A novel deletion within exon 6 of TP53 in a family with Li-Fraumeni-like syndrome, and LOH in a benign lesion from a mutation carrier.

2.50
Hdl Handle:
http://hdl.handle.net/10541/95609
Title:
A novel deletion within exon 6 of TP53 in a family with Li-Fraumeni-like syndrome, and LOH in a benign lesion from a mutation carrier.
Authors:
Varley, Jennifer; Thorncroft, Mary R; McGown, Gail; Tricker, Karen J; Birch, Jillian M; Evans, D Gareth R
Abstract:
We report here a family with some of the characteristics of Li-Fraumeni syndrome (Li-Fraumeni-like) in which there is a 2 base pair deletion within exon 6 of TP53 in two affected individuals. Of particular interest in this family is a study of loss of heterozygosity (LOH) of the TP53 gene, and the finding that there is LOH in all cancers available for study from mutation carriers, and additionally from a benign endometrial polyp from one of those patients. Two other family members, one with a rectal carcinoma aged 55, the other with two separate benign lesions under the age of 45, were both wild-type for the TP53 mutation.
Affiliation:
CRC Department of Cancer Genetics, Christie Hospital, Manchester, U.K.
Citation:
A novel deletion within exon 6 of TP53 in a family with Li-Fraumeni-like syndrome, and LOH in a benign lesion from a mutation carrier. 1996, 90 (1):14-6 Cancer Genet. Cytogenet.
Journal:
Cancer Genetics and Cytogenetics
Issue Date:
Aug-1996
URI:
http://hdl.handle.net/10541/95609
DOI:
10.1016/0165-4608(96)00059-3
PubMed ID:
8780740
Type:
Article
Language:
en
ISSN:
0165-4608
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.authorTricker, Karen Jen
dc.contributor.authorBirch, Jillian Men
dc.contributor.authorEvans, D Gareth Ren
dc.date.accessioned2010-04-06T09:48:58Z-
dc.date.available2010-04-06T09:48:58Z-
dc.date.issued1996-08-
dc.identifier.citationA novel deletion within exon 6 of TP53 in a family with Li-Fraumeni-like syndrome, and LOH in a benign lesion from a mutation carrier. 1996, 90 (1):14-6 Cancer Genet. Cytogenet.en
dc.identifier.issn0165-4608-
dc.identifier.pmid8780740-
dc.identifier.doi10.1016/0165-4608(96)00059-3-
dc.identifier.urihttp://hdl.handle.net/10541/95609-
dc.description.abstractWe report here a family with some of the characteristics of Li-Fraumeni syndrome (Li-Fraumeni-like) in which there is a 2 base pair deletion within exon 6 of TP53 in two affected individuals. Of particular interest in this family is a study of loss of heterozygosity (LOH) of the TP53 gene, and the finding that there is LOH in all cancers available for study from mutation carriers, and additionally from a benign endometrial polyp from one of those patients. Two other family members, one with a rectal carcinoma aged 55, the other with two separate benign lesions under the age of 45, were both wild-type for the TP53 mutation.en
dc.language.isoenen
dc.subjectEndometrial Canceren
dc.subject.meshAdult-
dc.subject.meshBase Sequence-
dc.subject.meshChild-
dc.subject.meshEndometrial Neoplasms-
dc.subject.meshExons-
dc.subject.meshFemale-
dc.subject.meshGenes, p53-
dc.subject.meshHeterozygote-
dc.subject.meshHumans-
dc.subject.meshLi-Fraumeni Syndrome-
dc.subject.meshMale-
dc.subject.meshMiddle Aged-
dc.subject.meshMolecular Sequence Data-
dc.subject.meshPedigree-
dc.subject.meshPolyps-
dc.subject.meshSequence Deletion-
dc.titleA novel deletion within exon 6 of TP53 in a family with Li-Fraumeni-like syndrome, and LOH in a benign lesion from a mutation carrier.en
dc.typeArticleen
dc.contributor.departmentCRC Department of Cancer Genetics, Christie Hospital, Manchester, U.K.en
dc.identifier.journalCancer Genetics and Cytogeneticsen

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