[Role of tumor marker in the presymptomatic diagnosis of hereditary malignant tumors].
Oncogene is not categorized as a tumor marker in a strict sense, however, cancer related oncogens play an important role as a biomarker in hereditary malignant tumors in a wide sense. Various suppressor oncogenes have been identified in the autosomal dominant hereditary diseases such as APC, in familial adenomatous polyposis, p53 in Li-Fraumeni syndrome and BRACA 1 and 2 in breast cancer. By identifying the mutation site or deletions of germ line, it is possible to make a presymptomatic diagnosis of those hereditary malignant tumors. There is splendid progress in understanding of DNA repair mechanism. Recently, the mismatch repair genes were cloned as a causing gene of HNPCC. There are another group of genes called nucleotide excision repair genes which are causative genes of various autosomal recessive hereditary diseases such as xeroderama pigmentation. Pro and cons of presymptomatic diagnosis of familial adenomatous polyposis were discussed in a series of 72 patients among 42 family trees.
Baba
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Second Department of Surgey, Hamamatsu University School of Medicine.
Ando
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H
D011125:Adenomatous Polyposis Coli / Q000175:diagnosis; D014408:Biomarkers, Tumor / Q000032:analysis*; D003123:Colorectal Neoplasms, Hereditary Nonpolyposis / Q000175:diagnosis; D005260:Female; D016147:Genes, Tumor Suppressor; D006801:Humans; D008297:Male; D009369:Neoplasms / Q000175:diagnosis* / Q000235:genetics*; D009857:Oncogenes
D014408:Biomarkers, Tumor