AN EXTENDED LI-FRAUMENI KINDRED WITH GASTRIC-CARCINOMA AND A CODON-175 MUTATION IN TP53

被引：58

作者：

VARLEY, JM

MCGOWN, G

THORNCROFT, M

TRICKER, KJ

TEARE, MD

SANTIBANEZKOREF, MF

HOULSTON, RS

MARTIN, J

BIRCH, JM

EVANS, DGR

机构：

[1] PATERSON INST CANC RES, CRC, DEPT CANC GENET, MANCHESTER M20 9BX, LANCS, ENGLAND

[2] UNIV S MANCHESTER HOSP, CRC, PAEDIAT & FAMILIAL CANC RES GRP, MANCHESTER M20 9BX, LANCS, ENGLAND

[3] INST CANC RES, SUTTON SM2 5NG, SURREY, ENGLAND

[4] ROYAL LIVERPOOL CHILDRENS HOSP, ONCOL UNIT, LIVERPOOL L12 2AP, MERSEYSIDE, ENGLAND

来源：

JOURNAL OF MEDICAL GENETICS | 1995年 / 32卷 / 12期

关键词：

D O I：

10.1136/jmg.32.12.942

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We present an extended family with Li-Fraumeni syndrome characterised by gastric and breast carcinoma, glioma, sarcoma, and leukaemia. This family showed strong evidence of linkage to TP53, and three of four tumours analysed showed loss of the wild type allele. A codon 175 missense mutation was identified in exon 5 in all available affected subjects. Counselling, screening, and issues surrounding presymptomatic testing are discussed.

引用

页码：942 / 945

页数：4

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