Mutations of the BRCA1 and BRCA2 genes and the possibilities for predictive testing

被引:23
作者
Gayther, SA
Ponder, BAJ
机构
[1] CRC Hum. Cancer Genet. Res. Group, Box 238, Addenbrooke's Hospital, Hills Road
来源
MOLECULAR MEDICINE TODAY | 1997年 / 3卷 / 04期
关键词
D O I
10.1016/S1357-4310(97)01017-4
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
Two cancer susceptibility genes, BRCA1 on chromosome 17q12-21 and BRCA2 on chromosome 13q12-13, are thought to be responsible for similar to 80% of families containing multiple cases of early-onset female breast cancer. Germline mutations of BRCA1 are also associated with ovarian cancer and mutations of BRCA2 are associated with an increased risk of male breast cancer, ovarian cancer, prostate cancer and pancreatic cancer. The recent isolation of both genes should make possible the identification of the genetic defect that predisposes affected individuals to breast and ovarian cancer and might lead to the use of genetic information for predictive testing.
引用
收藏
页码:168 / 174
页数:7
相关论文
共 36 条
[21]  
Neuhausen SL, 1996, AM J HUM GENET, V58, P271
[22]   The carrier frequency of the BRCA2 6174delT mutation among Ashkenazi Jewish individuals is approximately 1% [J].
Oddoux, C ;
Struewing, JP ;
Clayton, CM ;
Neuhausen, S ;
Brody, LC ;
Kaback, M ;
Haas, B ;
Norton, L ;
Borgen, P ;
Jhanwar, S ;
Goldgar, D ;
Ostrer, H ;
Offit, K .
NATURE GENETICS, 1996, 14 (02) :188-190
[23]   RESTRICTION OF OCULAR FUNDUS LESIONS TO A SPECIFIC SUBGROUP OF APC MUTATIONS IN ADENOMATOUS POLYPOSIS-COLI PATIENTS [J].
OLSCHWANG, S ;
TIRET, A ;
LAURENTPUIG, P ;
MULERIS, M ;
PARC, R ;
THOMAS, G .
CELL, 1993, 75 (05) :959-968
[24]   Ovarian cancer risk in BRCA1 carriers is modified by the HRAS1 variable number of tandem repeat (VNTR) locus [J].
Phelan, CM ;
Rebbeck, TR ;
Weber, BL ;
Devilee, P ;
Ruttledge, MH ;
Lynch, HT ;
Lenoir, GM ;
Stratton, MR ;
Easton, DF ;
Ponder, BAJ ;
CannonAlbright, L ;
Larsson, C ;
Goldgar, DE ;
Narod, SA .
NATURE GENETICS, 1996, 12 (03) :309-311
[25]   Mutation analysis of the BRCA2 gene in 49 site-specific breast cancer families [J].
Phelan, CM ;
Lancaster, JM ;
Tonin, P ;
Gumbs, C ;
Cochran, C ;
Carter, R ;
Ghadirian, P ;
Perret, C ;
Moslehi, R ;
Dion, F ;
Faucher, MC ;
Dole, K ;
Karimi, S ;
Foulkes, W ;
Lounis, H ;
Warner, E ;
Goss, P ;
Anderson, D ;
Larsson, C ;
Narod, SA ;
Futreal, PA .
NATURE GENETICS, 1996, 13 (01) :120-122
[26]   Ashkenazi Jewish population frequencies for common mutations in BRCA1 and BRCA2 [J].
Roa, BB ;
Boyd, AA ;
Volcik, K ;
Richards, CS .
NATURE GENETICS, 1996, 14 (02) :185-187
[27]  
Serova OM, 1997, AM J HUM GENET, V60, P486
[28]   A COLLABORATIVE SURVEY OF 80 MUTATIONS IN THE BRCA1 BREAST-CANCER AND OVARIAN-CANCER SUSCEPTIBILITY GENE - IMPLICATIONS FOR PRESYMPTOMATIC TESTING AND SCREENING [J].
SHATTUCKEIDENS, D ;
MCCLURE, M ;
SIMARD, J ;
LABRIE, F ;
NAROD, S ;
COUCH, F ;
HOSKINS, K ;
WEBER, B ;
CASTILLA, L ;
ERDOS, M ;
BRODY, L ;
FRIEDMAN, L ;
OSTERMEYER, E ;
SZABO, C ;
KING, MC ;
JHANWAR, S ;
OFFIT, K ;
NORTON, L ;
GILEWSKI, T ;
LUBIN, M ;
OSBORNE, M ;
BLACK, D ;
BOYD, M ;
STEEL, M ;
INGLES, S ;
HAILE, R ;
LINDBLOM, A ;
OLSSON, H ;
BORG, A ;
BISHOP, DT ;
SOLOMON, E ;
RADICE, P ;
SPATTI, G ;
GAYTHER, S ;
PONDER, B ;
WARREN, W ;
STRATTON, M ;
LIU, QY ;
FUJIMURA, F ;
LEWIS, C ;
SKOLNICK, MH ;
GOLDGAR, DE .
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION, 1995, 273 (07) :535-541
[29]  
SMITH SA, 1993, AM J HUM GENET, V52, P767
[30]   ALLELES OF THE APC GENE - AN ATTENUATED FORM OF FAMILIAL POLYPOSIS [J].
SPIRIO, L ;
OLSCHWANG, S ;
GRODEN, J ;
ROBERTSON, M ;
SAMOWITZ, W ;
JOSLYN, G ;
GELBERT, L ;
THLIVERIS, A ;
CARLSON, M ;
OTTERUD, B ;
LYNCH, H ;
WATSON, P ;
LYNCH, P ;
LAURENTPUIG, P ;
BURT, R ;
HUGHES, JP ;
THOMAS, G ;
LEPPERT, M ;
WHITE, R .
CELL, 1993, 75 (05) :951-957