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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.
Varley, Jennifer Thorncroft, Mary R McGown, Gail Tricker, Karen J Birch, Jillian M Evans, D Gareth R
Varley, Jennifer
Thorncroft, Mary R
McGown, Gail
Tricker, Karen J
Birch, Jillian M
Evans, D Gareth R
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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.
Description
Date
1996-08
Publisher
Collections
Keywords
Endometrial Cancer
Type
Article
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.