Turcot's syndrome of glioma and polyposis occurs in the absence of germ line mutations of exons 5 to 9 of the p53 gene.

Abstract:

: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.

journal_name

Cancer Res

journal_title

Cancer research

authors

Kikuchi T,Rempel SA,Rutz HP,de Tribolet N,Mulligan L,Cavenee WK,Jothy S,Leduy L,Van Meir EG

subject

Has Abstract

pub_date

1993-03-01 00:00:00

pages

957-61

issue

5

eissn

0008-5472

issn

1538-7445

journal_volume

53

pub_type

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