Clinical utility gene card for: Familial adenomatous polyposis (FAP) and attenuated FAP (AFAP)
نویسندگان
چکیده
منابع مشابه
Guidelines for the clinical management of familial adenomatous polyposis (FAP).
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 syndrome is inherited as an autosomal ...
متن کاملFamilial Adenomatous Polyposis (FAP) and Other Polyposis Syndromes
There have been significant advances in our knowledge about the molecular changes that precede and accompany the development of inherited predispositions to colorectal cancer. In this review the clinical relationship to the molecular changes associated with the polyposis syndromes is presented. The aim is to put into context the diverse findings that have been shown to be associated with the de...
متن کاملAssociation of Pathogenic Missense and Nonsense Mutations in Mitochondrial COII Gene with Familial Adenomatous Polyposis (FAP)
Nuclear genetic mutations have been extensively investigated in solid tumors. However, the role of the mitochondrial genome remains uncertain. Since the metabolism of solid tumors is associated with aerobic glycolysis and high lactate production, tumors may have mitochondrial dysfunctions. Familial adenomatous polyposis (FAP) is a rare form of colorectal cancer and an autosomal dominant inheri...
متن کاملFamilial Adenomatous Polyposis (FAP) in 9 Hispanic women
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 ...
متن کاملAttenuated Familial Adenomatous Polyposis
Attenuated familial adenomatous polyposis (AFAP) is a subtype of a condition known as familial adenomatous polyposis [2] (called FAP or classic FAP). People with FAP or AFAP will have an increased number of adenomatous colon polyps during their lifetime and an increased risk of developing colorectal cancer [3]. An adenomatous polyp is a lump filled with the cells that make mucous and line the i...
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ژورنال
عنوان ژورنال: European Journal of Human Genetics
سال: 2011
ISSN: 1018-4813,1476-5438
DOI: 10.1038/ejhg.2011.7