The predictive value of BRCA1 and BRCA2 mutation testing

被引:8
作者
Bansal, A
Critchfield, GC
Frank, TS
Reid, JE
Thomas, A
Deffenbaugh, AM
Neuhausen, SL
机构
[1] Univ Utah, Dept Med Informat, Salt Lake City, UT 84108 USA
[2] Myriad Genet Labs Inc, Salt Lake City, UT 84108 USA
来源
GENETIC TESTING | 2000年 / 4卷 / 01期
关键词
D O I
10.1089/109065700316462
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Genetic testing for mutations in BRCA1 and BRCA2, two genes predisposing to breast and ovarian cancers, is available to women with a relevant family history. The aim of this study was to estimate the positive and negative predictive value of clinical sequence analysis of these genes. A reference graph showing positive and negative predictive values over a range of pre-test risk was derived, taking into account the sensitivity and specificity of a full-sequence analysis test. High positive and negative predictive values were found for women with pre-test risk between 4% and 40%, a range of risk commonly seen in clinical testing. The predictive value of full sequence and single-site analysis of BRCA1 and BRCA2, therefore, compares favorably with other diagnostic medical tests. Our results provide a numerical estimate of the predictive value of BRCA testing, and as such, provide a valuable tool to healthcare providers and families as they interpret BRCA1 and BRCA2 test results.
引用
收藏
页码:45 / 48
页数:4
相关论文
共 21 条
  • [1] *AM CANC SOC, 1998, CANC FACTS FIG
  • [2] Probability of carrying a mutation of breast-ovarian cancer gene BRCA1 based on family history
    Berry, DA
    Parmigiani, G
    Sanchez, J
    Schildkraut, J
    Winer, E
    [J]. JOURNAL OF THE NATIONAL CANCER INSTITUTE, 1997, 89 (03) : 227 - 238
  • [3] Claus EB, 1996, CANCER, V77, P2318, DOI 10.1002/(SICI)1097-0142(19960601)77:11<2318::AID-CNCR21>3.0.CO
  • [4] 2-Z
  • [5] BRCA1 mutations in women attending clinics that evaluate the risk of breast cancer
    Couch, FJ
    DeShano, ML
    Blackwood, MA
    Calzone, K
    Stopfer, J
    Campeau, L
    Ganguly, A
    Rebbeck, T
    Weber, BL
    Jablon, L
    Cobleigh, MA
    Hoskins, K
    Garber, JE
    [J]. NEW ENGLAND JOURNAL OF MEDICINE, 1997, 336 (20) : 1409 - 1415
  • [6] FORD D, 1995, AM J HUM GENET, V57, P1457
  • [7] Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families
    Ford, D
    Easton, DF
    Stratton, M
    Narod, S
    Goldgar, D
    Devilee, P
    Bishop, DT
    Weber, B
    Lenoir, G
    Chang-Claude, J
    Sobol, H
    Teare, MD
    Struewing, J
    Arason, A
    Scherneck, S
    Peto, J
    Rebbeck, TR
    Tonin, P
    Neuhausen, S
    Barkardottir, R
    Eyfjord, J
    Lynch, H
    Ponder, BAJ
    Gayther, SA
    Birch, JM
    Lindblom, A
    Stoppa-Lyonnet, D
    Bignon, Y
    Borg, A
    Hamann, U
    Haites, N
    Scott, RJ
    Maugard, CM
    Vasen, H
    [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 1998, 62 (03) : 676 - 689
  • [8] RISKS OF CANCER IN BRCA1-MUTATION CARRIERS
    FORD, D
    EASTON, DF
    BISHOP, DT
    NAROD, SA
    GOLDGAR, DE
    HAITES, N
    MILNER, B
    ALLAN, L
    PONDER, BAJ
    PETO, J
    SMITH, S
    STRATTON, M
    LENOIR, GM
    FEUNTEUN, J
    LYNCH, H
    ARASON, A
    BARKARDOTTIR, R
    EGILSSON, V
    BLACK, DM
    KELSELL, D
    SPURR, N
    DEVILEE, P
    CORNELISSE, CJ
    VARSEN, H
    BIRCH, JM
    SKOLNICK, M
    SANTIBANEZKOREF, MS
    TEARE, D
    STEEL, M
    PORTER, D
    COHEN, BB
    CAROTHERS, A
    SMYTH, E
    WEBER, B
    NEWBOLD, B
    BOEHNKE, M
    COLLINS, FS
    CANNONALBRIGHT, LA
    GOLDGAR, D
    [J]. LANCET, 1994, 343 (8899) : 692 - 695
  • [9] Sequence analysis of BRCA1 and BRCA2:: Correlation of mutations with family history and ovarian cancer risk
    Frank, TS
    Manley, SA
    Olopade, OI
    Cummings, S
    Garber, JE
    Bernhardt, B
    Antman, K
    Russo, D
    Wood, ME
    Mullineau, L
    Isaacs, C
    Peshkin, B
    Buys, S
    Venne, V
    Rowley, PT
    Loader, S
    Offit, K
    Robson, M
    Hampel, H
    Brener, D
    Winer, EP
    Clark, S
    Weber, B
    Strong, LC
    Rieger, P
    McClure, M
    Ward, BE
    Shattuck-Eidens, D
    Oliphant, A
    Skolnick, MH
    Thomas, A
    [J]. JOURNAL OF CLINICAL ONCOLOGY, 1998, 16 (07) : 2417 - 2425
  • [10] Galen RS, 1975, NORMALITY PREDICTIVE