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Volumn 11, Issue 2, 2012, Pages 181-188

Validation of three BRCA1/2 mutation-carrier probability models Myriad, BRCAPRO and BOADICEA in a population-based series of 183 German families

Author keywords

BOADICEA; BRCA1; BRCA2; BRCAPRO; LGRs; Myriad

Indexed keywords

BRCA1 PROTEIN; BRCA2 PROTEIN;

EID: 84864668188     PISSN: 13899600     EISSN: 15737292     Source Type: Journal    
DOI: 10.1007/s10689-011-9498-y     Document Type: Article
Times cited : (13)

References (34)
  • 2
    • 84856009662 scopus 로고    scopus 로고
    • Declining incidence of breast cancer after decreased use of hormone-replacement therapy: Magnitude and time lags in different countries
    • Zbuk K, Anand SS (2012) Declining incidence of breast cancer after decreased use of hormone-replacement therapy: Magnitude and time lags in different countries. J Epidemiol Community Health 66(1):1-7
    • (2012) J Epidemiol Community Health , vol.66 , Issue.1 , pp. 1-7
    • Zbuk, K.1    Anand, S.S.2
  • 3
    • 77955903686 scopus 로고    scopus 로고
    • Disparities in breast cancer mortality trends between 30 european countries: Retrospective trend analysis of who mortality database
    • Autier P, Boniol M, La Vecchia C et al (2010) Disparities in breast cancer mortality trends between 30 European countries: Retrospective trend analysis of WHO mortality database. BMJ 341:c3620
    • (2010) BMJ , vol.341
    • Autier, P.1    Boniol, M.2    La Vecchia, C.3
  • 5
    • 17344365851 scopus 로고    scopus 로고
    • Genetic heterogeneity, penetrance analysis of the brca1, brca2 genes in breast cancer families. The breast cancer linkage consortium
    • Ford D, Easton DF, Stratton M et al (1998) Genetic heterogeneity, penetrance analysis of the BRCA1, BRCA2 genes in breast cancer families. The breast cancer linkage consortium. Am J Hum Genet 62(3):676-689
    • (1998) Am J Hum Genet , vol.62 , Issue.3 , pp. 676-689
    • Ford, D.1    Easton, D.F.2    Stratton, M.3
  • 6
    • 58049198217 scopus 로고    scopus 로고
    • Hereditary breast and ovarian cancers
    • Carroll JC, Cremin C, Allanson J et al (2008) Hereditary breast and ovarian cancers. Can Fam Physician 54(12):1691-1692
    • (2008) Can Fam Physician , vol.54 , Issue.12 , pp. 1691-1692
    • Carroll, J.C.1    Cremin, C.2    Allanson, J.3
  • 7
    • 77951720395 scopus 로고    scopus 로고
    • Germline mutations in breast, ovarian cancer pedigrees establish rad51c as a human cancer susceptibility gene
    • Meindl A, Hellebrand H, Wiek C et al (2010) Germline mutations in breast, ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene. Nat Genet 42(5):410-414
    • (2010) Nat Genet , vol.42 , Issue.5 , pp. 410-414
    • Meindl, A.1    Hellebrand, H.2    Wiek, C.3
  • 8
    • 78651370824 scopus 로고    scopus 로고
    • The occurrence of germline brca1, BRCA2 sequence alterations in Slovenian population
    • Stegel V, Krajc M, Zgajnar J et al (2011) The occurrence of germline BRCA1, BRCA2 sequence alterations in Slovenian population. BMC Med Genet 12:9
    • (2011) BMC Med Genet , vol.12 , pp. 9
    • Stegel, V.1    Krajc, M.2    Zgajnar, J.3
  • 9
    • 79961128939 scopus 로고    scopus 로고
    • Genetic testing for familial/hereditary breast cancer-comparison of guidelines and recommendations from the uk, france, the netherlands and germany
    • Gadzicki D, Evans DG, Harris H et al (2011) Genetic testing for familial/hereditary breast cancer-comparison of guidelines and recommendations from the UK, France, The Netherlands and Germany. J Community Genet 2:53-69
    • (2011) J Community Genet , vol.2 , pp. 53-69
    • Gadzicki, D.1    Evans, D.G.2    Harris, H.3
  • 10
    • 77952917993 scopus 로고    scopus 로고
    • Assessing women at high risk of breast cancer: A review of risk assessment models
    • Amir E, Freedman OC, Seruga B, Evans DG (2010) Assessing women at high risk of breast cancer: A review of risk assessment models. J Natl Cancer Inst 102(10):680-691
    • (2010) J Natl Cancer Inst , vol.102 , Issue.10 , pp. 680-691
    • Amir, E.1    Freedman, O.C.2    Seruga, B.3    Evans, D.G.4
  • 11
    • 33644783054 scopus 로고    scopus 로고
    • Hereditary breast and ovarian cancer-current clinical guidelines in germany
    • Kuschel B, Hauenstein E, Kiechle M, Meindl A (2006) Hereditary breast and ovarian cancer-current clinical guidelines in Germany. Breast Care 1:8-14
    • (2006) Breast Care , vol.1 , pp. 8-14
    • Kuschel, B.1    Hauenstein, E.2    Kiechle, M.3    Meindl, A.4
  • 12
    • 34047276278 scopus 로고    scopus 로고
    • Incorporating medical interventions into carrier probability estimation for genetic counseling
    • Katki H (2007) Incorporating medical interventions into carrier probability estimation for genetic counseling. BMC Med Genet 8:13
    • (2007) BMC Med Genet , vol.8 , pp. 13
    • Katki, H.1
  • 13
    • 66649102437 scopus 로고    scopus 로고
    • Performance of prediction models for brca mutation carriage in three racial/ ethnic groups: Findings from the northern california breast cancer family registry
    • Kurian AW, Gong GD, John EM et al (2009) Performance of prediction models for BRCA mutation carriage in three racial/ ethnic groups: Findings from the Northern California breast cancer family registry. Cancer Epidemiol Biomarkers Prev 18(4): 1084-1091
    • (2009) Cancer Epidemiol Biomarkers Prev , vol.18 , Issue.4 , pp. 1084-1091
    • Kurian, A.W.1    Gong, G.D.2    John, E.M.3
  • 15
    • 44249123856 scopus 로고    scopus 로고
    • Interdisziplinare S3-leitlinie fur die diagnostik, therapie und nachsorge des mammakarzinoms
    • Verlag GmbH
    • Kreienberg R, Kopp I, Albert U et al. (2008) Interdisziplinare S3-leitlinie fur die diagnostik, therapie und nachsorge des mammakarzinoms. Munich, W. Zuckschwerdt Verlag GmbH
    • (2008) Munich, W. Zuckschwerdt
    • Kreienberg, R.1    Kopp, I.2    Albert, U.3
  • 16
    • 84872218581 scopus 로고    scopus 로고
    • Predictive factors for BRCA1/BRCA2 mutations in women with ductal carcinoma in situ
    • Bayraktar S, Elsayegh N, Gutierrez Barrera AM et al. (2011) Predictive factors for BRCA1/BRCA2 mutations in women with ductal carcinoma in situ. Cancer
    • (2011) Cancer
    • Bayraktar, S.1    Elsayegh, N.2    Gutierrez Barrera, A.M.3
  • 17
    • 0037106375 scopus 로고    scopus 로고
    • Nonovarian pelvic cancers in brca1/2 mutation carriers and the brcapro statistical model
    • Cremin C, Wong N, Buzaglo K, Paradis AJ, Foulkes W (2002) Nonovarian pelvic cancers in BRCA1/2 mutation carriers and the BRCAPRO statistical model. J Clin Oncol 20(18):3936
    • (2002) J Clin Oncol , vol.20 , Issue.18 , pp. 3936
    • Cremin, C.1    Wong, N.2    Buzaglo, K.3    Paradis, A.J.4    Foulkes, W.5
  • 18
    • 0023710206 scopus 로고
    • Comparing the areas under two or more correlated receiver operating characteristic curves: A nonparametric approach
    • DeLong ER, DeLong DM, Clarke-Pearson DL (1988) Comparing the areas under two or more correlated receiver operating characteristic curves: A nonparametric approach. Biometrics 44(3): 837-845
    • (1988) Biometrics , vol.44 , Issue.3 , pp. 837-845
    • DeLong, E.R.1    DeLong, D.M.2    Clarke-Pearson, D.L.3
  • 19
    • 47149086213 scopus 로고    scopus 로고
    • Predicting the likelihood of carrying a brca1 or brca2 mutation: Validation of boadicea, brcapro, ibis, myriad, the manchester scoring system using data from uk genetics clinics
    • Antoniou AC, Hardy R, Walker L et al (2008) Predicting the likelihood of carrying a BRCA1 or BRCA2 mutation: validation of BOADICEA, BRCAPRO, IBIS, Myriad, the Manchester scoring system using data from UK genetics clinics. J Med Genet 45(7):425-431
    • (2008) J Med Genet , vol.45 , Issue.7 , pp. 425-431
    • Antoniou, A.C.1    Hardy, R.2    Walker, L.3
  • 20
    • 54249168062 scopus 로고    scopus 로고
    • Performance of brca1/2 mutation prediction models in asian americans
    • Kurian AW, Gong GD, Chun NM et al (2008) Performance of BRCA1/2 mutation prediction models in Asian Americans. J Clin Oncol 26(29):4752-4758
    • (2008) J Clin Oncol , vol.26 , Issue.29 , pp. 4752-4758
    • Kurian, A.W.1    Gong, G.D.2    Chun, N.M.3
  • 21
    • 35448980374 scopus 로고    scopus 로고
    • Predicting brca1 and brca2 gene mutation carriers: Comparison of lambda, brcapro, myriad ii, and modified couch models
    • Lindor NM, Lindor RA, Apicella C et al (2007) Predicting BRCA1 and BRCA2 gene mutation carriers: Comparison of LAMBDA, BRCAPRO, Myriad II, and modified Couch models. Fam Cancer 6(4):473-482
    • (2007) Fam Cancer , vol.6 , Issue.4 , pp. 473-482
    • Lindor, N.M.1    Lindor, R.A.2    Apicella, C.3
  • 23
    • 58949090245 scopus 로고    scopus 로고
    • Selecting a brca risk assessment model for use in a familial cancer clinic
    • Panchal SM, Ennis M, Canon S, Bordeleau LJ (2008) Selecting a BRCA risk assessment model for use in a familial cancer clinic. BMC Med Genet 9:116
    • (2008) BMC Med Genet , vol.9 , pp. 116
    • Panchal, S.M.1    Ennis, M.2    Canon, S.3    Bordeleau, L.J.4
  • 24
    • 34247152144 scopus 로고    scopus 로고
    • Evaluation of mathematical models for breast cancer risk assessment in routine clinical use
    • Fasching PA, Bani MR, Nestle-Kramling C et al (2007) Evaluation of mathematical models for breast cancer risk assessment in routine clinical use. Eur J Cancer Prev 16(3):216-224
    • (2007) Eur J Cancer Prev , vol.16 , Issue.3 , pp. 216-224
    • Fasching, P.A.1    Bani, M.R.2    Nestle-Kramling, C.3
  • 25
    • 34247125532 scopus 로고    scopus 로고
    • Risk and risk assessment for breast cancer: Molecular and clinical aspects
    • Beckmann MW, Bani MR, Fasching PA, Strick R, Lux MP (2007) Risk and risk assessment for breast cancer: Molecular and clinical aspects. Maturitas 57(1):56-60
    • (2007) Maturitas , vol.57 , Issue.1 , pp. 56-60
    • Beckmann, M.W.1    Bani, M.R.2    Fasching, P.A.3    Strick, R.4    Lux, M.P.5
  • 26
    • 84872217321 scopus 로고    scopus 로고
    • Prevalence rates of pathogenic mutations in the brca1 and brca2 genes in families with different disease histories: Results from the german consortium for hereditary breast and ovarian cancer
    • Kast K, Schmutzler RK, Distler W et al. (2009) Prevalence rates of pathogenic mutations in the BRCA1 and BRCA2 genes in families with different disease histories: Results from the German consortium for hereditary breast and ovarian cancer. Cancer Res 69(24):731S-S
    • (2009) Cancer Res , vol.69 , Issue.24
    • Kast, K.1    Schmutzler, R.K.2    Distler, W.3
  • 27
    • 0032980465 scopus 로고    scopus 로고
    • Frequency of brca1 mutation 5382insc in german breast cancer patients
    • Backe J, Hofferbert S, Skawran B et al (1999) Frequency of BRCA1 mutation 5382insC in German breast cancer patients. Gynecol Oncol 72(3):402-406
    • (1999) Gynecol Oncol , vol.72 , Issue.3 , pp. 402-406
    • Backe, J.1    Hofferbert, S.2    Skawran, B.3
  • 28
    • 0029794992 scopus 로고    scopus 로고
    • Ashkenazi jewish population frequencies for common mutations in brca1
    • Roa BB, Boyd AA, Volcik K, Richards CS (1996) Ashkenazi Jewish population frequencies for common mutations in BRCA1, BRCA2. Nat Genet 14(2):185-187
    • (1996) BRCA2. Nat Genet , vol.14 , Issue.2 , pp. 185-187
    • Roa, B.B.1    Boyd, A.A.2    Volcik, K.3    Richards, C.S.4
  • 29
    • 73449143225 scopus 로고    scopus 로고
    • Brca1, brca2 germline mutation analysis among indian women from south india: Identification of four novel mutations, high-frequency occurrence of 185delag mutation
    • Vaidyanathan K, Lakhotia S, Ravishankar HM, Tabassum U, Mukherjee G, Somasundaram K (2009) BRCA1, BRCA2 germline mutation analysis among Indian women from south India: identification of four novel mutations, high-frequency occurrence of 185delAG mutation. J Biosci 34(3):415-422
    • (2009) J Biosci , vol.34 , Issue.3 , pp. 415-422
    • Vaidyanathan, K.1    Lakhotia, S.2    Ravishankar, H.M.3    Tabassum, U.4    Mukherjee, G.5    Somasundaram, K.6
  • 30
    • 0037961254 scopus 로고    scopus 로고
    • Identification of germline 185delag brca1 mutations in non-jewish americans of spanish ancestry from the san luis valley
    • Mullineaux LG, Castellano TM, Shaw J et al (2003) Identification of germline 185delAG BRCA1 mutations in non-Jewish Americans of Spanish ancestry from the San Luis Valley, Colorado. Cancer 98(3):597-602
    • (2003) Colorado. Cancer , vol.98 , Issue.3 , pp. 597-602
    • Mullineaux, L.G.1    Castellano, T.M.2    Shaw, J.3
  • 31
    • 77953762408 scopus 로고    scopus 로고
    • The brcapro 5.0 model is a useful tool in genetic counseling, clinical management of male breast cancer cases
    • Zanna I, Rizzolo P, Sera F et al (2010) The BRCAPRO 5.0 model is a useful tool in genetic counseling, clinical management of male breast cancer cases. Eur J Hum Genet 18(7):856-858
    • (2010) Eur J Hum Genet , vol.18 , Issue.7 , pp. 856-858
    • Zanna, I.1    Rizzolo, P.2    Sera, F.3
  • 32
    • 78649331127 scopus 로고    scopus 로고
    • Large genomic rearrangements of the brca1, brca2 genes: Review of the literature, report of a novel brca1 mutation
    • Sluiter MD, van Rensburg EJ (2011) Large genomic rearrangements of the BRCA1, BRCA2 genes: Review of the literature, report of a novel BRCA1 mutation. Breast Cancer Res Treat 125(2):325-349
    • (2011) Breast Cancer Res Treat , vol.125 , Issue.2 , pp. 325-349
    • Sluiter, M.D.1    Van Rensburg, E.J.2
  • 33
    • 46749157576 scopus 로고    scopus 로고
    • Mlpascreening in the brca1 gene from 1, 506 german hereditary breast cancer cases: Novel deletions, frequent involvement of exon 17, occurrence in single early-onset cases
    • Engert S, Wappenschmidt B, Betz B et al (2008) MLPAscreening in the BRCA1 gene from 1, 506 German hereditary breast cancer cases: novel deletions, frequent involvement of exon 17, occurrence in single early-onset cases. Hum Mutat 29(7):948-958
    • (2008) Hum Mutat , vol.29 , Issue.7 , pp. 948-958
    • Engert, S.1    Wappenschmidt, B.2    Betz, B.3
  • 34
    • 35748932960 scopus 로고    scopus 로고
    • High prevalence of brca1 deletions in brcapro-positive patients with high carrier probability
    • vi86-vi92
    • Veschi S, Aceto G, Scioletti AP et al (2007) High prevalence of BRCA1 deletions in BRCAPRO-positive patients with high carrier probability. Ann Oncol 18(6):vi86-vi92
    • (2007) Ann Oncol , vol.18 , pp. 6
    • Veschi, S.1    Aceto, G.2    Scioletti, A.P.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.