title: Heterogeneous response to X-ray and ultraviolet light irradiations of cultured skin fibroblasts in two families with Gardner's Syndrome.
abstract: A heterogeneous response to X-ray and far UV (254 nm) light irradiations was found in cultured skin fibroblast lines from 2 separate families with Gardner's syndrome. When compared to 2 normal control cultures and cultures from 2 patients with nonfamilial colon cancer, cultures from 4 clinically affected members of family 1 showed increased sensitivity to the lethal effects of both X-ray and UV light irradiations. These cells also showed a delayed pattern of X-ray potentially lethal damage repair (PLDR) and absent UV PLDR. In contrast, cultures from 3 members of family 2 (2 of whom were clinically affected) showed a normal response of survival and PLDR to both X-ray and UV light irradiations. Thus increased sensitivity of cultured skin fibroblasts to X-ray and UV light irradiations was not a consistent in vitro finding in patients with Gardner's syndrome. However, in families with Gardner's syndrome who demonstrate in vitro radiosensitivity, additional studies are needed to assess the usefulness of these techniques in detecting affected individuals prior to the development of colon carcinoma and other manifestations.
mesh_terms: D000293:Adolescent; D000328:Adult; D002470:Cell Survival; D002478:Cells, Cultured; D004260:DNA Repair; D005736:Gardner Syndrome / Q000235:genetics* / Q000473:pathology; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008875:Middle Aged; D010641:Phenotype; D011836:Radiation Tolerance; D012306:Risk; D012867:Skin / Q000473:pathology / Q000528:radiation effects*; D014466:Ultraviolet Rays; D014965:X-Rays