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Volumn 24, Issue 4, 2006, Pages 707-715

Optimal selection of individuals for BRCA mutation testing: A comparison of available methods

Author keywords

[No Author keywords available]

Indexed keywords

BRCA1 PROTEIN; BRCA2 PROTEIN; ESTROGEN RECEPTOR; PROGESTERONE RECEPTOR;

EID: 33644838384     PISSN: 0732183X     EISSN: None     Source Type: Journal    
DOI: 10.1200/JCO.2005.01.9737     Document Type: Article
Times cited : (105)

References (30)
  • 1
    • 0029955159 scopus 로고    scopus 로고
    • The genetic attributable risk of breast and ovarian cancer
    • Claus EB, Schildkraut JM, Thompson WD, et al: The genetic attributable risk of breast and ovarian cancer. Cancer 77:2318-2324, 1996
    • (1996) Cancer , vol.77 , pp. 2318-2324
    • Claus, E.B.1    Schildkraut, J.M.2    Thompson, W.D.3
  • 2
    • 0038744296 scopus 로고    scopus 로고
    • Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case series unselected for family history: A combined analysis of 22 studies
    • Antoniou A, Pharoah PDP, Narod S, et al: Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case series unselected for family history: A combined analysis of 22 studies. Am J Hum Genet 72:1117-1130, 2003
    • (2003) Am J Hum Genet , vol.72 , pp. 1117-1130
    • Antoniou, A.1    Pharoah, P.D.P.2    Narod, S.3
  • 3
    • 0141832213 scopus 로고    scopus 로고
    • Sensitivity of BRCA1/2 mutation testing in 466 breast/ ovarian cancer families
    • Evans DGR, Bulman M, Young K, et al: Sensitivity of BRCA1/2 mutation testing in 466 breast/ ovarian cancer families. J Med Genet 40:e107, 2003
    • (2003) J Med Genet , vol.40
    • Evans, D.G.R.1    Bulman, M.2    Young, K.3
  • 4
    • 0029864134 scopus 로고    scopus 로고
    • Statement of the American Society of Clinical Oncology: Genetic testing for cancer susceptibility
    • American Society of Clinical Oncology
    • American Society of Clinical Oncology: Statement of the American Society of Clinical Oncology: Genetic testing for cancer susceptibility. J Clin Oncol 14:1730-1736, 1996
    • (1996) J Clin Oncol , vol.14 , pp. 1730-1736
  • 5
    • 0034014737 scopus 로고    scopus 로고
    • Guidelines for a genetic risk based approach to advising women with a family history of breast cancer
    • Eccles DM, Evans DGR, Mackay J: Guidelines for a genetic risk based approach to advising women with a family history of breast cancer. J Med Genet 37:203-209, 2000
    • (2000) J Med Genet , vol.37 , pp. 203-209
    • Eccles, D.M.1    Evans, D.G.R.2    Mackay, J.3
  • 7
    • 0034748511 scopus 로고    scopus 로고
    • Prevalence of breast cancer predisposition gene mutations in Chinese women and guidelines for genetic testing
    • Tang NLS, Choy KW, Pang CP, et al: Prevalence of breast cancer predisposition gene mutations in Chinese women and guidelines for genetic testing. Clin Chim Acta 313:179-185, 2001
    • (2001) Clin Chim Acta , vol.313 , pp. 179-185
    • Tang, N.L.S.1    Choy, K.W.2    Pang, C.P.3
  • 8
    • 0033814256 scopus 로고    scopus 로고
    • A preliminary validation of a family history assessment form to select women at risk for breast or ovarian cancer for referral to a genetics center
    • Gilpin CA, Carson N, Hunter AG: A preliminary validation of a family history assessment form to select women at risk for breast or ovarian cancer for referral to a genetics center. Clin Genet 58:299-308, 2000
    • (2000) Clin Genet , vol.58 , pp. 299-308
    • Gilpin, C.A.1    Carson, N.2    Hunter, A.G.3
  • 9
    • 2942726188 scopus 로고    scopus 로고
    • A new scoring system for the chances of identifying a BRCA1/2 mutation outperforms existing models including BRCAPRO
    • Evans DGR, 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 41:474-480, 2004
    • (2004) J Med Genet , vol.41 , pp. 474-480
    • Evans, D.G.R.1    Eccles, D.M.2    Rahman, N.3
  • 10
    • 33644872552 scopus 로고    scopus 로고
    • An update on the Manchester Scoring System for BRCA1 and BRCA2 testing
    • Evans DGR, Lalloo F, Wallace A, et al: An update on the Manchester Scoring System for BRCA1 and BRCA2 testing. J Med Genet 42:e39, 2005
    • (2005) J Med Genet , vol.42
    • Evans, D.G.R.1    Lalloo, F.2    Wallace, A.3
  • 11
    • 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 20:1480-1490, 2002
    • (2002) J Clin Oncol , vol.20 , pp. 1480-1490
    • Frank, T.S.1    Deffenbaugh, A.M.2    Reid, J.E.3
  • 12
    • 0031832541 scopus 로고    scopus 로고
    • Sequence analysis of BRCA1 and BRCA2. Correlation of mutations with family history and ovarian cancer risk
    • Frank TS, Manley SA, Olopade OI, et al: Sequence analysis of BRCA1 and BRCA2. Correlation of mutations with family history and ovarian cancer risk. J Clin Oncol 16:2417-2425, 1998
    • (1998) J Clin Oncol , vol.16 , pp. 2417-2425
    • Frank, T.S.1    Manley, S.A.2    Olopade, O.I.3
  • 13
    • 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 336:1409-1415, 1997
    • (1997) N Engl J Med , vol.336 , pp. 1409-1415
    • Couch, F.J.1    DeShano, M.L.2    Blackwood, M.A.3
  • 14
    • 0031029633 scopus 로고    scopus 로고
    • Probability of carrying a mutation of breast-ovarian cancer gene BRCA1 based on family history
    • Berry DA, Parmigiani G, Sanchez J, et al: Probability of carrying a mutation of breast-ovarian cancer gene BRCA1 based on family history. J Natl Cancer Inst 89:227-238, 1997
    • (1997) J Natl Cancer Inst , vol.89 , pp. 227-238
    • Berry, D.A.1    Parmigiani, G.2    Sanchez, J.3
  • 15
    • 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 62: 145-158, 1998
    • (1998) Am J Hum Genet , vol.62 , pp. 145-158
    • Parmigiani, G.1    Berry, D.2    Aguilar, O.3
  • 16
    • 0036605379 scopus 로고    scopus 로고
    • BRCAPRO validation, sensitivity of genetic testing of BRCA1/BRCA2, and prevalence of other breast cancer susceptibility genes
    • Berry DA, Iversen ES Jr, Gudbjartsson DF, et al: BRCAPRO validation, sensitivity of genetic testing of BRCA1/BRCA2, and prevalence of other breast cancer susceptibility genes. J Clin Oncol 20:2701-2712, 2002
    • (2002) J Clin Oncol , vol.20 , pp. 2701-2712
    • Berry, D.A.1    Iversen Jr, E.S.2    Gudbjartsson, D.F.3
  • 17
    • 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 20:2310-2318, 2002
    • (2002) J Clin Oncol , vol.20 , pp. 2310-2318
    • Lakhani, S.R.1    Van De Vijver, M.J.2    Jacquemier, J.3
  • 18
    • 20244385395 scopus 로고    scopus 로고
    • Pre-test prediction models of BRCA1 or BRCA2 mutation in breast/ovarian families attending familial cancer clinics
    • De la Hoya M, Díez O, Pérez-Segura PJ, et al: Pre-test prediction models of BRCA1 or BRCA2 mutation in breast/ovarian families attending familial cancer clinics. J Med Genet 40:503-510, 2003
    • (2003) J Med Genet , vol.40 , pp. 503-510
    • De la Hoya, M.1    Díez, O.2    Pérez-Segura, P.J.3
  • 19
    • 0032764964 scopus 로고    scopus 로고
    • A comparison of BRCA1 mutation analysis by direct sequencing, SSCP and DHPLC
    • Gross E, Arnold N, Goette J, et al: A comparison of BRCA1 mutation analysis by direct sequencing, SSCP and DHPLC. Hum Genet 105:72-78, 1999
    • (1999) Hum Genet , vol.105 , pp. 72-78
    • Gross, E.1    Arnold, N.2    Goette, J.3
  • 20
    • 0033572622 scopus 로고    scopus 로고
    • Denaturing-high performance liquid chromatography detects reliably BRCA1 and BRCA2 mutations
    • Wagner T, Stoppa-Lyonnet D, Fleischmann E, et al: Denaturing-high performance liquid chromatography detects reliably BRCA1 and BRCA2 mutations. Genomics 62:369-376, 1999
    • (1999) Genomics , vol.62 , pp. 369-376
    • Wagner, T.1    Stoppa-Lyonnet, D.2    Fleischmann, E.3
  • 21
    • 0031845204 scopus 로고    scopus 로고
    • A complete protein truncation test for BRCA1 and BRCA2
    • Garvin AM: A complete protein truncation test for BRCA1 and BRCA2. Eur J Hum Genet 6:226-234, 1998
    • (1998) Eur J Hum Genet , vol.6 , pp. 226-234
    • Garvin, A.M.1
  • 22
    • 0023710206 scopus 로고
    • Comparing the areas under two or more correlated receiver operating characteristic curves: A nonparametric approach
    • DeLong ER, DeLong DM, Clark-Pearson DL: Comparing the areas under two or more correlated receiver operating characteristic curves: A nonparametric approach. Biometrics 44:837-845, 1988
    • (1988) Biometrics , vol.44 , pp. 837-845
    • DeLong, E.R.1    DeLong, D.M.2    Clark-Pearson, D.L.3
  • 23
    • 0037024450 scopus 로고    scopus 로고
    • Pretest prediction of BRCA1 or BRCA2 mutation by risk counselors and the computer model BRCAPRO
    • Euhus DM, Smith KC, Robinson L, et al: Pretest prediction of BRCA1 or BRCA2 mutation by risk counselors and the computer model BRCAPRO. J Natl Cancer Inst 94:844-851, 2002
    • (2002) J Natl Cancer Inst , vol.94 , pp. 844-851
    • Euhus, D.M.1    Smith, K.C.2    Robinson, L.3
  • 24
    • 0033281609 scopus 로고    scopus 로고
    • The pathology of familial breast cancer: Morphological aspects
    • Lakhani SR: The pathology of familial breast cancer: Morphological aspects. Breast Cancer Res 1:31-35, 1999
    • (1999) Breast Cancer Res , vol.1 , pp. 31-35
    • Lakhani, S.R.1
  • 25
    • 0342940785 scopus 로고    scopus 로고
    • Pathology of familial breast cancer: Differences between breast cancers in carriers of BRCA1 or BRCA2 mutations and sporadic cases
    • Breast Cancer Linkage Consortium
    • Breast Cancer Linkage Consortium: Pathology of familial breast cancer: Differences between breast cancers in carriers of BRCA1 or BRCA2 mutations and sporadic cases. Lancet 349:1505-1510, 1997
    • (1997) Lancet , vol.349 , pp. 1505-1510
  • 26
    • 0032486752 scopus 로고    scopus 로고
    • Multifactorial analysis of differences between sporadic breast cancers and cancers involving BRCA1 and BRCA2 mutations
    • Lakhani SR, Jacquemier J, Sloane JP, et al: Multifactorial analysis of differences between sporadic breast cancers and cancers involving BRCA1 and BRCA2 mutations. J Natl Cancer Inst 90:1138-1145, 1998
    • (1998) J Natl Cancer Inst , vol.90 , pp. 1138-1145
    • Lakhani, S.R.1    Jacquemier, J.2    Sloane, J.P.3
  • 27
    • 0032537361 scopus 로고    scopus 로고
    • Hormone status of in-situ cancer in BRCA1 and BRCA2 mutation carriers
    • Osin P, Crook T, Powles T, et al: Hormone status of in-situ cancer in BRCA1 and BRCA2 mutation carriers. Lancet 351:1487, 1998
    • (1998) Lancet , vol.351 , pp. 1487
    • Osin, P.1    Crook, T.2    Powles, T.3
  • 28
    • 0141429017 scopus 로고    scopus 로고
    • Germline BRCA1 mutations and a basal epithelial phenotype in breast cancer
    • Foulkes WD, Stefansson IM, Chappuis PO, et al: Germline BRCA1 mutations and a basal epithelial phenotype in breast cancer. J Natl Cancer Inst 95:1482-1485, 2003
    • (2003) J Natl Cancer Inst , vol.95 , pp. 1482-1485
    • Foulkes, W.D.1    Stefansson, I.M.2    Chappuis, P.O.3
  • 29
    • 0033029560 scopus 로고    scopus 로고
    • Novel indications for BRCA1 screening using individual clinical and morphological features
    • Eisinger F, Nogues C, Guinebretiere J-M, et al: Novel indications for BRCA1 screening using individual clinical and morphological features. Int J Cancer 84:263-267, 1999
    • (1999) Int J Cancer , vol.84 , pp. 263-267
    • Eisinger, F.1    Nogues, C.2    Guinebretiere, J.-M.3
  • 30
    • 0033987956 scopus 로고    scopus 로고
    • Comparison between genotype and phenotype identifies a high-risk population carrying BRCA1 mutations
    • Cortesi L, Turchetti D, Bertoni C, et al: Comparison between genotype and phenotype identifies a high-risk population carrying BRCA1 mutations. Genes Chromosomes Cancer 27:130-135, 2000
    • (2000) Genes Chromosomes Cancer , vol.27 , pp. 130-135
    • Cortesi, L.1    Turchetti, D.2    Bertoni, C.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.