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

来源：

JOURNAL OF CANCER RESEARCH AND CLINICAL ONCOLOGY | 1997年 / 123卷 / 01期

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

页码：69 / 70

页数：2

共 12 条

[11]

WAINDZOCH B, 1996, IN PRESS HUM MUTAT

[12] LOCALIZATION OF A BREAST-CANCER SUSCEPTIBILITY GENE, BRCA2, TO CHROMOSOME 13Q12-13 [J].

WOOSTER, R ;

NEUHAUSEN, SL ;

MANGION, J ;

QUIRK, Y ;

FORD, D ;

COLLINS, N ;

NGUYEN, K ;

SEAL, S ;

TRAN, T ;

AVERILL, D ;

FIELDS, P ;

MARSHALL, G ;

NAROD, S ;

LENOIR, GM ;

LYNCH, H ;

FEUNTEUN, J ;

DEVILEE, P ;

CORNELISSE, CJ ;

MENKO, FH ;

DALY, PA ;

ORMISTON, W ;

MCMANUS, R ;

PYE, C ;

LEWIS, CM ;

CANNONALBRIGHT, LA ;

PETO, J ;

PONDER, BAJ ;

SKOLNICK, MH ;

EASTON, DF ;

GOLDGAR, DE ;

STRATTON, MR .

SCIENCE, 1994, 265 (5181) :2088-2090

← 1 2 →