Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0699790 (colon cancer)
 28,837 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Congenital hypertrophy of the retinal pigment epithelium was seen in three affected members of a kindred with Gardner's syndrome. The latter consists of a triad of many intestinal polyps, hard-tissue abnormalities, and soft-tissue abnormalities. Although the appearance of the individual lesions in our patients was typical of hypertrophy of the retinal pigment epithelium, the following atypical features were present: multiple lesions per eye; bilateral occurrence; familial transmission; and association with systemic disease. Ophthalmoscopic examination can help identify children who are at risk of developing polyposis and carcinoma of the colon. In some instances, Gardner's syndrome may be diagnosed in a patient and his family as a result of observing the fundus lesions.
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PMID:Hypertrophy of the retinal pigment epithelium associated with Gardner's syndrome. 744 47

Familial Adenomatous Polyposis (FAP) is a dominant autosomic disease characterized by the development of hundreds to thousands of colonic adenomatous polyps. Affected patients have a 100% risk of colon cancer development if they are not submitted to a prophylactic colectomy. Identification of carriers depends on the detection of colonic polyps, and endoscopic surveillance must be offered to all descendents, including healthy individuals. Congenital hypertrophy of the retinal pigment epithelium (CHRPE) has been suggested to have a correlation with FAP trait, even before colonic polyp development. The objective of this study is to evaluate CHRPE as a diagnostic marker in FAP patients and descendents. CHRPE was studied in 26 members of 7 FAP families, using direct and indirect ophthalmoscopy, biomicroscopy and retinography. It was found in 62.5% of patients and in 10% of the descendents at risk. Two families did not show signs of CHRPE. Affected members in the remaining families, had positive examinations in 83.3% (two affected members were negative). These results suggest that CHRPE is an important diagnostic tool to identify FAP patients in those families which express the marker. To those descendents who have negative examinations, whether they belong to positive or negative CHRPE families, identification of FAP trait depends on endoscopic surveillance in order to detect colonic polyps.
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PMID:[Value of congenital hypertrophy of the retinal pigment epithelium as diagnostic marker in familial adenomatous polyposis]. 839 71

Familial adenomatous polyposis (FAP) is a familial form of colon cancer caused by mutation of the adenomatous polyposis coli (APC) gene. Although the APC gene has been extensively studied in the Caucasian population, it has not been previously described in the Chinese population. In the present study, we investigated APC mutation and phenotypic spectrum in the Singapore FAP families who are predominantly Chinese. The protein truncation test (PTT) was used to screen the entire APC gene for germline mutations in 28 unrelated families. Fifteen different mutations were identified in 22 families. Eight mutations were 1-11 basepair deletions or insertions; three involved deletions of whole exons and four were nonsense mutations. Nine of the mutations, including two complex rearrangements, are novel. Eight families including three de novo cases have the same (AAAGA) deletion at codon 1309, indicating that like the Western families, codon 1309 is also the mutation 'hot spot' for Singapore FAP families. In contrast, we did not find any mutation in codon 1061, the second hot spot for the Western population. Congenital hypertrophy of the retinal pigment epithelium (CHRPE) is consistently associated with the prescribed domain (codons 463 to 1387) and is the only phenotype with no intra-family variation. Other than CHRPE, differences in the type and frequency of extracolonic manifestations within the FAP families suggest the influence of modifying genes and environmental factors.
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PMID:APC mutation and phenotypic spectrum of Singapore familial adenomatous polyposis patients. 1071 86