domain to a Rac-specific guanine nucleotide exchange factor (GEF), termed Asef. Endogenous APC colocalized with Asef in mouse colon epithelial cells and neuronal cells. Furthermore, APC enhanced the GEF ...

Familial adenomatous polyposis (FAP) is a rare syndrome characterized by the presence of hundreds to thousands of colorectal adenomas and is responsible for less than 1% of all colorectal cancers. The syndrome is also characterized by extra-colorectal features including amongst others upper gastrointestinal tract polyps and desmoid tumors. The syndrome is inherited by an autosomal dominant gene...

An association between Birt-Hogg-Dubé syndrome (BHDS) and colon cancer remains conjectural, but herein we describe a case who may illustrate a significant link between them. The 60-year-old woman was diagnosed at 28 years of age with colon carcinoma and familial adenomatous polyposis (FAP). She also had repeated pneumothoraces, and was diagnosed with BHDS following the finding of pneumothorax i...

A 20-year-old woman presented for a routine eye examination. Her best-corrected visual acuity was 20/20 in the right eye and 20/25 in the left eye. Fundus examination revealed in both eyes the presence of multiple egg-shaped hyperpigmented retinal lesions (at least 4), sur-rounded by a depigmented halo(figure 1, black arrows). The appearance of these lesions was suggestive of congenital hypertr...

INTRODUCTION Familial Adenomatous Polyposis (FAP) is a hereditary condition characterized by multiple colorectal adenomatous polyps. FAP is the most common adenomatous polyposis syndrome. Restorative proctocolectomy is the most commonly performed surgical procedure performed for patients suffering from FAP with different options for anastomosis, namely ileorectal anastomosis (IRA) or ileal pouc...

PURPOSE There is a paucity of data quantifying the familial risk of colorectal cancer associated with mismatch repair (MMR)-deficient and MMR-stable tumors. To address this, we analyzed a population-based series of 1,042 colorectal cancer probands with verified family histories. EXPERIMENTAL DESIGN Constitutional DNA from probands was systematically screened for MYH variants and those with ca...

This study evaluates the results of endorectal Ileal J Pouch Anal Anastomosis (IJPAA) in 13 patients with Ulcerative colitis and 7 patients with familial adenomatous polyposis in 6 years in Emam Hosein Hospital. In the last, for this patients permanent Ileostomy was performed, but with (IJPAA) operation permanent Ileostomy is abandoned. Two patients, total colectomy rectal mocosectomy and ilea...

A number of hereditary conditions have been identified that predispose to colorectal cancer. Most inherited forms of colorectal cancer can be placed into two groups, those that are associated with a pre-malignant phenotype (the “polyposis” syndromes) and those do not have a pre-malignant phenotype (generally termed “non-polyposis”). The polyposis syndromes can be further subdivided into two gro...

BACKGROUND In familial adenomatous polyposis the only curative treatment is colectomy, and the choice of operation lies between restorative proctocolectomy (RPC) and colectomy with ileorectal anastomosis (IRA). The RPC procedure carries a higher morbidity but, unlike IRA, removes the risk of subsequent rectal cancer. Since the course of familial adenomatous polyposis is influenced by the site o...