Xeroderma pigmentosum;Le xeroderma pigmentosum

Presse Medicale

Volumn 26, Issue 40, 1997, Pages 1992-1997

  Stary, A ^a   Sarasin, A ^a,b  

^a Institute de Recherche sur le Cancer   (France)

^b CNRS   (France)

Author keywords

[No Author keywords available]

Indexed keywords

BASAL CELL CARCINOMA; CANCER RISK; EXCISION REPAIR; HUMAN; PHOTOSENSITIVITY; REVIEW; SKIN CANCER; SKIN CARCINOGENESIS; SQUAMOUS CELL CARCINOMA; ULTRAVIOLET IRRADIATION; XERODERMA PIGMENTOSUM;

HUMANS; PRENATAL DIAGNOSIS; PROGNOSIS; XERODERMA PIGMENTOSUM;

EID: 0031581565     PISSN: 07554982     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

References (26)

1. Cleaver JE. Defective repair replication of DNA in xeroderma pigmentosum. Nature 1968 ; 218:652-6.
2. Kraemer KH, Lee MM, Scotto J. Xeroderma pigmentosum, cutaneous, ocular and neurological abnormalities in 830 published cases. Arch Dermatol 1987 ; 123:241-50.
3. Kraemer KH, Slor H. Xeroderma pigmentosum. Clin Dermatol 1984 ; 2: 33-69.
4. Norris PG, Limb GA, Hamblin AS et al. Immune function, mutant frequency, and cancer risk in the DNA repair defective genodermatoses xeroderma pigmentosum, Cockayne's syndrome, and trichothiodystrophy. J Invest Dermatol 1990 ; 94:94-100.
5. Gaspari AA, Fleisher TA, Kraemer KH. Impaired interferon production and natural killer cell activation in patients with the skin cancer-prone disorder, xeroderma pigmentosum. J Clin Invest 1993 ; 92:1135-42.
6. Vuillaume M, Calvayrac R, Best-Belpomme M et al. Deficiency in the catalase activity of xeroderma pigmentosum cell and simian virus 40-transformed human cell extracts. Cancer Res 1986 ; 46:538-44.
7. Kraemer KH, Levy DD, Parris CN et al. Xeroderma pigmentosum and related disorders: examining the linkage between defective DNA repair and cancer. J Invest Dermatol 1994 ; 103:96-101.
8. Hanawalt PC, Sarasin A. Cancer-prone hereditary diseases with DNA processing abnormalities. TIG 1986 ; 2:124-9.
9. Marionnet C, Benoit A, Benhamou S, Sarasin A, Stary A. Characteristics of UV-induced mutation spectra in human XP-D/ERCC2 gene-mutated xeroderma pigmentosum and trichothiodystrophy cells. J Mol Biol 1995 ; 252:550-62.
10. Daya-Grosjean L, Robert C, Drougard C, Suarez HG, Sarasin A. High mutation frequency in ras genes of skin tumors isolated from DNA repair deficient xeroderma pigmentosum patients. Cancer Res 1993 ; 53:1625-9.
11. Dumaz N, Drougard C, Sarasin A, Daya-Grosjean L. Specific UV-induced mutation spectrum in the P53 gene of skin tumors from DNA repair deficient xeroderma pigmentosum patients. Proc Natl Acad Sci USA 1993 ; 90:10529-33.
12. De Weerd-Kastelein EA, Keijer W, Bootsma D. Genetic heterogeneity of xeroderma pigmentosum demonstrated by somatic cell hybridization. Nature 1972 ; 238:80-3.
13. Ma L, Hoeijmakers JH, Van der Eb AJ. Mammalian nucleotide excision repair. Bioch Biophy Acta 1995 ; 1242:137-64.
14. Sarasin A. Les gènes humains de la réparation de I'ADN. Médecine/Sciences 1994 ; 10:43-54.
15. Bohr VA, Philipps DH, Hanawalt PC. Heterogeneous DNA damage and repair in the mammalian genome. Cancer Res 1987 ; 47:6426-36.
16. Venema J, van Hoffen A, Natarajan AT, van Zeeland AA, Mullenders LH. The residual repair capacity of xeroderma pigmentosum complementation group C fibroblasts is highly specific for transcriptionally active DNA. Nucleic Acids Res 1990 ; 18:443-8.
17. Frieberg EC. Cockayne syndrome - a primary defect in DNA repair, transcription, both or neither. BioEssays 1996 ; 18:731-8.
18. Schaeffer L, Egly JM. BTF2/TFIIH, un facteur entre transcription et réparation impliqué dans des maladies de la réparation de I'ADN. Médecine/Sciences 1994 ; 10:973-8.
19. Dumaz N, Stary A, Soussi T, Daya-Grosjean L, Sarasin A. Can we predict solar ultraviolet radiation as the causal event in human tumours by analysing the mutation spectra of the p53 gene? Mutat Res 1994 ; 307:375-86.
20. Sarasin A, Robert-Knebelmann C, Margulis A, Zghal M, Daya-Grosjean L. Oncogene activation in ultraviolet-induced skin tumors from normal individuals and xeroderma pigmentosum patients. Radiation Res 1992 ; 2:386-91.
21. Wei Q, Matanoski GM, Farmer ER, Hedayati MA, Grossman L. DNA-repair and susceptibility to basal cell carcinoma: a case-control study. Am J Epidemiol 1994 ; 140:598-607.
22. Sarasin A, Renault G, Blanchet-Bardon C, Boue J, Dumez Y. Le xeroderma pigmentosum : caractéristiques cliniques, génétiques et cellulaires. Développement d'un test anténatal. Médecine/Sciences 1988 ; 4:608-17.
23. Mezzina M, Sarasin A. Vers la thérapie génique du xeroderma pigmentosum. Médecine/Sciences 1996 ; 6-7:805.
24. Sarasin A. The paradox of DNA repair-deficient diseases. Cancer J 1991 ; 4:233-7.
25. Stary A, Sarasin A. The genetic basis of xeroderma pigmentosum and trichothiodystrophy syndromes. Cancer Surveys 1996 ; 26:155-71.
26. Vuillaume M, Daya-Grosjean L, Vincens P et al. Striking differences in cellular catalase activity between two DNA repair-deficient diseases : xeroderma pigmentosum and trichothiodystrophy. Carcinogenesis 1992 ; 13:321-8.