familial adenomatous polyposis (fap) is a hereditary autosomal dominant cancer syndrome, results from germ line mutation or deletion of the adenomatous polyposis coli (apc) gene on chromosome 5q21. patients with fap suffer from multiple polyps mainly at the colorectal region as well as other parts of the gastrointestinal tract, which has propensity to transform into carcinoma. fap has also been...

Familial adenomatous polyposis (FAP), caused by a germline mutation in the adenomatous polyposis coli (APC) gene on chromosome 5q21, is an autosomal dominant disorder characterized by hundreds to thousands of adenomas throughout the gastrointestinal tract. A variety of extraintestinal manifestations, including thyroid, soft tissue, and brain tumors, may also be present. These patients inevitabl...

     Familial adenomatous polyposis (FAP) is a hereditary autosomal dominant cancer syndrome, results from germ line mutation or deletion of the Adenomatous Polyposis Coli (APC) gene on chromosome 5q21. Patients with FAP suffer from multiple polyps mainly at the colorectal region as well as other parts of the gastrointestinal tract, which has propensity to transform into carcinoma. FAP has also...

Relatively frequent losses of heterozygosity on chromosomes 5q, 6q, and 10q, in addition to loss of heterozygosity on the short arm of chromosome 3, have been observed in renal cell carcinomas. As the first step toward isolation of tumor suppressor genes on these three chromosomal arms, we used six restriction fragment length polymorphism markers for 5q, nine for 6q, and eight for 10q to identi...

Familial typical migraine is a common, complex disorder that shows strong familial aggregation. Using latent-class analysis (LCA), we identified subgroups of people with migraine/severe headache in a community sample of 12,245 Australian twins (60% female), drawn from two cohorts of individuals aged 23-90 years who completed an interview based on International Headache Society criteria. We repo...

A six month old girl with developmental delay and dysmorphic features was found to have a translocation involving 2p and 5q as well as a deletion of band 5q21.

The biologic mechanisms involved in the clinical progression from early stages of patients with chronic lymphocytic leukemia (CLL) are not well known. We investigated sequential samples from 16 untreated CLL patients obtained at diagnosis in early stage and after progression before treatment. One patient had a p16 (INK4a) homozygous deletion at diagnosis and progression, and 3 patients acquired...

The APC gene at human chromosome 5q21 is responsible for familial adenomatous polyposis coli. Furthermore, sporadic cancers of not only colon but also other digestive organs often contain mutations in the APC gene. A dominant mouse mutation Min that was generated by chemical mutagenesis and causes polyposis in the digestive tract is in the mouse homologue of the human APC gene. The APC mRNA is ...