Somatic Mutations in Familial Adenomatous Polyps

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منابع مشابه

Prevention and management of duodenal polyps in familial adenomatous polyposis.

Correspondence to: Mr L Brosens, Department of Pathology, Academic Medical Center, Meibergdreef 9, Amsterdam 1105 AZ, the Netherlands; l.a.brosens@ amc.uva.nl _________________________ F amilial adenomatous polyposis (FAP) is one of two well described forms of hereditary colorectal cancer. The primary cause of death from this syndrome is colorectal cancer which inevitably develops usually by th...

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Association 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...

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A Preponderance of Polyps: Sequelae of Familial Adenomatous Polyposis

A man in his fourth decade with familial adenomatous polyposis (FAP) and previous colectomy due to colon adenocarcinoma underwent esophagogastroduodenoscopy (EGD) to investigate 3 days of nausea, epigastric abdominal pain, and coffee ground emesis; no source of bleeding was found. During the endoscopy, patchy mucosal abnormalities throughout the duodenum were identified and biopsied (Figure 1)....

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Hemochromatosis gene mutations and distal adenomatous colorectal polyps.

Iron has been suggested to be a risk factor for colorectal neoplasia. Some individuals who are heterozygous for mutations in the hemochromatosis gene (HFE) have higher than average serologic measures of iron. We therefore investigated whether heterozygosity for HFE mutations was related to risk of advanced distal adenoma and whether the relationship was affected by dietary iron intake. In the P...

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Fasting Hyperglycemia and Insulin Resistance in Colorectal Adenomatous Polyps

OBJECTIVES: To investigate fasting glucose, glucose tolerance, insulin resistance and insulin–like growth factor 1 in patients with or without colorectal polyps. MATERIALS AND METHODS: In this cross-sectional study, we evaluated fasting glucose, insulin, insulin–like growth factor 1 (IGF-1), lipid profile and glucose tolerance test in 103 patients undergoing colonoscopy (52 normal and 53 wit...

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ژورنال

عنوان ژورنال: American Journal of Clinical Pathology

سال: 2003

ISSN: 0002-9173

DOI: 10.1309/4e4w-g3ay-gjnc-d11p