By Nadia Shalaby, Yitzchak Gottlieb, Mike Wawrzoniak, Larry Peterson (auth.), James Sterbenz, Osamu Takada, Christian Tschudin, Bernhard Plattner (eds.)
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Extra info for Active Networks: IFIP-TC6 4th International Working Conference, IWAN 2002 Zurich, Switzerland, December 4–6, 2002 Proceedings
For example, in the case of familial adenornatous polyposis (FAP) or its so-called Gardner's syndrome variant, nultiple adenomatous colonic polyps, cutaneous signs such as epidermoid cysts, osteomas and congenital hypertrophy of the retinal pig~ent epithelium (CHRPE) will represent cardinal physical signs for the assessment of genetic risk status. On the other hand, when distinguishing signs are lacking, as is the case for the Lynch syndromes, one must then rely exclusively on pedigree interpretation in concert with knowledge of the natural history pattern of the cancer phenotype [Lynch & Lynch 1985].
1. CONCLUSION APC has been intensively studied because of its characteristic manifestations with classical mendelian dominant inheritance which provided us with an excellent model for genetic implication for colorectal carcinogenesis. The information and knowledge thus accumulated were found to be applicable to the study of HNPCC. Hereditary colorectal cancer was estimated to occupy more or less 8% of general colorectal cancer. Nevertheless, the study was considered to be one of the most effective approaches to the elucidation of etiology, pathology and and management of colorectal cancer.
We became interested some years ago in the effort to map the polyposis gene, with the goal of better characterizing its genetics and in the hope that chromosomal localization would serve as a basis for its cloning and characterization. More than 100 DNA markers had been tested for linkage to APC when we became aware that Herrera et al. (1986) had found a deletion in the long arm of chromosome 5 in a polyposis patient. Use of several DNA markers from chromosome 5, especially the Cllpll probe sent to us by Peter Scambler (Leppert and others, 1987), mapped the polyposis gene to chromosome 5q (Leppert and others, 19877 Bodmerand others, 1987) within the region indicated in Figure 1.
Active Networks: IFIP-TC6 4th International Working Conference, IWAN 2002 Zurich, Switzerland, December 4–6, 2002 Proceedings by Nadia Shalaby, Yitzchak Gottlieb, Mike Wawrzoniak, Larry Peterson (auth.), James Sterbenz, Osamu Takada, Christian Tschudin, Bernhard Plattner (eds.)