메뉴 건너뛰기




Volumn 25, Issue 29, 2007, Pages 4635-4641

BRCA1 and BRCA2 genetic testing in hispanic patients: Mutation prevalence and evaluation of the BRCAPRO risk assessment model

Author keywords

[No Author keywords available]

Indexed keywords

BRCA1 PROTEIN; BRCA2 PROTEIN;

EID: 35648963187     PISSN: 0732183X     EISSN: None     Source Type: Journal    
DOI: 10.1200/JCO.2006.10.4703     Document Type: Article
Times cited : (57)

References (43)
  • 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
    • 0034653903 scopus 로고    scopus 로고
    • Frequency of BRCA1/BRCA2 mutations in a population-based sample of young breast carcinoma cases
    • Malone KE, Daling JR, Neal C, et al: Frequency of BRCA1/BRCA2 mutations in a population-based sample of young breast carcinoma cases. Cancer 88:1393-1402, 2000
    • (2000) Cancer , vol.88 , pp. 1393-1402
    • Malone, K.E.1    Daling, J.R.2    Neal, C.3
  • 3
    • 29144509766 scopus 로고    scopus 로고
    • BRCA1 and BRCA2 mutations account for a large proportion of ovarian carcinoma cases
    • Pal T, Permuth-Wey J, Betts JA, et al: BRCA1 and BRCA2 mutations account for a large proportion of ovarian carcinoma cases. Cancer 104:2807-2816, 2005
    • (2005) Cancer , vol.104 , pp. 2807-2816
    • Pal, T.1    Permuth-Wey, J.2    Betts, J.A.3
  • 4
    • 0033516265 scopus 로고    scopus 로고
    • Prevalence of BRCA1 and BRCA2 gene mutations in patients with early-onset breast cancer
    • Peto J, Collins N, Barfoot R, et al: Prevalence of BRCA1 and BRCA2 gene mutations in patients with early-onset breast cancer. J Natl Cancer Inst 91:943-949, 1999
    • (1999) J Natl Cancer Inst , vol.91 , pp. 943-949
    • Peto, J.1    Collins, N.2    Barfoot, R.3
  • 5
    • 0035098503 scopus 로고    scopus 로고
    • Prevalence and penetrance of germline BRCA1 and BRCA2 mutations in a population series of 649 women with ovarian cancer
    • Risch HA, McLaughlin JR, Cole DE, et al: Prevalence and penetrance of germline BRCA1 and BRCA2 mutations in a population series of 649 women with ovarian cancer. Am J Hum Genet 68:700-710, 2001
    • (2001) Am J Hum Genet , vol.68 , pp. 700-710
    • Risch, H.A.1    McLaughlin, J.R.2    Cole, D.E.3
  • 6
    • 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 62:676-689, 1998
    • (1998) Am J Hum Genet , vol.62 , pp. 676-689
    • Ford, D.1    Easton, D.F.2    Stratton, M.3
  • 7
    • 0028885339 scopus 로고
    • An evaluation of genetic heterogeneity in 145 breast-ovarian cancer families: Breast Cancer Linkage Consortium
    • Narod SA, Ford D, Devilee P, et al: An evaluation of genetic heterogeneity in 145 breast-ovarian cancer families: Breast Cancer Linkage Consortium. Am J Hum Genet 56:254-264, 1995
    • (1995) Am J Hum Genet , vol.56 , pp. 254-264
    • Narod, S.A.1    Ford, D.2    Devilee, P.3
  • 8
    • 33644895048 scopus 로고    scopus 로고
    • Characterization of BRCA1 and BRCA2 mutations in a large United States sample
    • Chen S, Iversen ES, Friebel T, et al: Characterization of BRCA1 and BRCA2 mutations in a large United States sample. J Clin Oncol 24:863-871, 2006
    • (2006) J Clin Oncol , vol.24 , pp. 863-871
    • Chen, S.1    Iversen, E.S.2    Friebel, T.3
  • 9
    • 0142178215 scopus 로고    scopus 로고
    • Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2
    • King MC, Marks JH, Mandell JB: Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2. Science 302:643-646, 2003
    • (2003) Science , vol.302 , pp. 643-646
    • King, M.C.1    Marks, J.H.2    Mandell, J.B.3
  • 10
    • 10744232814 scopus 로고    scopus 로고
    • Analysis of BRCA1 and BRCA2 genes in Spanish breast/ovarian cancer patients: A high proportion of mutations unique to Spain and evidence of founder effects
    • Díez O, Osorio A, Duran M, et al: Analysis of BRCA1 and BRCA2 genes in Spanish breast/ovarian cancer patients: A high proportion of mutations unique to Spain and evidence of founder effects. Hum Mutat 22:301-312, 2003
    • (2003) Hum Mutat , vol.22 , pp. 301-312
    • Díez, O.1    Osorio, A.2    Duran, M.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
    • 26844544418 scopus 로고    scopus 로고
    • Genetic testing in an ethnically diverse cohort of high-risk women: A comparative analysis of BRCA1 and BRCA2 mutations in American families of European and African ancestry
    • Nanda R, Schumm LP, Cummings S, et al: Genetic testing in an ethnically diverse cohort of high-risk women: A comparative analysis of BRCA1 and BRCA2 mutations in American families of European and African ancestry. JAMA 294:1925-1933, 2005
    • (2005) JAMA , vol.294 , pp. 1925-1933
    • Nanda, R.1    Schumm, L.P.2    Cummings, S.3
  • 13
    • 0030852505 scopus 로고    scopus 로고
    • BRCA1 sequence analysis in women at high risk for susceptibility mutations: Risk factor analysis and implications for genetic testing
    • Shattuck-Eidens D, Oliphant A, McClure M, et al: BRCA1 sequence analysis in women at high risk for susceptibility mutations: Risk factor analysis and implications for genetic testing. JAMA 278:1242-1250, 1997
    • (1997) JAMA , vol.278 , pp. 1242-1250
    • Shattuck-Eidens, D.1    Oliphant, A.2    McClure, M.3
  • 14
    • 0034747772 scopus 로고    scopus 로고
    • Haplotype analysis in Icelandic and Finnish BRCA2 999del5 breast cancer families
    • Barkardottir RB, Sarantaus L, Arason A, et al: Haplotype analysis in Icelandic and Finnish BRCA2 999del5 breast cancer families. Eur J Hum Genet 9:773-779, 2001
    • (2001) Eur J Hum Genet , vol.9 , pp. 773-779
    • Barkardottir, R.B.1    Sarantaus, L.2    Arason, A.3
  • 15
    • 0035434628 scopus 로고    scopus 로고
    • Evidence of a founder mutation of BRCA1 in a highly homogeneous population from southern Italy with breast/ovarian cancer
    • Baudi F, Quaresima B, Grandinetti C, et al: Evidence of a founder mutation of BRCA1 in a highly homogeneous population from southern Italy with breast/ovarian cancer. Hum Mutat 18:163-164, 2001
    • (2001) Hum Mutat , vol.18 , pp. 163-164
    • Baudi, F.1    Quaresima, B.2    Grandinetti, C.3
  • 16
    • 0036466857 scopus 로고    scopus 로고
    • Association between BRCA1 and BRCA2 mutations and cancer phenotype in Spanish breast/ovarian cancer families: Implications for genetic testing
    • de la Hoya M, Osorio A, Godino J, et al: Association between BRCA1 and BRCA2 mutations and cancer phenotype in Spanish breast/ovarian cancer families: Implications for genetic testing. Int J Cancer 97:466-471, 2002
    • (2002) Int J Cancer , vol.97 , pp. 466-471
    • de la Hoya, M.1    Osorio, A.2    Godino, J.3
  • 17
    • 0032421792 scopus 로고    scopus 로고
    • Identification of the 185delAG BRCA1 mutation in a Spanish Gypsy population
    • Díez O, Domenech M, Alonso MC, et al: Identification of the 185delAG BRCA1 mutation in a Spanish Gypsy population. Hum Genet 103:707-708, 1998
    • (1998) Hum Genet , vol.103 , pp. 707-708
    • Díez, O.1    Domenech, M.2    Alonso, M.C.3
  • 18
    • 0036450901 scopus 로고    scopus 로고
    • Hereditary breast and ovarian cancer in Asia: Genetic epidemiology of BRCA1 and BRCA2
    • Liede A, Narod SA: Hereditary breast and ovarian cancer in Asia: Genetic epidemiology of BRCA1 and BRCA2. Hum Mutat 20:413-424, 2002
    • (2002) Hum Mutat , vol.20 , pp. 413-424
    • Liede, A.1    Narod, S.A.2
  • 19
    • 33644877727 scopus 로고    scopus 로고
    • High proportion of recurrent germline mutations in the BRCA1 gene in breast and ovarian cancer patients from the Prague area
    • Pohlreich P, Zikan M, Stribrna J, et al: High proportion of recurrent germline mutations in the BRCA1 gene in breast and ovarian cancer patients from the Prague area. Breast Cancer Res 7:R728-R736, 2005
    • (2005) Breast Cancer Res , vol.7
    • Pohlreich, P.1    Zikan, M.2    Stribrna, J.3
  • 20
    • 18544397294 scopus 로고    scopus 로고
    • BRCA1 and BRCA2 mutation analysis of early-onset and familial breast cancer cases in Mexico
    • Ruiz-Flores P, Sinilnikova OM, Badzioch M, et al: BRCA1 and BRCA2 mutation analysis of early-onset and familial breast cancer cases in Mexico. Hum Mutat 20:474-475, 2002
    • (2002) Hum Mutat , vol.20 , pp. 474-475
    • Ruiz-Flores, P.1    Sinilnikova, O.M.2    Badzioch, M.3
  • 21
    • 0035318296 scopus 로고    scopus 로고
    • BRCA1 and BRCA2 mutations among Finnish ovarian carcinoma families
    • Sarantaus L, Auranen A, Nevanlinna H: BRCA1 and BRCA2 mutations among Finnish ovarian carcinoma families. Int J Oncol 18:831-835, 2001
    • (2001) Int J Oncol , vol.18 , pp. 831-835
    • Sarantaus, L.1    Auranen, A.2    Nevanlinna, H.3
  • 22
    • 1442355325 scopus 로고    scopus 로고
    • BRCA1 c. 2845insA is a founder mutation in Singaporean Malay women with early onset breast/ovarian cancer
    • Sng JH, Ali AB, Lee SC, et al: BRCA1 c. 2845insA is a founder mutation in Singaporean Malay women with early onset breast/ovarian cancer. Ann Acad Med Singapore 32:S53-S55, 2003
    • (2003) Ann Acad Med Singapore , vol.32
    • Sng, J.H.1    Ali, A.B.2    Lee, S.C.3
  • 23
    • 84871470156 scopus 로고    scopus 로고
    • 2004 National Healthcare Disparities Report, in DHHS (ed): Agency for Healthcare Research and Quality. Washington, DC, Department of Health and Human Services, 2004
    • 2004 National Healthcare Disparities Report, in DHHS (ed): Agency for Healthcare Research and Quality. Washington, DC, Department of Health and Human Services, 2004
  • 24
    • 0042821770 scopus 로고    scopus 로고
    • Early use of clinical BRCA1/2 testing: Associations with race and breast cancer risk
    • Armstrong K, Weber B, Stopfer J, et al: Early use of clinical BRCA1/2 testing: Associations with race and breast cancer risk. Am J Med Genet A 117:154-160, 2003
    • (2003) Am J Med Genet A , vol.117 , pp. 154-160
    • Armstrong, K.1    Weber, B.2    Stopfer, J.3
  • 25
    • 16444381731 scopus 로고    scopus 로고
    • Racial differences in the use of BRCA1/2 testing among women with a family history of breast or ovarian cancer
    • Armstrong K, Micco E, Carney A, et al: Racial differences in the use of BRCA1/2 testing among women with a family history of breast or ovarian cancer. JAMA 293:1729-1736, 2005
    • (2005) JAMA , vol.293 , pp. 1729-1736
    • Armstrong, K.1    Micco, E.2    Carney, A.3
  • 26
    • 21444448776 scopus 로고    scopus 로고
    • BRCA1 variants in a family study of African-American and Latina women
    • McKean-Cowdin R, Spencer Feigelson H, Xia LY, et al: BRCA1 variants in a family study of African-American and Latina women. Hum Genet 116:497-506, 2005
    • (2005) Hum Genet , vol.116 , pp. 497-506
    • McKean-Cowdin, R.1    Spencer Feigelson, H.2    Xia, L.Y.3
  • 27
    • 0037961254 scopus 로고    scopus 로고
    • Identification of germline 185delAG BRCA1 mutations in non-Jewish Americans of Spanish ancestry from the San Luis Valley, Colorado
    • Mullineaux LG, Castellano TM, Shaw J, et al: Identification of germline 185delAG BRCA1 mutations in non-Jewish Americans of Spanish ancestry from the San Luis Valley, Colorado. Cancer 98:597-602, 2003
    • (2003) Cancer , vol.98 , pp. 597-602
    • Mullineaux, L.G.1    Castellano, T.M.2    Shaw, J.3
  • 28
    • 22244470367 scopus 로고    scopus 로고
    • Prevalence of BRCA mutations and founder effect in high-risk Hispanic families
    • Weitzel JN, Lagos V, Blazer KR, et al: Prevalence of BRCA mutations and founder effect in high-risk Hispanic families. Cancer Epidemiol Biomarkers Prev 14:1666-1671, 2005
    • (2005) Cancer Epidemiol Biomarkers Prev , vol.14 , pp. 1666-1671
    • Weitzel, J.N.1    Lagos, V.2    Blazer, K.R.3
  • 29
    • 33644844013 scopus 로고    scopus 로고
    • Assessing BRCA carrier probabilities in extended families
    • Barcenas CH, Hosain GM, Arun B, et al: Assessing BRCA carrier probabilities in extended families. J Clin Oncol 24:354-360, 2006
    • (2006) J Clin Oncol , vol.24 , pp. 354-360
    • Barcenas, C.H.1    Hosain, G.M.2    Arun, B.3
  • 30
    • 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
  • 31
    • 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
  • 32
    • 84871468849 scopus 로고    scopus 로고
    • Reference deleted
    • Reference deleted.
  • 33
    • 27544491192 scopus 로고    scopus 로고
    • ROCR: Visualizing classifier performance in R
    • Sing T, Sander O, Beerenwinkel N, et al: ROCR: Visualizing classifier performance in R. Bioinformatics 21:3940-3941, 2005
    • (2005) Bioinformatics , vol.21 , pp. 3940-3941
    • Sing, T.1    Sander, O.2    Beerenwinkel, N.3
  • 34
    • 0034164650 scopus 로고    scopus 로고
    • Frequency of germ-line BRCA1 mutations among Spanish families from a Mediterranean area
    • Blesa JR, Garcia JA, Ochoa E: Frequency of germ-line BRCA1 mutations among Spanish families from a Mediterranean area. Hum Mutat 15:381-382, 2000
    • (2000) Hum Mutat , vol.15 , pp. 381-382
    • Blesa, J.R.1    Garcia, J.A.2    Ochoa, E.3
  • 35
    • 0031690559 scopus 로고    scopus 로고
    • Molecular analysis of the BRCA2 gene in 16 breast/ovarian cancer Spanish families
    • Osorio A, Robledo M, Martinez B, et al: Molecular analysis of the BRCA2 gene in 16 breast/ovarian cancer Spanish families. Clin Genet 54:142-147, 1998
    • (1998) Clin Genet , vol.54 , pp. 142-147
    • Osorio, A.1    Robledo, M.2    Martinez, B.3
  • 36
    • 0029083814 scopus 로고
    • The carrier frequency of the BRCA1 185delAG mutation is approximately 1 percent in Ashkenazi Jewish individuals
    • Struewing JP, Abeliovich D, Peretz T, et al: The carrier frequency of the BRCA1 185delAG mutation is approximately 1 percent in Ashkenazi Jewish individuals. Nat Genet 11:198-200, 1995
    • (1995) Nat Genet , vol.11 , pp. 198-200
    • Struewing, J.P.1    Abeliovich, D.2    Peretz, T.3
  • 37
    • 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
  • 38
    • 0034788375 scopus 로고    scopus 로고
    • Understanding mathematical models for breast cancer risk assessment and counseling
    • Euhus DM: Understanding mathematical models for breast cancer risk assessment and counseling. Breast J 7:224-232, 2001
    • (2001) Breast J , vol.7 , pp. 224-232
    • Euhus, D.M.1
  • 39
    • 33646537461 scopus 로고    scopus 로고
    • Disparities in genetic testing: Thinking outside the BRCA box
    • Hall MJ, Olopade OI: Disparities in genetic testing: Thinking outside the BRCA box. J Clin Oncol 24:2197-2203, 2006
    • (2006) J Clin Oncol , vol.24 , pp. 2197-2203
    • Hall, M.J.1    Olopade, O.I.2
  • 40
    • 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
  • 41
    • 0038687100 scopus 로고    scopus 로고
    • A simple model of breast carcinoma growth may provide explanations for observations of apparently complex phenomena
    • Kopans DB, Rafferty E, Georgian-Smith D, et al: A simple model of breast carcinoma growth may provide explanations for observations of apparently complex phenomena. Cancer 97:2951-2959, 2003
    • (2003) Cancer , vol.97 , pp. 2951-2959
    • Kopans, D.B.1    Rafferty, E.2    Georgian-Smith, D.3
  • 42
    • 84871467490 scopus 로고    scopus 로고
    • Validity of models for prediction of BRCA1 and BRCA2 mutations
    • in press
    • Parmigiani G, Chen S, Iversen E, et al: Validity of models for prediction of BRCA1 and BRCA2 mutations. Ann Intern Med (in press)
    • Ann Intern Med
    • Parmigiani, G.1    Chen, S.2    Iversen, E.3
  • 43
    • 0035815923 scopus 로고    scopus 로고
    • Annual report to the nation on the status of cancer (1973 through 1998), featuring cancers with recent increasing trends
    • Howe HL, Wingo PA, Thun MJ, et al: Annual report to the nation on the status of cancer (1973 through 1998), featuring cancers with recent increasing trends. J Natl Cancer Inst 93:824-842, 2001
    • (2001) J Natl Cancer Inst , vol.93 , pp. 824-842
    • Howe, H.L.1    Wingo, P.A.2    Thun, M.J.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.