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Turcot's syndrome of
glioma and polyposis occurs in the absence of germ line mutations of exons 5 to
9 of the p53 gene
Kikuchi T, Rempel SA, Rutz HP, de Tribolet N, Mulligan L, Cavenee WK, Jothy
S, Leduy L, Van Meir EG
Laboratoire de Genetique et Biologie des Tumeurs, Centre
Hospitalier Universitaire Vaudois, Lausanne, Switzerland
The term "Turcot's syndrome" has been used to describe
approximatively 55 patients with an association of colonic polyposis and primary
neuroepithelial tumors of the central nervous system.
The p53 tumor suppressor gene is a possible candidate underlying the syndrome
because
(a) mutations in the p53 gene are ubiquitous in human cancer, including colon
carcinoma and gliomas, and
(b) somatic or germ line mutations of the p53 tumor suppressor gene cause the
Li-Fraumeni syndrome, which is characterized by the association of breast and
soft tissue tumors.
We determined the DNA sequence of the conserved regions of the p53 gene (exons 5
to 9) in the tumor tissues and lymphocytes of two patients with glioma-polyposis
and found that mutations did occur as independent tumor-specific alterations but
did not involve the germ line of these patients, suggesting that p53 may play a
role in progression but not initiation of the disease.
PMID:
8439970 [PubMed - indexed for MEDLINE]
Source: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uids=8439970
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