نتایج جستجو برای: familial polyposis coli
تعداد نتایج: 208445 فیلتر نتایج به سال:
The p53 gene has been elucidated as a tumor suppressor gene, and inactivation of this gene caused by deletion or point mutations may play a crucial role in the development of human malignancies. In colorectal carcinomas with an allelic deletion of the p53 gene, the remaining p53 gene was mutated with considerable frequency. It is most difficult to detect point mutations or small deletions of th...
BACKGROUND & AIMS An attenuated form of familial adenomatous polyposis has been described, but the phenotype remains poorly understood. METHODS We performed genetic testing on 810 individuals from 2 attenuated familial adenomatous polyposis kindreds harboring an identical germline adenomatous polyposis coli gene mutation. Colonoscopy was performed on mutation-positive persons. RESULTS The d...
Clear-cut inherited Mendelian traits, such as familial adenomatous polyposis or hereditary nonpolyposis colorectal cancer, account for <4% of colorectal cancers. Another 20% of all colorectal cancers are thought to occur in individuals with a significant inherited multifactorial susceptibility to colorectal cancer that is not obviously familial. Incompletely penetrant, comparatively rare missen...
Abstract Introduction Most cases of colorectal cancer (CRC) occur sporadically; however, ∼ 3% to 6% all CRCs are related inherited syndromes, such as Lynch syndrome and familial adenomatous polyposis (FAP). The coli (APC) mutY DNA glycosylase (MUTYH) germline mutations the main genetic causes polyposis. Nevertheless, in many these genes have not been identified. aim present case report is descr...
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...
Endoscopy with multiple biopsies of the upper gastrointestinal tract was repeated yearly over a two to six year period in nine patients with familial polyposis coli from three families. Adenomatous polyps, one to 20 in number and 2-8 mm in size, were detected in the antrum and the first and second duodenal portions in seven patients, while hyperplastic polyps were detected in four patients in t...
A detailed clinical study of 30 families with familial polyposis coli is presented. Seven 'isolated' cases are also described. It was found that some families did not exhibit any extracolonic manifestations, but the majority of families showed various numbers of members who had these manifestations of differing types and degrees. In view of the great variability within the members of a family, ...
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