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Volumn 115, Issue 10, 2009, Pages 2222-2233

BRCA1 and BRCA2 mutations in women of different ethnicities undergoing testing for hereditary breast-ovarian cancer

Author keywords

BRCA1; BRCA2; Ethnicity; Genetic testing; Race

Indexed keywords

ADULT; AFRICAN AMERICAN; ARTICLE; BREAST CANCER; BREAST CANCER GENE 1; BREAST CANCER GENE 2; CANCER RISK; CROSS-SECTIONAL STUDY; DNA SEQUENCE; ETHNIC DIFFERENCE; ETHNICITY; EUROPEAN AMERICAN; FEMALE; GENE MUTATION; GENETIC ANALYSIS; GENETIC VARIABILITY; HIGH RISK PATIENT; HUMAN; MAJOR CLINICAL STUDY; ONCOGENE; OVARY CANCER; PREVALENCE; PRIORITY JOURNAL; RISK ASSESSMENT; WESTERN EUROPE;

EID: 65649112508     PISSN: 0008543X     EISSN: 10970142     Source Type: Journal    
DOI: 10.1002/cncr.24200     Document Type: Article
Times cited : (321)

References (56)
  • 2
    • 0029955159 scopus 로고    scopus 로고
    • The genetic attributable risk of breast and ovarian cancer
    • Claus EB, Schildkraut JM, Thompson WD, Risch NJ. The genetic attributable risk of breast and ovarian cancer. Cancer. 1996;77:2318-2324.
    • (1996) Cancer , vol.77 , pp. 2318-2324
    • Claus, E.B.1    Schildkraut, J.M.2    Thompson, W.D.3    Risch, N.J.4
  • 3
    • 13744263782 scopus 로고    scopus 로고
    • Hereditary cancer predisposition syndromes
    • Garber JE, Offit K. Hereditary cancer predisposition syndromes. J Clin Oncol. 2005;23:276-292.
    • (2005) J Clin Oncol , vol.23 , pp. 276-292
    • Garber, J.E.1    Offit, K.2
  • 4
    • 1842614292 scopus 로고    scopus 로고
    • Bilateral prophylactic mastectomy reduces breast cancer risk in BRCA1 and BRCA2 mutation carriers: The PROSE Study Group
    • Rebbeck TR, Friebel T, Lynch HT, et al. Bilateral prophylactic mastectomy reduces breast cancer risk in BRCA1 and BRCA2 mutation carriers: the PROSE Study Group. J Clin Oncol. 2004;22:1055-1062.
    • (2004) J Clin Oncol , vol.22 , pp. 1055-1062
    • Rebbeck, T.R.1    Friebel, T.2    Lynch, H.T.3
  • 5
    • 8344221251 scopus 로고    scopus 로고
    • BRCA1 and BRCA2 mutations in a study of African American breast cancer patients
    • Pal T, Permuth-Wey J, Holtje T, Sutphen R. BRCA1 and BRCA2 mutations in a study of African American breast cancer patients. Cancer Epidemiol Biomarkers Prev. 2004;13(11 pt 1):1683-1686.
    • (2004) Cancer Epidemiol Biomarkers Prev , vol.13 , Issue.11 PART 1 , pp. 1683-1686
    • Pal, T.1    Permuth-Wey, J.2    Holtje, T.3    Sutphen, R.4
  • 6
    • 0035824069 scopus 로고    scopus 로고
    • Efficacy of bilateral prophylactic mastectomy in BRCA1 and BRCA2 mutation carriers
    • Hartmann LC, Sellers TA, Schaid DJ, et al. Efficacy of bilateral prophylactic mastectomy in BRCA1 and BRCA2 mutation carriers. J Natl Cancer Inst. 2003;93:1586-1587.
    • (2003) J Natl Cancer Inst , vol.93 , pp. 1586-1587
    • Hartmann, L.C.1    Sellers, T.A.2    Schaid, D.J.3
  • 7
    • 29144522408 scopus 로고    scopus 로고
    • Breast cancer risk following bilateral prophylactic oophorectomy in BRCA1 and BRCA2 mutation carriers: An international case-control study
    • Eisen A, Lubinski J, Klijn J, et al. Breast cancer risk following bilateral prophylactic oophorectomy in BRCA1 and BRCA2 mutation carriers: an international case-control study. J Clin Oncol. 2005;23:7491-7496.
    • (2005) J Clin Oncol , vol.23 , pp. 7491-7496
    • Eisen, A.1    Lubinski, J.2    Klijn, J.3
  • 8
    • 0037162110 scopus 로고    scopus 로고
    • Prophylactic oophorectomy in BRCA1 and BRCA2 mutation carriers
    • Rebbeck TR, Lynch HT, Neuhausen SL, et al. Prophylactic oophorectomy in BRCA1 and BRCA2 mutation carriers. N Engl J Med. 2002;346:616-622.
    • (2002) N Engl J Med , vol.346 , pp. 616-622
    • Rebbeck, T.R.1    Lynch, H.T.2    Neuhausen, S.L.3
  • 11
    • 0028330276 scopus 로고
    • Risks of cancer in BRCA1-mutation carriers
    • Breast Cancer Linkage Consortium
    • Ford D, Easton DF, Bishop DT, Narod SA, Goldgar DE. Risks of cancer in BRCA1-mutation carriers. Breast Cancer Linkage Consortium. Lancet. 1994;343:692-695.
    • (1994) Lancet , vol.343 , pp. 692-695
    • Ford, D.1    Easton, D.F.2    Bishop, D.T.3    Narod, S.A.4    Goldgar, D.E.5
  • 15
    • 0031025322 scopus 로고    scopus 로고
    • Prevalence and contribution of BRCA1 mutations in breast cancer and ovarian cancer: Results from 3 U.S. population-based case-control studies of ovarian cancer
    • Whittemore AS, Gong G, Itnyre J. Prevalence and contribution of BRCA1 mutations in breast cancer and ovarian cancer: results from 3 U.S. population-based case-control studies of ovarian cancer. Am J Hum Genet. 1997;60:496-504.
    • (1997) Am J Hum Genet , vol.60 , pp. 496-504
    • Whittemore, A.S.1    Gong, G.2    Itnyre, J.3
  • 16
    • 0030902227 scopus 로고    scopus 로고
    • Population genetics of BRCA1 and BRCA2
    • Szabo CI, King MC. Population genetics of BRCA1 and BRCA2. Am J Hum Genet. 1997;60:1013-1020.
    • (1997) Am J Hum Genet , vol.60 , pp. 1013-1020
    • Szabo, C.I.1    King, M.C.2
  • 17
    • 0036450901 scopus 로고    scopus 로고
    • Hereditary breast and ovarian cancer in Asia: Genetic epidemiology of BRCA1 and BRCA2
    • Leide A, Narod SA. Hereditary breast and ovarian cancer in Asia: genetic epidemiology of BRCA1 and BRCA2. Hum Mutat. 2002;20:413-424.
    • (2002) Hum Mutat , vol.20 , pp. 413-424
    • Leide, A.1    Narod, S.A.2
  • 19
    • 37549036689 scopus 로고    scopus 로고
    • Prevalence of pathogenic BRCA1 mutation carriers in 5 racial/ethnic groups
    • John E, Miron A, Gong G, et al. Prevalence of pathogenic BRCA1 mutation carriers in 5 racial/ethnic groups. JAMA. 2007;298:2869-2876.
    • (2007) JAMA , vol.298 , pp. 2869-2876
    • John, E.1    Miron, A.2    Gong, G.3
  • 20
    • 32944456493 scopus 로고    scopus 로고
    • Racial differences in the incidence of BRCA1 and BRCA2 mutations in a cohort of early onset breast cancer patients: African American compared to white women
    • Haffty BG, Silber A, Matloff E, Chung J, Lannin D. Racial differences in the incidence of BRCA1 and BRCA2 mutations in a cohort of early onset breast cancer patients: African American compared to white women. J Med Genet. 2006;43:133-137.
    • (2006) J Med Genet , vol.43 , pp. 133-137
    • Haffty, B.G.1    Silber, A.2    Matloff, E.3    Chung, J.4    Lannin, D.5
  • 21
    • 0142178215 scopus 로고    scopus 로고
    • Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2
    • New York Breast Cancer Study Group
    • King MC, Marks JH, Mandell JB; New York Breast Cancer Study Group. Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2. Science. 2003;302:643-646.
    • (2003) Science , vol.302 , pp. 643-646
    • King, M.C.1    Marks, J.H.2    Mandell, J.B.3
  • 23
    • 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. 2005;294:1925-1933.
    • (2005) JAMA , vol.294 , pp. 1925-1933
    • Nanda, R.1    Schumm, L.P.2    Cummings, S.3
  • 24
    • 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;20:1480-1490.
    • (2002) J Clin Oncol , vol.20 , pp. 1480-1490
    • Frank, T.S.1    Deffenbaugh, A.M.2    Reid, J.E.3
  • 26
    • 0027295745 scopus 로고
    • A suggested nomenclature for designating mutations
    • Beaudet AL, Tsui LCA. suggested nomenclature for designating mutations. Hum Mutat. 1993;2:245-248. (Pubitemid 23231498)
    • (1993) Human Mutation , vol.2 , Issue.4 , pp. 245-248
    • Beaudet, A.L.1    Tsui, L.-C.2
  • 27
    • 4544336084 scopus 로고    scopus 로고
    • Integrated evaluation of DNA sequence variants of unknown clinical significance: Application to BRCA1 and BRCA2
    • Goldgar DE, Easton DF, Deffenbaugh AM, et al. Integrated evaluation of DNA sequence variants of unknown clinical significance: application to BRCA1 and BRCA2. Am J Hum Genet. 2004;75:535-544.
    • (2004) Am J Hum Genet , vol.75 , pp. 535-544
    • Goldgar, D.E.1    Easton, D.F.2    Deffenbaugh, A.M.3
  • 28
    • 27544483543 scopus 로고    scopus 로고
    • Application of embryonic lethal or other obvious phenotypes to characterize the clinical significance of genetic variants found in trans with known deleterious mutations
    • DOI 10.1158/0008-5472.CAN-05-1241
    • Judkins T, Hendrickson BC, Deffenbaugh AM, et al. Application of embryonic lethal or other obvious phenotypes to characterize the clinical significance of genetic variants found in trans with known deleterious mutations. Cancer Res. 2005;65:10096-10103. (Pubitemid 41541492)
    • (2005) Cancer Research , vol.65 , Issue.21 , pp. 10096-10103
    • Judkins, T.1    Hendrickson, B.C.2    Deffenbaugh, A.M.3    Eliason, K.4    Leclair, B.5    Norton, M.J.6    Ward, B.E.7    Pruss, D.8    Scholl, T.9
  • 30
    • 65649109545 scopus 로고    scopus 로고
    • US Census Bureau. Available at: Accessed September 1, 2008
    • US Census Bureau. Overview of Race and Hispanic Ethnicity: 2000. Available at: http://www.census.gov/prod/2001pubs/c2kbr01-1.pdf Accessed September 1, 2008.
    • Overview of Race and Hispanic Ethnicity: 2000
  • 33
    • 33744938412 scopus 로고    scopus 로고
    • Trends in breast cancer by race and ethnicity: Update 2006
    • Smigal C, Jemal A, Ward E, et al. Trends in breast cancer by race and ethnicity: update 2006. CA Cancer J Clin. 2006;56:168-183.
    • (2006) CA Cancer J Clin , vol.56 , pp. 168-183
    • Smigal, C.1    Jemal, A.2    Ward, E.3
  • 34
    • 20144372095 scopus 로고    scopus 로고
    • Ethnicity and breast cancer: Factors influencing differences in incidence and outcome
    • Chlebowski RT, Chen Z, Anderson GL, et al. Ethnicity and breast cancer: factors influencing differences in incidence and outcome. J Natl Cancer Inst. 2005;97:439-448.
    • (2005) J Natl Cancer Inst , vol.97 , pp. 439-448
    • Chlebowski, R.T.1    Chen, Z.2    Anderson, G.L.3
  • 35
    • 42249088293 scopus 로고    scopus 로고
    • Diet patterns and breast cancer risk in Hispanic and non-Hispanic white women: The Four-Corners Breast Cancer Study
    • Murtaugh MA, Sweeney C, Giuliano AR, et al. Diet patterns and breast cancer risk in Hispanic and non-Hispanic white women: the Four-Corners Breast Cancer Study. Am J Clin Nutr. 2008;87:978-984.
    • (2008) Am J Clin Nutr , vol.87 , pp. 978-984
    • Murtaugh, M.A.1    Sweeney, C.2    Giuliano, A.R.3
  • 36
    • 0034162538 scopus 로고    scopus 로고
    • Diet and breast carcinoma in multiethnic populations
    • Wu AH. Diet and breast carcinoma in multiethnic populations. Cancer. 2000;88(5 suppl):1239-1244.
    • (2000) Cancer , vol.88 , Issue.5 SUPPL. , pp. 1239-1244
    • Wu, A.H.1
  • 37
    • 33847124379 scopus 로고    scopus 로고
    • Body size, weight change, fat distribution, and breast cancer risk in Hispanic and non-Hispanic white women
    • Slattery ML, Sweeney C, Edwards S, et al. Body size, weight change, fat distribution, and breast cancer risk in Hispanic and non-Hispanic white women. Breast Cancer Res Treat. 2007;102:85-101.
    • (2007) Breast Cancer Res Treat , vol.102 , pp. 85-101
    • Slattery, M.L.1    Sweeney, C.2    Edwards, S.3
  • 39
    • 0344198158 scopus 로고    scopus 로고
    • Lifetime physical activity and breast cancer risk in a multi-ethnic population: The San Francisco Bay Area Breast Cancer Study
    • John EM, Horn-Ross PL, Koo J. Lifetime physical activity and breast cancer risk in a multi-ethnic population: the San Francisco Bay Area Breast Cancer Study. Cancer Epidemiol Biomarkers Prev. 2003;12:1143-1152.
    • (2003) Cancer Epidemiol Biomarkers Prev , vol.12 , pp. 1143-1152
    • John, E.M.1    Horn-Ross, P.L.2    Koo, J.3
  • 40
    • 33750510871 scopus 로고    scopus 로고
    • Racial/ethnic differences in post-menopausal endogenous hormones: The multi-ethnic cohort study
    • Setiawan VW, Haiman CA, Stanczyk FZ, et al. Racial/ethnic differences in post-menopausal endogenous hormones: the multi-ethnic cohort study. Cancer Epidemiol Biomarkers Prev. 2006;15:1849-1855.
    • (2006) Cancer Epidemiol Biomarkers Prev , vol.15 , pp. 1849-1855
    • Setiawan, V.W.1    Haiman, C.A.2    Stanczyk, F.Z.3
  • 42
    • 40349116245 scopus 로고    scopus 로고
    • Recent breast cancer trends among Asian/Pacific Islander, Hispanic, and African-American women in the US: Changes by tumor subtype
    • serial online
    • Hausauer AK, Keegan THM, Chang ET, Clarke CA. Recent breast cancer trends among Asian/Pacific Islander, Hispanic, and African-American women in the US: changes by tumor subtype [serial online]. Breast Cancer Res. 2007;9:R90.
    • (2007) Breast Cancer Res , vol.9
    • Hausauer, A.K.1    Keegan, T.H.M.2    Chang, E.T.3    Clarke, C.A.4
  • 43
    • 37248999372 scopus 로고    scopus 로고
    • Triple negative tumours: A critical review
    • Reis-Filho JS, Tutt AN. Triple negative tumours: a critical review. Histopathology. 2008;52:108-118.
    • (2008) Histopathology , vol.52 , pp. 108-118
    • Reis-Filho, J.S.1    Tutt, A.N.2
  • 44
    • 34547860028 scopus 로고    scopus 로고
    • Differences in breast carcinoma characteristics in newly diagnosed African-American and Caucasian patients: A single-institution compilation compared to the National Cancer Institute's Surveillance, Epidemiology, and End Results database
    • Morris GJ, Naidu S, Topham AK, et al. Differences in breast carcinoma characteristics in newly diagnosed African-American and Caucasian patients: a single-institution compilation compared to the National Cancer Institute's Surveillance, Epidemiology, and End Results database. Cancer. 2007;110:876-884.
    • (2007) Cancer , vol.110 , pp. 876-884
    • Morris, G.J.1    Naidu, S.2    Topham, A.K.3
  • 45
    • 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, Stopfer J, Putt M. Racial differences in the use of BRCA1/2 testing among women with a family history of breast or ovarian cancer. JAMA. 2005;293:1729-1736.
    • (2005) JAMA , vol.293 , pp. 1729-1736
    • Armstrong, K.1    Micco, E.2    Carney, A.3    Stopfer, J.4    Putt, M.5
  • 46
    • 16844384696 scopus 로고    scopus 로고
    • Social disparities in cancer: Lessons from a multi-disciplinary workshop
    • Weissman JS, Schneider EC. Social disparities in cancer: lessons from a multi-disciplinary workshop. Cancer Causes Control. 2005;16:71-74.
    • (2005) Cancer Causes Control , vol.16 , pp. 71-74
    • Weissman, J.S.1    Schneider, E.C.2
  • 47
    • 65649130617 scopus 로고    scopus 로고
    • National Health Interview Survey 2000
    • National Center for Health Statistics. Pastor PN, Makuc DM, Reuben C, Hia H, eds. DHSS Publication No. 1232-1. Hyattsville, Md: Department of Health and Human Services, Centers for Disease Control and Prevention, National Center for Health Statistics
    • National Center for Health Statistics. National Health Interview Survey 2000. In: Pastor PN, Makuc DM, Reuben C, Hia H, eds. Chartbook on Trends of Health of Americans, Health, United States, 2000. DHSS Publication No. 1232-1. Hyattsville, Md: Department of Health and Human Services, Centers for Disease Control and Prevention, National Center for Health Statistics; 2002;97-99.
    • (2002) Chartbook on Trends of Health of Americans, Health, United States, 2000 , pp. 97-99
  • 48
    • 3142721920 scopus 로고    scopus 로고
    • Awareness of genetic testing for increased cancer risk in the Year 2000 National Health Interview Survey
    • DOI 10.1159/000078162
    • Wideroff L, Vadaparampil ST, Breen N, et al. Awareness of genetic testing for increased cancer risk in the year 2000 National Health Interview Survey. Commun Genet. 2003;6:147-156. (Pubitemid 38916113)
    • (2003) Community Genetics , vol.6 , Issue.3 , pp. 147-156
    • Wideroff, L.1    Vadaparampil, S.T.2    Breen, N.3    Croyle, R.T.4    Freedman, A.N.5
  • 49
    • 0033860662 scopus 로고    scopus 로고
    • Genetic testing of African Americans for susceptibility to inherited cancers
    • Matthews AK, Cummings S, Thompson S, et al. Genetic testing of African Americans for susceptibility to inherited cancers. J Psychosoc Oncol. 2000;18:1-13.
    • (2000) J Psychosoc Oncol , vol.18 , pp. 1-13
    • Matthews, A.K.1    Cummings, S.2    Thompson, S.3
  • 50
    • 2442650599 scopus 로고    scopus 로고
    • The association between race and attitudes about predictive genetic testing
    • Peters N, Rose A, Armstrong K. The association between race and attitudes about predictive genetic testing. Cancer Epidemiol Biomarkers Prev. 2004;13:361-365.
    • (2004) Cancer Epidemiol Biomarkers Prev , vol.13 , pp. 361-365
    • Peters, N.1    Rose, A.2    Armstrong, K.3
  • 52
    • 19144362921 scopus 로고    scopus 로고
    • Haplotype and phenotype analysis of 6 recurrent BRCA1 mutations in 61 families: Results of an international study
    • Neuhausen SL, Mazoyer S, Friedman L, et al. Haplotype and phenotype analysis of 6 recurrent BRCA1 mutations in 61 families: results of an international study. Am J Hum Genet. 1996;58:271-280.
    • (1996) Am J Hum Genet , vol.58 , pp. 271-280
    • Neuhausen, S.L.1    Mazoyer, S.2    Friedman, L.3
  • 54
    • 17044371510 scopus 로고    scopus 로고
    • Single nucleotide polymorphisms in clinical genetic testing: The characterization of the clinical significance of genetic variants and their application in clinical research for BRCA1
    • Judkins T, Hendrickson BC, Deffenbaugh AM, Scholl T. Single nucleotide polymorphisms in clinical genetic testing: the characterization of the clinical significance of genetic variants and their application in clinical research for BRCA1. Mutat Res. 2005;573:168-179.
    • (2005) Mutat Res , vol.573 , pp. 168-179
    • Judkins, T.1    Hendrickson, B.C.2    Deffenbaugh, A.M.3    Scholl, T.4
  • 55
    • 33749357455 scopus 로고    scopus 로고
    • Evaluation of models to predict BRCA germline mutations
    • kConFab Investigators
    • Kang HH, Williams R, Leary J; kConFab Investigators, et al. Evaluation of models to predict BRCA germline mutations. Br J Cancer. 2006;95:914-920.
    • (2006) Br J Cancer , vol.95 , pp. 914-920
    • Kang, H.H.1    Williams, R.2    Leary, J.3
  • 56
    • 65649090406 scopus 로고    scopus 로고
    • Molecular genetic testing for large genomic deletion and duplication mutations in the BRCA1 and BRCA2 genes for hereditary breast and ovarian cancer
    • [abstract]. 2007 ASCO Annual Meeting Proceedings. Abstract 10513
    • Wenstrup R, Judkins T, Eliason K, et al. Molecular genetic testing for large genomic deletion and duplication mutations in the BRCA1 and BRCA2 genes for hereditary breast and ovarian cancer [abstract]. 2007 ASCO Annual Meeting Proceedings. J Clin Oncol. 2007;25(18S). Abstract 10513.
    • (2007) J Clin Oncol. , vol.25 , Issue.18 S
    • Wenstrup, R.1    Judkins, T.2    Eliason, K.3


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