The transformed (initiated) human cell phenotype: study of cultured skin fibroblasts from individuals predisposed to cancer.

The present study demonstrated the expression of abnormal phenotypes (biomarkers) in cultured skin fibroblasts from hereditary adenomatosis of the colon and rectum (ACR) and neurofibromatosis (NF) patients. These biomarkers occur systemically and they include cytoskeletal structures, cytotoxicity and sensitivity to transformation by oncogenic agents, expression of transformation-associated antigen, and effects by a tumor promoter. Collectively, these biomarkers define the transformed (initiated) human cell phenotype, as determined through use of cultured skin fibroblasts that were obtained from individuals at risk of cancer. In conjunction with clinical signs, these biomarkers can be used to determine gene expression and gene penetrance. Extension of these studies in the form of a multiparameter matrix may permit the early detection of cancer.