A novel TP53 splicing mutation in a Li-Fraumeni syndrome family: A patient with Wilms' tumour is not a mutation carrier

Gareth Evans; J. M. Varley; G. McGown; M. Thorncroft; G. R M White; K. J. Tricker; A. M. Kelsey; J. M. Birch; D. G R Evans

A novel TP53 splicing mutation in a Li-Fraumeni syndrome family: A patient with Wilms' tumour is not a mutation carrier

Gareth Evans
, J. M. Varley
, G. McGown
, M. Thorncroft
, G. R M White
, K. J. Tricker
, A. M. Kelsey
, J. M. Birch
, D. G R Evans

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

Abstract

We report a Li-Fraumeni syndrome family in which we have detected a splice acceptor mutation in intron 3 of TP53. The mutation affects one of the invariant residues at the splice acceptor site, as a result of which two aberrant transcripts are produced. A child with Wilms' tumour aged 3 years in this family was shown not to be a mutation carrier.

Original language	English
Pages (from-to)	1081-1083
Number of pages	2
Journal	British Journal of Cancer
Volume	78
Issue number	8
Publication status	Published - 1998

Keywords

Li-Fraumeni syndrome
Splicing
TP53
Wilms' tumour

Cite this

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title = "A novel TP53 splicing mutation in a Li-Fraumeni syndrome family: A patient with Wilms' tumour is not a mutation carrier",

abstract = "We report a Li-Fraumeni syndrome family in which we have detected a splice acceptor mutation in intron 3 of TP53. The mutation affects one of the invariant residues at the splice acceptor site, as a result of which two aberrant transcripts are produced. A child with Wilms' tumour aged 3 years in this family was shown not to be a mutation carrier.",

keywords = "Li-Fraumeni syndrome, Splicing, TP53, Wilms' tumour",

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

year = "1998",

language = "English",

volume = "78",

pages = "1081--1083",

journal = "British Journal of Cancer",

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T1 - A novel TP53 splicing mutation in a Li-Fraumeni syndrome family: A patient with Wilms' tumour is not a mutation carrier

AU - Evans, Gareth

AU - Varley, J. M.

AU - McGown, G.

AU - Thorncroft, M.

AU - White, G. R M

AU - Tricker, K. J.

AU - Kelsey, A. M.

AU - Birch, J. M.

AU - Evans, D. G R

PY - 1998

Y1 - 1998

N2 - We report a Li-Fraumeni syndrome family in which we have detected a splice acceptor mutation in intron 3 of TP53. The mutation affects one of the invariant residues at the splice acceptor site, as a result of which two aberrant transcripts are produced. A child with Wilms' tumour aged 3 years in this family was shown not to be a mutation carrier.

AB - We report a Li-Fraumeni syndrome family in which we have detected a splice acceptor mutation in intron 3 of TP53. The mutation affects one of the invariant residues at the splice acceptor site, as a result of which two aberrant transcripts are produced. A child with Wilms' tumour aged 3 years in this family was shown not to be a mutation carrier.

KW - Li-Fraumeni syndrome

KW - Splicing

KW - TP53

KW - Wilms' tumour

M3 - Article

C2 - 9792154

SN - 0007-0920

VL - 78

SP - 1081

EP - 1083

JO - British Journal of Cancer

JF - British Journal of Cancer

IS - 8

ER -

A novel TP53 splicing mutation in a Li-Fraumeni syndrome family: A patient with Wilms' tumour is not a mutation carrier

Abstract

Keywords

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