نتایج جستجو برای: familial polyposis coli
تعداد نتایج: 208445 فیلتر نتایج به سال:
Familial polyposis is of interest for its own sake as a sort of pathological curiosity and also in relation to the problem of cancer. The term " polyposis " is used to describe a widespread adenomatous proliferation of the intestinal mucous membrane, leading to the formation of multiple adenomata. It should not be applied to intestinal polyps of different histological structure, such as inflamm...
Human colon cancer is a multi-factorial, multi-step disease wherein genetic and dietary factors represent important regulators of initiation, promotion and progression. While the etiology of sporadic colon cancer remains largely unidentified, familial adenomatous polyposis (FAP) and hereditary non-polyposis colon cancer (HNPCC) represent predisposing genetic syndromes for early-onset familial/h...
Attenuated familial adenomatous polyposis (AFAP) is a variant of familial adenomatous polyposis with fewer than one hundred colorectal polyps and a later age of onset of the cancer. Here, we report two cases of AFAP within family members. Each patient demonstrated the same novel germ line mutation in exon 15 of the adenomatous polyposis coli (APC) gene and was successfully managed with sulindac...
AIM To evaluate until what age children in families with retinoblastoma should be screened. METHODS A register based cohort (n= 685) study of Dutch retinoblastoma patients (1945-1998). The records of all familial hereditary retinoblastoma patients from 1945 were reviewed and the age at diagnosis and either they were screened from birth determined. RESULTS 75 patients had the familial heredi...
PURPOSE To explore the molecular bases of potential new pharmacologic targets in aggressive fibromatosis (desmoid tumor). EXPERIMENTAL DESIGN Tumor specimens from 14 patients surgically treated for aggressive fibromatosis (6 familial adenomatous polyposis and 8 sporadic cases), analyzed for adenomatous polyposis coli (APC) and CTNNB1 (beta-catenin) mutations, were further investigated for bet...
Gardner=s syndrome refers to a group of children born with familial adenomatous (multiple) polyposis and significant extracolonic manifestations. Familial adenomatous polyposis is an autosomal dominant disorder originating from a germline alteration of the adenomatous polyposis coli gene in the long arm of chromosome 5. The most significant extracolonic manifestation of Gardner=s syndrome consi...
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