Clinical symptoms and DNA repair characteristics of xeroderma pigmentosum patients from Germany

Journal Article · Mon Jul 01 00:00:00 EDT 1991 · Cancer Research; (United States)

OSTI ID:5011730

Thielmann, H W; Popanda, O; Edler, L; Jung, E G ^[1]

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1. German Cancer Research Center, Heidelberg (F.R. Germany)

Sixty-one xeroderma pigmentosum (XP) patients living in the Federal Republic of Germany were investigated. Clinical symptoms were correlated with DNA repair parameters measured in fibroblasts grown from skin biopsies. Classification according to the international complementation groups revealed that of the 61 patients 3 belonged to group A, 26 to group C, 16 to group D, 3 to group E, and 2 to group F; 11 were of the XP variant type. A striking clinical aspect was the frequency of histogenetically different skin tumors varying from one XP complementation group to the other: squamous and basal cell carcinomas predominated in XP group C; lentigo maligna melanomas were most frequent in group D; basal cell carcinomas occurred preferentially in group E and XP variants. Three DNA repair parameters were determined for 46 fibroblast strains: colony-forming ability (D0); DNA repair synthesis (G0); and DNA-incising capacity (E0). Dose-response experiments with up to 13 dose levels were performed throughout to achieve sufficient experimental accuracy. DNA-damaging treatments included UV light, the 'UV-like' carcinogen N-acetoxy-2-acetylaminofluorene, and the alkylating carcinogens methyl methanesulfonate and N-methyl-N-nitrosourea. Comparison of clinical signs and repair data was made on the basis of D0, G0, and E0 values of both individual cell strains and weighted means of XP complementation groups. Despite considerable clinical and biochemical heterogeneity within complementation groups distinctive features emerged. In general, D0, G0, and E0 values of all XP strains investigated, including XP variants, were found to be reduced upon treatment with UV light or N-acetoxy-2-acetylaminofluorene.

• OSTI ID: 5011730
• Journal Information: Cancer Research; (United States), Vol. 51:13; ISSN 0008-5472
• Country of Publication: United States
• Language: English

Related Subjects

63 RADIATION, THERMAL, AND OTHER ENVIRON. POLLUTANT EFFECTS ON LIVING ORGS. AND BIOL. MAT.
FLUORENE
GENETIC EFFECTS
METHYL METHANESULFONATE
METHYL NITROSOUREA
XP CELLS
DNA REPAIR
CELL DIVISION
DOSE-RESPONSE RELATIONSHIPS
FEDERAL REPUBLIC OF GERMANY
FIBROBLASTS
IN VITRO
REGRESSION ANALYSIS
TUMOR CELLS
ULTRAVIOLET RADIATION
XERODERMA PIGMENTOSUM
ANIMAL CELLS
AROMATICS
BIOLOGICAL EFFECTS
BIOLOGICAL RECOVERY
BIOLOGICAL REPAIR
CARBONIC ACID DERIVATIVES
CONDENSED AROMATICS
CONNECTIVE TISSUE CELLS
DEVELOPED COUNTRIES
DISEASES
ELECTROMAGNETIC RADIATION
ESTERS
EUROPE
HYDROCARBONS
MATHEMATICS
MUTAGENS
NITROSO COMPOUNDS
ORGANIC COMPOUNDS
ORGANIC NITROGEN COMPOUNDS
ORGANIC SULFUR COMPOUNDS
RADIATIONS
RECOVERY
REPAIR
SKIN DISEASES
SOMATIC CELLS
STATISTICS
SULFONIC ACID ESTERS
560120* - Radiation Effects on Biochemicals
Cells
& Tissue Culture
560300 - Chemicals Metabolism & Toxicology