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Volumn 135, Issue 10, 2014, Pages 2352-2361

Validation of the Manchester scoring system for predicting BRCA1/2 mutations in 9,390 families suspected of having hereditary breast and ovarian cancer

(16)  Kast, Karin a   Schmutzler, Rita K b   Rhiem, Kerstin b   Kiechle, Marion c   Fischer, Christine d   Niederacher, Dieter e   Arnold, Norbert f   Grimm, Tiemo g   Speiser, Dorothee h   Schlegelberger, Brigitte i   Varga, Dominic j   Horvath, Judit k   Beer, Marit l   Briest, Susanne m   Meindl, Alfons c   Engel, Christoph m  


Author keywords

BRCA1; BRCA2; Breast cancer; Manchester scoring system; Validation

Indexed keywords

BRCA1 PROTEIN; BRCA2 PROTEIN; ESTROGEN RECEPTOR; BRCA1 PROTEIN, HUMAN; BRCA2 PROTEIN, HUMAN;

EID: 84909969608     PISSN: 00207136     EISSN: 10970215     Source Type: Journal    
DOI: 10.1002/ijc.28875     Document Type: Article
Times cited : (31)

References (21)
  • 1
    • 7944237307 scopus 로고    scopus 로고
    • The BOADICEA model of genetic susceptibility to breast and ovarian cancer
    • Antoniou AC, Pharoah PP, Smith P, et al. The BOADICEA model of genetic susceptibility to breast and ovarian cancer. Br J Cancer 2004;91:1580-90.
    • (2004) Br J Cancer , vol.91 , pp. 1580-1590
    • Antoniou, A.C.1    Pharoah, P.P.2    Smith, P.3
  • 2
    • 0343918505 scopus 로고    scopus 로고
    • BRCA1 mutations in women attending clinics that evaluate the risk of breast cancer
    • Couch FJ, DeShano ML, Blackwood MA, et al. BRCA1 mutations in women attending clinics that evaluate the risk of breast cancer. N Engl J Med 1997;336:1409-15.
    • (1997) N Engl J Med , vol.336 , pp. 1409-1415
    • Couch, F.J.1    DeShano, M.L.2    Blackwood, M.A.3
  • 3
    • 0037087536 scopus 로고    scopus 로고
    • Clinical characteristics of individuals with germline mutations in BRCA1 and BRCA2: Analysis of 10,000 individuals
    • Frank TS, Deffenbaugh AM, Reid JE, et al. Clinical characteristics of individuals with germline mutations in BRCA1 and BRCA2: analysis of 10,000 individuals. J Clin Oncol 2002;20:1480-90.
    • (2002) J Clin Oncol , vol.20 , pp. 1480-1490
    • Frank, T.S.1    Deffenbaugh, A.M.2    Reid, J.E.3
  • 4
    • 0031917403 scopus 로고    scopus 로고
    • Determining carrier probabilities for breast cancer-susceptibility genes BRCA1 and BRCA2
    • Parmigiani G, Berry D, Aguilar O. Determining carrier probabilities for breast cancer-susceptibility genes BRCA1 and BRCA2. Am J Hum Genet 1998;62:145-58.
    • (1998) Am J Hum Genet , vol.62 , pp. 145-158
    • Parmigiani, G.1    Berry, D.2    Aguilar, O.3
  • 5
    • 1842680082 scopus 로고    scopus 로고
    • A breast cancer prediction model incorporating familial and personal risk factors
    • Tyrer J, Duffy SW, Cuzick J. A breast cancer prediction model incorporating familial and personal risk factors. Stat Med 2004;23:1111-30.
    • (2004) Stat Med , vol.23 , pp. 1111-1130
    • Tyrer, J.1    Duffy, S.W.2    Cuzick, J.3
  • 6
    • 2942726188 scopus 로고    scopus 로고
    • A new scoring system for the chances of identifying a BRCA1/2 mutation outperforms existing models including BRCAPRO
    • Evans DG, Eccles DM, Rahman N, et al. A new scoring system for the chances of identifying a BRCA1/2 mutation outperforms existing models including BRCAPRO. J Med Genet 2004;41:474-80.
    • (2004) J Med Genet , vol.41 , pp. 474-480
    • Evans, D.G.1    Eccles, D.M.2    Rahman, N.3
  • 7
    • 72749102465 scopus 로고    scopus 로고
    • Addition of pathology and biomarker information significantly improves the performance of the Manchester scoring system for BRCA1 and BRCA2 testing
    • Evans DG, Lalloo F, Cramer A, et al. Addition of pathology and biomarker information significantly improves the performance of the Manchester scoring system for BRCA1 and BRCA2 testing. J Med Genet 2009;46:811-7.
    • (2009) J Med Genet , vol.46 , pp. 811-817
    • Evans, D.G.1    Lalloo, F.2    Cramer, A.3
  • 8
    • 33644865525 scopus 로고    scopus 로고
    • Evaluation of two different models to predict BRCA1 and BRCA2 mutations in a cohort of Danish hereditary breast and/or ovarian cancer families
    • Gerdes AM, Cruger DG, Thomassen M, et al. Evaluation of two different models to predict BRCA1 and BRCA2 mutations in a cohort of Danish hereditary breast and/or ovarian cancer families. Clin Genet 2006;69:171-8.
    • (2006) Clin Genet , vol.69 , pp. 171-178
    • Gerdes, A.M.1    Cruger, D.G.2    Thomassen, M.3
  • 9
    • 33644838384 scopus 로고    scopus 로고
    • Optimal selection of individuals for BRCA mutation testing: A comparison of available methods
    • James PA, Doherty R, Harris M, et al. Optimal selection of individuals for BRCA mutation testing: a comparison of available methods. J Clin Oncol 2006;24:707-15.
    • (2006) J Clin Oncol , vol.24 , pp. 707-715
    • James, P.A.1    Doherty, R.2    Harris, M.3
  • 10
    • 33847259648 scopus 로고    scopus 로고
    • Evaluation of BRCA1 and BRCA2 mutation prevalence, risk prediction models and a multistep testing approach in French-Canadian families with high risk of breast and ovarian cancer
    • Simard J, Dumont M, Moisan AM, et al. Evaluation of BRCA1 and BRCA2 mutation prevalence, risk prediction models and a multistep testing approach in French-Canadian families with high risk of breast and ovarian cancer. J Med Genet 2007;44:107-21.
    • (2007) J Med Genet , vol.44 , pp. 107-121
    • Simard, J.1    Dumont, M.2    Moisan, A.M.3
  • 11
    • 65849293656 scopus 로고    scopus 로고
    • Evaluation of BRCA1 and BRCA2 mutations and riskprediction models in a typical Asian country (Malaysia) with a relatively low incidence of breast cancer
    • Thirthagiri E, Lee SY, Kang P, et al. Evaluation of BRCA1 and BRCA2 mutations and riskprediction models in a typical Asian country (Malaysia) with a relatively low incidence of breast cancer. Breast Cancer Res 2008;10:R59.
    • (2008) Breast Cancer Res , vol.10 , pp. R59
    • Thirthagiri, E.1    Lee, S.Y.2    Kang, P.3
  • 12
    • 47149086213 scopus 로고    scopus 로고
    • Predicting the likelihood of carrying a BRCA1 or BRCA2 mutation: Validation of BOADICEA, BRCAPRO, IBIS, Myriad and the Manchester scoring system using data from UK genetics clinics
    • Antoniou AC, Hardy R, Walker L, et al. Predicting the likelihood of carrying a BRCA1 or BRCA2 mutation: validation of BOADICEA, BRCAPRO, IBIS, Myriad and the Manchester scoring system using data from UK genetics clinics. J Med Genet 2008;45:425-31.
    • (2008) J Med Genet , vol.45 , pp. 425-431
    • Antoniou, A.C.1    Hardy, R.2    Walker, L.3
  • 13
    • 0036466858 scopus 로고    scopus 로고
    • Comprehensive analysis of 989 patients with breast or ovarian cancer provides BRCA1 and BRCA2 mutation profiles and frequencies for the German population
    • Meindl A. Comprehensive analysis of 989 patients with breast or ovarian cancer provides BRCA1 and BRCA2 mutation profiles and frequencies for the German population. Int J Cancer 2002;97:472-80.
    • (2002) Int J Cancer , vol.97 , pp. 472-480
    • Meindl, A.1
  • 14
    • 33644872552 scopus 로고    scopus 로고
    • Update on the Manchester Scoring System for BRCA1 and BRCA2 testing
    • Evans DG, Lalloo F, Wallace A, et al. Update on the Manchester Scoring System for BRCA1 and BRCA2 testing. J Med Genet 2005;42:e39.
    • (2005) J Med Genet , vol.42 , pp. e39
    • Evans, D.G.1    Lalloo, F.2    Wallace, A.3
  • 15
    • 85027933685 scopus 로고    scopus 로고
    • Evaluating the performance of the breast cancer genetic risk models BOADICEA, IBIS, BRCAPRO and Claus for predicting BRCA1/2 mutation carrier probabilities: A study based on 7352 families from the German Hereditary Breast and Ovarian Cancer Consortium
    • Fischer C, Kuchenbaecker K, Engel C, et al. Evaluating the performance of the breast cancer genetic risk models BOADICEA, IBIS, BRCAPRO and Claus for predicting BRCA1/2 mutation carrier probabilities: a study based on 7352 families from the German Hereditary Breast and Ovarian Cancer Consortium. J Med Genet 2013;50:360-367.
    • (2013) J Med Genet , vol.50 , pp. 360-367
    • Fischer, C.1    Kuchenbaecker, K.2    Engel, C.3
  • 16
    • 18344412542 scopus 로고    scopus 로고
    • BRCA1 and BRCA2 mutations in a population-based study of male breast cancer
    • Basham VM, Lipscombe JM, Ward JM, et al. BRCA1 and BRCA2 mutations in a population-based study of male breast cancer. Breast Cancer Res 2002;4:R2.
    • (2002) Breast Cancer Res , vol.4 , pp. R2
    • Basham, V.M.1    Lipscombe, J.M.2    Ward, J.M.3
  • 17
    • 34250006413 scopus 로고    scopus 로고
    • Genome-wide association study identifies novel breast cancer susceptibility loci
    • Easton DF, Pooley KA, Dunning AM et al. Genome-wide association study identifies novel breast cancer susceptibility loci. Nature 2007;447:1087-93.
    • (2007) Nature , vol.447 , pp. 1087-1093
    • Easton, D.F.1    Pooley, K.A.2    Dunning, A.M.3
  • 18
    • 17344365851 scopus 로고    scopus 로고
    • Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families
    • The Breast Cancer Linkage Consortium
    • Ford D, Easton DF, Stratton M, et al. Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium. Am J Hum Genet 1998;62:676-89.
    • (1998) Am J Hum Genet , vol.62 , pp. 676-689
    • Ford, D.1    Easton, D.F.2    Stratton, M.3
  • 19
    • 74949102413 scopus 로고    scopus 로고
    • Male breast cancer: A population-based comparison with female breast cancer
    • Anderson WF, Jatoi I, Tse J, et al. Male breast cancer: a population-based comparison with female breast cancer. J Clin Oncol 2010;28:232-9.
    • (2010) J Clin Oncol , vol.28 , pp. 232-239
    • Anderson, W.F.1    Jatoi, I.2    Tse, J.3
  • 20
    • 22344443194 scopus 로고    scopus 로고
    • Prediction of BRCA1 status in patients with breast cancer using estrogen receptor and basal phenotype
    • Lakhani SR, Reis-Filho JS, Fulford L, et al. Prediction of BRCA1 status in patients with breast cancer using estrogen receptor and basal phenotype. Clin Cancer Res 2005;11:5175-80.
    • (2005) Clin Cancer Res , vol.11 , pp. 5175-5180
    • Lakhani, S.R.1    Reis-Filho, J.S.2    Fulford, L.3
  • 21
    • 0036569877 scopus 로고    scopus 로고
    • The pathology of familial breast cancer: Predictive value of immunohistochemical markers estrogen receptor, progesterone receptor, HER-2, and p53 in patients with mutations in BRCA1 and BRCA2
    • Lakhani SR, Van De Vijver MJ, Jacquemier J, et al. The pathology of familial breast cancer: predictive value of immunohistochemical markers estrogen receptor, progesterone receptor, HER-2, and p53 in patients with mutations in BRCA1 and BRCA2. J Clin Oncol 2002;20:2310-8.
    • (2002) J Clin Oncol , vol.20 , pp. 2310-2318
    • Lakhani, S.R.1    Van De Vijver, M.J.2    Jacquemier, J.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.