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, JenniferThorncroft, Mary R
McGown, Gail
Appleby, J
Kelsey, Anna M
Tricker, K J
Evans, D Gareth R
Birch, Jillian M
Affiliation
CRC Department of Cancer Genetics, Paterson Institute for Cancer Research, Manchester, UK.Issue Date
1997-02-20
Metadata
Show full item recordAbstract
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.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 OncogeneJournal
OncogeneDOI
10.1038/sj.onc.1201041PubMed ID
9047394Type
ArticleLanguage
enISSN
0950-9232ae974a485f413a2113503eed53cd6c53
10.1038/sj.onc.1201041
Scopus Count
Collections
Related articles
- Germ-line mutations of TP53 in Li-Fraumeni families: an extended study of 39 families.
- Authors: Varley JM, McGown G, Thorncroft M, Santibanez-Koref MF, Kelsey AM, Tricker KJ, Evans DG, Birch JM
- Issue date: 1997 Aug 1
- Li-Fraumeni and related syndromes: correlation between tumor type, family structure, and TP53 genotype.
- Authors: Olivier M, Goldgar DE, Sodha N, Ohgaki H, Kleihues P, Hainaut P, Eeles RA
- Issue date: 2003 Oct 15
- Germline mutations in the TP53 gene.
- Authors: Eeles RA
- Issue date: 1995
- TP53 germline mutation testing in 180 families suspected of Li-Fraumeni syndrome: mutation detection rate and relative frequency of cancers in different familial phenotypes.
- Authors: Ruijs MW, Verhoef S, Rookus MA, Pruntel R, van der Hout AH, Hogervorst FB, Kluijt I, Sijmons RH, Aalfs CM, Wagner A, Ausems MG, Hoogerbrugge N, van Asperen CJ, Gomez Garcia EB, Meijers-Heijboer H, Ten Kate LP, Menko FH, van 't Veer LJ
- Issue date: 2010 Jun
- The TP53 mutation, R337H, is associated with Li-Fraumeni and Li-Fraumeni-like syndromes in Brazilian families.
- Authors: Achatz MI, Olivier M, Le Calvez F, Martel-Planche G, Lopes A, Rossi BM, Ashton-Prolla P, Giugliani R, Palmero EI, Vargas FR, Da Rocha JC, Vettore AL, Hainaut P
- Issue date: 2007 Jan 8