P53 GERMLINE MUTATIONS IN LI-FRAUMENI SYNDROME

被引：137

作者：

SANTIBANEZKOREF, MF

BIRCH, JM ^{[1
]}

HARTLEY, AL

JONES, PHM

CRAFT, AW

EDEN, T

CROWTHER, D

KELSEY, AM

HARRIS, M

机构：

[1] CHRISTIE HOSP & HOLT RADIUM INST,CANC RES CAMPAIGN,PEDIAT & FAMILIAL CANC RES GRP,MANCHESTER M20 9BX,LANCS,ENGLAND

[2] CHRISTIE HOSP & HOLT RADIUM INST,PATERSON INST,CANC RES CAMPAIGN,DEPT CANC GENET,MANCHESTER M20 9BX,LANCS,ENGLAND

[3] CHRISTIE HOSP & HOLT RADIUM INST,CANC RES CAMPAIGN,DEPT MED ONCOL,MANCHESTER M20 9BX,LANCS,ENGLAND

[4] CHRISTIE HOSP & HOLT RADIUM INST,DEPT PATHOL,MANCHESTER M20 9BX,LANCS,ENGLAND

[5] ROYAL MANCHESTER CHILDRENS HOSP,MANCHESTER M27 1HA,LANCS,ENGLAND

[6] ROYAL VICTORIA INFIRM,NEWCASTLE TYNE NE1 4LP,TYNE & WEAR,ENGLAND

[7] ROYAL HOSP SICK CHILDREN,EDINBURGH EH9 1LF,MIDLOTHIAN,SCOTLAND

来源：

LANCET | 1991年 / 338卷 / 8781期

关键词：

D O I：

10.1016/0140-6736(91)92303-J

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Germline mutations within a defined region of the p53 gene have recently been found in families with the Li-Fraumeni syndrome (LFS). In the present study this region of p53 was sequenced in affected individuals from 8 families with LFS. In only 2 of them were such mutations detected. Our findings suggest that the p53 mutation could be the primary lesion in some but not all families with LFS, and confirm that there is a "hot spot" for these mutations at the CpG dinucleotide moiety of codon 248. Assigning risks and counselling families on the basis of presence of p53 mutations should be approached with caution.

引用

页码：1490 / 1491

页数：2

共 11 条

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