BRCA1 mutation update and analysis

被引:9
作者
Grade, K
Jandrig, B
Scherneck, S
机构
[1] Max-Delbrück-Centre for Molecular Medicine
关键词
BRCA1; mutations; human hereditary breast cancer;
D O I
10.1007/BF01209036
中图分类号
R73 [肿瘤学];
学科分类号
100214 ;
摘要
The discovery of the BRCA1 gene involved in the development of human hereditary breast cancer led to extensive international efforts to identify the mutations leading to the disease. The new listing covers 127 mutations published in the indicated papers before 30 April 1996; 55% of the mutations are localized in exon 11, followed by exons 2 (5.5%), 5 and 16 (4.7% each).
引用
收藏
页码:702 / 706
页数:5
相关论文
共 23 条
[1]   MUTATIONS IN THE BRCA1 GENE IN FAMILIES WITH EARLY-ONSET BREAST AND OVARIAN-CANCER [J].
CASTILLA, LH ;
COUCH, FJ ;
ERDOS, MR ;
HOSKINS, KF ;
CALZONE, K ;
GARBER, JE ;
BOYD, J ;
LUBIN, MB ;
DESHANO, ML ;
BRODY, LC ;
COLLINS, FS ;
WEBER, BL .
NATURE GENETICS, 1994, 8 (04) :387-391
[2]   Germ-line BRCA1 mutations in Jewish and non-Jewish women with early-onset breast cancer [J].
FitzGerald, MG ;
MacDonald, DJ ;
Krainer, M ;
Hoover, I ;
ONeil, E ;
Unsal, H ;
SilvaArrieto, S ;
Finkelstein, DM ;
BeerRomero, P ;
Englert, C ;
Sgroi, DC ;
Smith, BL ;
Younger, JW ;
Garber, JE ;
Duda, RB ;
Mayzel, KA ;
Isselbacher, KJ ;
Friend, SH ;
Haber, DA .
NEW ENGLAND JOURNAL OF MEDICINE, 1996, 334 (03) :143-149
[3]   CONFIRMATION OF BRCA1 LAY ANALYSIS OF GERMLINE MUTATIONS LINKED TO BREAST AND OVARIAN-CANCER IN 10 FAMILIES [J].
FRIEDMAN, LS ;
OSTERMEYER, EA ;
SZABO, CI ;
DOWD, P ;
LYNCH, ED ;
ROWELL, SE ;
KING, MC .
NATURE GENETICS, 1994, 8 (04) :399-404
[4]   BREAST-CANCER INFORMATION ON THE WEB [J].
FRIEND, S ;
BORRESEN, AL ;
BRODY, L ;
CASEY, G ;
DEVILEE, P ;
GAYTHER, S ;
GOLDGAR, D ;
MURPHY, P ;
WEBER, BI ;
WISEMAN, R .
NATURE GENETICS, 1995, 11 (03) :238-239
[5]   BRCA1 MUTATIONS IN PRIMARY BREAST AND OVARIAN CARCINOMAS [J].
FUTREAL, PA ;
LIU, QY ;
SHATTUCKEIDENS, D ;
COCHRAN, C ;
HARSHMAN, K ;
TAVTIGIAN, S ;
BENNETT, LM ;
HAUGENSTRANO, A ;
SWENSEN, J ;
MIKI, Y ;
EDDINGTON, K ;
MCCLURE, M ;
FRYE, C ;
WEAVERFELDHAUS, J ;
DING, W ;
GHOLAMI, Z ;
SODERKVIST, P ;
TERRY, L ;
JHANWAR, S ;
BERCHUCK, A ;
IGLEHART, JD ;
MARKS, J ;
BALLINGER, DG ;
BARRETT, JC ;
SKOLNICK, MH ;
KAMB, A ;
WISEMAN, R .
SCIENCE, 1994, 266 (5182) :120-122
[6]   GERMLINE MUTATIONS OF THE BRCA1 GENE IN BREAST AND OVARIAN-CANCER FAMILIES PROVIDE EVIDENCE FOR A GENOTYPE-PHENOTYPE CORRELATION [J].
GAYTHER, SA ;
WARREN, W ;
MAZOYER, S ;
RUSSELL, PA ;
HARRINGTON, PA ;
CHIANO, M ;
SEAL, S ;
HAMOUDI, R ;
VANRENSBURG, EJ ;
DUNNING, AM ;
LOVE, R ;
EVANS, G ;
EASTON, D ;
CLAYTON, D ;
STRATTON, MR ;
PONDER, BAJ .
NATURE GENETICS, 1995, 11 (04) :428-433
[7]  
Gayther SA, 1996, AM J HUM GENET, V58, P451
[8]   RAPID DETECTION OF BRCA1 MUTATIONS BY THE PROTEIN TRUNCATION TEST [J].
HOGERVORST, FBL ;
CORNELIS, RS ;
BOUT, M ;
VANVLIET, M ;
OOSTERWIJK, JC ;
OLMER, R ;
BAKKER, B ;
KLIJN, JGM ;
VASEN, HFA ;
MEIJERSHEIJBOER, H ;
MENKO, FH ;
CORNELISSE, CJ ;
DENDUNNEN, JT ;
DEVILEE, P ;
VANOMMEN, GJB .
NATURE GENETICS, 1995, 10 (02) :208-212
[9]   A SOMATIC BRCA1 MUTATION IN AN OVARIAN TUMOR [J].
HOSKING, L ;
TROWSDALE, J ;
NICOLAI, H ;
SOLOMON, E ;
FOULKES, W ;
STAMP, G ;
SIGNER, E ;
JEFFREYS, A .
NATURE GENETICS, 1995, 9 (04) :343-344
[10]  
INOUE R, 1995, CANCER RES, V55, P3521