Abstract：
:Fifty-eight skin biopsies and three primary internal tumors from patients affected by the rare hereditary disease xeroderma pigmentosum (XP) were studied by an improved PCR-single strand conformation polymorphism analysis to detect the mutations of the tumor suppressor gene p53. The results from cutaneous XP tumors, including 27 squamous cell carcinomas and 6 basal cell carcinomas, show a very high level (86%) of p53 mutations. The analysis of mutations found in XP skin cancers according to the complementation group of the patients shows that tandem CC-->TT transitions are a characteristic of XP-C patients with a frequency much higher in their skin tumors (85%) compared with tumors in XP patients who do not belong to group C (33%). In all XP-C biopsies, mutations were due to replication of unrepaired DNA lesions on the nontranscribed strand of the p53 gene, substantiating the preferential repair in vivo of the transcribed strand of this gene in human tissues. For the first time, we were able to analyze three primary internal tumors (a neuroendocrine tumor of the thyroid, a gastric adenocarcinoma, and a glioma of the brain) of young XP children. All of them contained one mutation on the p53 gene, which were different from the ones found in the XP skin tumors and could have resulted from unrepaired lesions caused by oxidative damage.
journal_name
Cancer Resjournal_title
Cancer researchauthors
Giglia G,Dumaz N,Drougard C,Avril MF,Daya-Grosjean L,Sarasin Asubject
Has Abstractpub_date
1998-10-01 00:00:00pages
4402-9issue
19eissn
0008-5472issn
1538-7445journal_volume
58pub_type
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