A detailed study of loss of heterozygosity on chromosome 17 in tumours from Li-Fraumeni patients carrying a mutation to the TP53 gene.

2.50
Hdl Handle:
http://hdl.handle.net/10541/95215
Title:
A detailed study of loss of heterozygosity on chromosome 17 in tumours from Li-Fraumeni patients carrying a mutation to the TP53 gene.
Authors:
Varley, Jennifer; Thorncroft, Mary R; McGown, Gail; Appleby, J; Kelsey, Anna M; Tricker, K J; Evans, D Gareth R; Birch, Jillian M
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.
Affiliation:
CRC Department of Cancer Genetics, Paterson Institute for Cancer Research, Manchester, UK.
Citation:
A detailed study of loss of heterozygosity on chromosome 17 in tumours from Li-Fraumeni patients carrying a mutation to the TP53 gene. 1997, 14 (7):865-71 Oncogene
Journal:
Oncogene
Issue Date:
20-Feb-1997
URI:
http://hdl.handle.net/10541/95215
DOI:
10.1038/sj.onc.1201041
PubMed ID:
9047394
Type:
Article
Language:
en
ISSN:
0950-9232
Appears in Collections:
All Paterson Institute for Cancer Research

Full metadata record

DC FieldValue Language
dc.contributor.authorVarley, Jenniferen
dc.contributor.authorThorncroft, Mary Ren
dc.contributor.authorMcGown, Gailen
dc.contributor.authorAppleby, Jen
dc.contributor.authorKelsey, Anna Men
dc.contributor.authorTricker, K Jen
dc.contributor.authorEvans, D Gareth Ren
dc.contributor.authorBirch, Jillian Men
dc.date.accessioned2010-03-30T08:33:26Z-
dc.date.available2010-03-30T08:33:26Z-
dc.date.issued1997-02-20-
dc.identifier.citationA detailed study of loss of heterozygosity on chromosome 17 in tumours from Li-Fraumeni patients carrying a mutation to the TP53 gene. 1997, 14 (7):865-71 Oncogeneen
dc.identifier.issn0950-9232-
dc.identifier.pmid9047394-
dc.identifier.doi10.1038/sj.onc.1201041-
dc.identifier.urihttp://hdl.handle.net/10541/95215-
dc.description.abstractWe 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.en
dc.language.isoenen
dc.subjectCanceren
dc.subject.meshChromosome Deletion-
dc.subject.meshChromosomes, Human, Pair 17-
dc.subject.meshGenes, p53-
dc.subject.meshHumans-
dc.subject.meshLi-Fraumeni Syndrome-
dc.subject.meshMutation-
dc.subject.meshNeoplasms-
dc.titleA detailed study of loss of heterozygosity on chromosome 17 in tumours from Li-Fraumeni patients carrying a mutation to the TP53 gene.en
dc.typeArticleen
dc.contributor.departmentCRC Department of Cancer Genetics, Paterson Institute for Cancer Research, Manchester, UK.en
dc.identifier.journalOncogeneen

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