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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.

dc.contributor.authorVarley, Jennifer
dc.contributor.authorThorncroft, Mary R
dc.contributor.authorMcGown, Gail
dc.contributor.authorTricker, Karen J
dc.contributor.authorBirch, Jillian M
dc.contributor.authorEvans, D Gareth R
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.
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
html.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.


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