Abstract
We have studied a total of 36 tumours from 28 patients with germline mutations to the TP53 gene for loss of heterozygosity at TP53 using techniques of both direct sequencing and restriction fragment length polymorphism analysis. All patients were from families conforming to the definition of classical Li – Fraumeni syndrome (LFS) or were Li – Fraumeni-like (LFL). The data we have obtained show that loss of the wild-type TP53 gene is observed in under half (44%) of all tumours, and that the pattern of LOH at TP53 may be mutation specific. LOH has been observed in premalignant as well as invasive tumours. Two tumours (6%) show loss of the mutant allele and retention of the wild-type. To confirm that TP53 is indeed the target for LOH events on chromosome 17, we have used additional microsatellite repeats to examine patterns of allelic imbalance along the length of chromosome 17. Data from this analysis indicate that TP53 is the target of loss, but reveal some other interesting patterns of allelic imbalance at other loci on chromosome 17.
This is a preview of subscription content, access via your institution
Access options
Subscribe to this journal
Receive 50 print issues and online access
$259.00 per year
only $5.18 per issue
Buy this article
- Purchase on Springer Link
- Instant access to full article PDF
Prices may be subject to local taxes which are calculated during checkout
Similar content being viewed by others
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Varley, J., Thorncroft, M., McGown, G. et al. A detailed study of loss of heterozygosity on chromosome 17 in tumours from Li – Fraumeni patients carrying a mutation to the TP53 gene. Oncogene 14, 865–871 (1997). https://doi.org/10.1038/sj.onc.1201041
Received:
Revised:
Accepted:
Issue Date:
DOI: https://doi.org/10.1038/sj.onc.1201041
Keywords
This article is cited by
-
Germline TP53 mutations undergo copy number gain years prior to tumor diagnosis
Nature Communications (2023)
-
Targeted gene panels identify a high frequency of pathogenic germline variants in patients diagnosed with a hematological malignancy and at least one other independent cancer
Leukemia (2021)
-
DNAJA1 controls the fate of misfolded mutant p53 through the mevalonate pathway
Nature Cell Biology (2016)
-
Overexpression of p53 protein in human tumors
Medical Molecular Morphology (2012)
-
Resistance of mitochondrial p53 to dominant inhibition
Molecular Cancer (2008)