c.1439delA frameshift deletion mutation in familial adenomatous polyposis
نویسندگان
چکیده
منابع مشابه
A Patient with Interstitial 5q21 Deletion, Familial Adenomatous Polyposis, Dysmorphic Features, and Profound Neurologic Dysfunction
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...
متن کاملFamilial Adenomatous Polyposis.
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...
متن کاملFamilial adenomatous polyposis coli.
The other mode of treating these patients are subtotal colectomy with ileorectal anastomosis alongwith regular follow up with proctoscopy for development of cancer in retained rectal mucosa(3,7). Recently, Stevan et al. (8) utilized laproscope for total proctocolectomy as well as ileoanal anostomosis while others performed ileopouch anal anastomosis alongwith total proctocolectomy(9,10). Thus t...
متن کاملFamilial adenomatous polyposis
Familial adenomatous polyposis (FAP) is characterized by the development of many tens to thousands of adenomas in the rectum and colon during the second decade of life. FAP has an incidence at birth of about 1/8,300, it manifests equally in both sexes, and accounts for less than 1% of colorectal cancer (CRC) cases. In the European Union, prevalence has been estimated at 1/11,300-37,600. Most pa...
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: OncoTargets and Therapy
سال: 2018
ISSN: 1178-6930
DOI: 10.2147/ott.s183153