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Exclusion of a p53 germline mutation in a classic Li-Fraumeni syndrome family.

Abstract：

:Li-Fraumeni syndrome (LFS) is characterized by a high risk of sarcomas, early onset of breast cancer, and a diversity of other cancers occurring as multiple primary tumors in multiple family members. In many families with LFS, germline mutations within the tumor-suppressor gene p53 have been identified. However, mutations in p53 have not been detected in approximately 30% of LFS families. To address the possibility either that p53 mutations were being missed or that another predisposing gene is altered in LFS, we used a variety of methods to accurately determine the p53 status in a large LFS kindred. A transcriptional activation assay on exons 4-10 of p53 excluded a mutation within the DNA-binding domain of p53. Single-stranded conformational-polymorphism analysis, using intronic primers and sequencing of all the coding exons and intron/exon junctions, also yielded no mutations. Finally, linkage analysis excluded potential mutations in the noncoding regions of p53. Our findings exclude the presence of a p53 germline mutation in a classic LFS family.

journal_name

Hum Genet

journal_title

Human genetics

authors

Evans SC,Mims B,McMasters KM,Foster CJ,deAndrade M,Amos CI,Strong LC,Lozano G

doi

10.1007/s004390050761

subject

Has Abstract

pub_date

1998-06-01 00:00:00

pages

681-6

issue

6

eissn

0340-6717

issn

1432-1203

journal_volume

102

pub_type

杂志文章

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