BRCA1 mutations and phenotype

被引:9
作者
Grade, K [1 ]
Hoffken, K [1 ]
Kath, R [1 ]
Nothnagel, A [1 ]
Bender, E [1 ]
Scherneck, S [1 ]
机构
[1] UNIV JENA,INNERE MED KLIN,D-07740 JENA,GERMANY
关键词
BRCA1; mutations; phenotype; CANCER SUSCEPTIBILITY GENE; OVARIAN-CANCER; BREAST-CANCER; FAMILIES;
D O I
10.1007/BF01212618
中图分类号
R73 [肿瘤学];
学科分类号
100214 ;
摘要
More than 100 mutations have been described for the breast-cancer-susceptibility gene BRCA1. The paper describes phenotypical aspects of three selected mutations located at the beginning, in the middle, and at the end of the gene. A remarkable decrease of the age of diagnosis of the mammary carcinoma is observed with increasing length of the putative gene product, combined with greater severity of the disease.
引用
收藏
页码:69 / 70
页数:2
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