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

被引：16

作者：

Varley, JM

McGown, G

Thorncroft, M

White, GRM

Tricker, KJ

Kelsey, AM

Birch, JM

Evans, DGR

机构：

[1] Paterson Inst Canc Res, CRC, Dept Canc Genet, Manchester M20 9BX, Lancs, England

[2] Royal Manchester Childrens Hosp, Dept Histopathol, Manchester M27 1HA, Lancs, England

[3] Royal Manchester Childrens Hosp, CRC, Paediat & Familial Canc Res Grp, Manchester M27 1HA, Lancs, England

[4] St Marys Hosp, Dept Med Genet, Manchester M13 0JH, Lancs, England

来源：

BRITISH JOURNAL OF CANCER | 1998年 / 78卷 / 08期

关键词：

TP53; Li-Fraumeni syndrome; splicing; Wilms' tumour;

D O I：

10.1038/bjc.1998.631

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

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.

引用

页码：1081 / 1083

页数：3

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