IDENTIFICATION OF THE BREAST-CANCER SUSCEPTIBILITY GENE BRCA2

被引:2671
作者
WOOSTER, R
BIGNELL, G
LANCASTER, J
SWIFT, S
SEAL, S
MANGION, J
COLLINS, N
GREGORY, S
GUMBS, C
MICKLEM, G
BARFOOT, R
HAMOUDI, R
PATEL, S
RICE, C
BIGGS, P
HASHIM, Y
SMITH, A
CONNOR, F
ARASON, A
GUDMUNDSSON, J
FICENEC, D
KELSELL, D
FORD, D
TONIN, P
BISHOP, DT
SPURR, NK
PONDER, BAJ
EELES, R
PETO, J
DEVILEE, P
CORNELISSE, C
LYNCH, H
NAROD, S
LENOIR, G
EGILSSON, V
BARKADOTTIR, RB
EASTON, DF
BENTLEY, DR
FUTREAL, PA
ASHWORTH, A
STRATTON, MR
机构
[1] INST CANC RES,HADDOW LABS,EPIDEMIOL SECT,SUTTON SM2 5NG,SURREY,ENGLAND
[2] INST CANC RES,HADDOW LABS,CRC CTR CELL & MOLEC BIOL,SUTTON SM2 5NG,SURREY,ENGLAND
[3] INST CANC RES,CHESTER BEATTY LABS,LONDON SW3 6JB,ENGLAND
[4] NIEHS,MOLEC CARCINOGENESIS LAB,RES TRIANGLE PK,NC 27709
[5] SANGER CTR,HINXTON CB10 1RQ,CAMBS,ENGLAND
[6] DUKE UNIV,MED CTR,DEPT SURG,DURHAM,NC 27710
[7] DUKE UNIV,MED CTR,DEPT GENET,DURHAM,NC 27710
[8] DUKE UNIV,MED CTR,DIV GYNECOL ONCOL,DURHAM,NC 27710
[9] UNIV HOSP ICELAND,CELL BIOL LAB,IS-121 REYKJAVIK,ICELAND
[10] IMPERIAL CANC RES FUND,CLARE HALL LABS,POTTERS BAR EN6 3LD,HERTS,ENGLAND
[11] MCGILL UNIV,DEPT MED,DIV MED GENET,MONTREAL,PQ H3G 1A4,CANADA
[12] MCGILL UNIV,DEPT MED,DIV HUMAN GENET,MONTREAL,PQ H3G 1A4,CANADA
[13] IMPERIAL CANC RES FUND,GENET EPIDEMIOL LAB,LEEDS LS2 9LU,W YORKSHIRE,ENGLAND
[14] ADDENBROOKES HOSP,CRC HUMAN CANC GENET RES GRP,CAMBRIDGE CB2 2QQ,ENGLAND
[15] LEIDEN UNIV,DEPT HUMAN GENET & PATHOL,2300 RA LEIDEN,NETHERLANDS
[16] CREIGHTON UNIV,SCH MED,DEPT PREVENT MED & PUBL HLTH,OMAHA,NE 68178
[17] INT AGCY RES CANC,F-69372 LYON 08,FRANCE
[18] UNIV CAMBRIDGE,INST PUBL HLTH,DEPT COMMUNITY MED,CRC GENET EPIDEMIOL GRP,CAMBRIDGE CB2 2SR,ENGLAND
[19] WOMENS COLL HOSP,TORONTO,ON M5S 1B2,CANADA
[20] WASHINGTON UNIV,SCH MED,CTR GENOME SEQUENCING,ST LOUIS,MO
基金
英国惠康基金;
关键词
D O I
10.1038/378789a0
中图分类号
O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];
学科分类号
07 ; 0710 ; 09 ;
摘要
IN Western Europe and the United States approximately 1 in 12 women develop breast cancer. A small proportion of breast cancer cases, in particular those arising at a young age, are attributable to a highly penetrant, autosomal dominant predisposition to the disease. The breast cancer susceptibility gene, BRCA2, was recently localized to chromosome 13q12-q13. Here we report the identification of a gene in which we have detected six different germline mutations in breast cancer families that are likely to be due to BRCA2. Each mutation causes serious disruption to the open reading frame of the transcriptional unit. The results indicate that this is the BRCA2 gene.
引用
收藏
页码:789 / 792
页数:4
相关论文
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