Emergent Issues and Trends in Research

The ideal gold standard would be a gene technique that would allow the removal of the diseased gene and implant a disease-free gene. At present this is still pure speculation. Most of the research deals with systems for screening the germline mutations in the adenoma-tous polyposis coli (APC) gene that predisposes the disease susceptibility in familial adenomatous polyposis. Nowadays, there are technical systems that detect the mutations in APC gene. They might be useful in the molecular diagnosis of presymptomatic cases in FAP family. The clinical features of FAP patients may be related to the genotypes of their APC gene. However, there are other interesting ways of approaching the problem of a presymptomatic carrier risk assessment in familial adenomatous polyposis such as the combined use of molecular- and biomarkers. Predictive carrier testing for the inherited disorder of familial adenomatous polyposis can be conducted using DNA markers linked to the FAP locus. The presence of characteristic hypertrophic retinal lesions has been advocated as useful biomarkers for FAP. Bapat et al. [1] have compared molecular linkage and retinal screening techniques by evaluating the presympto-matic carrier risk of 40 at-risk individuals from 15 FAP families. Linkage analysis was informative in all the cases as was retinal lesion analysis in 25 cases. For identification of the at-risk population, predictive diagnosis by both techniques was completely concordant and identified 15 members at "high" and 10 at "low" risk of inheriting FAP. Another relevant matter regarding future trends in FAP research are the bio-markers for carcinogenesis and the use of drugs to prevent the evolution to the final stage of cancer.

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