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

J. M. Varley; M. Thorncroft; G. McGown; K. Tricker; J. M. Birch; D. G R Evans

doi:10.1016/0165-4608(96)00059-3

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

J. M. Varley, M. Thorncroft, G. McGown, K. Tricker, J. M. Birch, D. G R Evans

Research output: Contribution to journal › Article › peer-review

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.

Original language	English
Pages (from-to)	14-16
Number of pages	2
Journal	Cancer Genetics and Cytogenetics
Volume	90
Issue number	1
DOIs	https://doi.org/10.1016/0165-4608(96)00059-3
Publication status	Published - Aug 1996

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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",

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.",

author = "Varley, {J. M.} and M. Thorncroft and G. McGown and K. Tricker and Birch, {J. M.} and Evans, {D. G R}",

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T1 - 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

AU - Varley, J. M.

AU - Thorncroft, M.

AU - McGown, G.

AU - Tricker, K.

AU - Birch, J. M.

AU - Evans, D. G R

PY - 1996/8

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AB - 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.

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DO - 10.1016/0165-4608(96)00059-3

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SN - 0165-4608

VL - 90

SP - 14

EP - 16

JO - Cancer Genetics and Cytogenetics

JF - Cancer Genetics and Cytogenetics

IS - 1

ER -

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

Abstract

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