Between 2% to 5% of all colon cancers arise in the setting of well-defined inherited syndromes, including Lynch syndrome, familial adenomatous polyposis, MUTYH-associated polyposis, and certain hamartomatous polyposis conditions. Each is associated with a high risk of colon cancer. In addition to the syndromes, up to one-third of colon cancers exhibit increased familial risk, likely related to ...

Familial adenomatous polyposis (FAP) is an inherited disorder that represents the most common gastrointestinal polyposis syndrome. Germline mutations in the APC gene were initially identified as responsible for FAP, and later, several studies have also implicated the MUTYH gene as responsible for this disease, usually referred to as MUTYH-associated polyposis (MAP). FAP and MAP are characterize...

INTRODUCTION Desmoid tumours are locally aggressive tumours which are common in Familial Adenomatous Polyposis (FAP). PRESENTATION OF CASE A 20-year old Familial Adenomatous Polyposis (FAP) patient presented with abdominal pain and distention. Abdominal imaging showed small bowel obstruction and hydronephrosis due to a pelvic mass. This mass showed significant enlargement on repeat imaging, a...

INTRODUCTION Desmoid tumors (also called aggressive fibromatosis) are histologically benign, but have a strong tendency to recur locally after resection. They are rare neoplastic tumors that may occur sporadically or in association with familial adenomatous polyposis caused by a germline mutation in the adenomatous polyposis coli gene. The etiology of desmoid tumors is unknown, but their associ...

The term desmoid was first used by Muller [1] to describe the tendon-like aspect and the hard consistence of this type of proliferation (desmos in Greek means band). Desmoid tumours (DTs) are classified as extraor intraabdominal. The extra-abdominal DTs arise from fascial or muscoloaponeurotic structures predominantly of the abdominal wall (Fig 1a, 1b, 1c) and occasionally of the shoulder girdl...

When a serious genetic disorder is diagnosed in the family, an immediate question arises: are other family members at risk? Ethical issues arise when DNA technology allows testing of children for a condition which is unlikely to have significant morbidity until later life. Familial adenomatous polyposis (FAP) exemplifies this dilemma. A rational approach to screening requires both an understand...

Familial adenomatous polyposis (FAP) is a hereditary condition transmitted in an autosomal dominant fashion, which is characterized by the appearance of numerous adenomatous polyps in the colon. This condition results from mutation of the APC gene and accounts for 1% of cases of colorectal cancer. FAP is frequently associated with extracolonic manifestations: desmoid tumors, osteomas, pigmented...

Papillary thyroid carcinoma (PTC) associated with familial adenomatous polyposis (FAP) is rare. It is usually associated with the cribriform-morular variant of PTC, with unusual patterns on detailed histology examination. This variant is known to have a good prognosis. Papillary thyroid carcinoma associated with FAP commonly occurs in females in their 30s and rarely in the elderly. We report a ...

Familial adenomatous polyposis (FAP) is a well-defined autosomal dominant predisposition to the development of polyposis in the colon and rectum at unusually early ages. The first symptoms of FAP are diarrhea and blood in the stool. Weight loss and weaknesses occur after the development of advanced tumour. The incidence of the FAP disorder is one per 10000 newborns. There are high levels of het...