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Volumn 4, Issue 1, 2015, Pages

Addressing health disparities in Hispanic breast cancer: Accurate and inexpensive sequencing of BRCA1 and BRCA2

(23)  Dean, Michael a   Boland, Joseph b   Yeager, Meredith b   Im, Kate M a   Garland, Lisa a   Rodriguez Herrera, Maria a   Perez, Mylen a   Mitchell, Jason b   Roberson, David b   Jones, Kristine b   Lee, Hyo Jung b   Eggebeen, Rebecca b   Sawitzke, Julie c   Bass, Sara b   Zhang, Xijun b   Robles, Vivian d   Hollis, Celia e   Barajas, Claudia e   Rath, Edna f   Arentz, Candy g   more..


Author keywords

Breast cancer; Genetic testing; Health disparity; Hispanic populations; Underserved populations

Indexed keywords

BRCA1 PROTEIN; BRCA2 PROTEIN; DNA; EPIDERMAL GROWTH FACTOR RECEPTOR 2; ESTROGEN RECEPTOR; PROGESTERONE RECEPTOR;

EID: 84979529739     PISSN: None     EISSN: 2047217X     Source Type: Journal    
DOI: 10.1186/s13742-015-0088-z     Document Type: Article
Times cited : (40)

References (62)
  • 1
    • 63549096634 scopus 로고    scopus 로고
    • Hereditary ovarian carcinoma: heterogeneity, molecular genetics, pathology, and management
    • Lynch HT, Casey MJ, Snyder CL, Bewtra C, Lynch JF, Butts M, et al. Hereditary ovarian carcinoma: heterogeneity, molecular genetics, pathology, and management. Mol Oncol. 2009;3:97-137
    • (2009) Mol Oncol , vol.3 , pp. 97-137
    • Lynch, H.T.1    Casey, M.J.2    Snyder, C.L.3    Bewtra, C.4    Lynch, J.F.5    Butts, M.6
  • 2
    • 36448996703 scopus 로고    scopus 로고
    • Breast cancer risk associated with BRCA1 and BRCA2 in diverse populations
    • Fackenthal JD, Olopade OI. Breast cancer risk associated with BRCA1 and BRCA2 in diverse populations. Nat Rev. 2007;7:937-48
    • (2007) Nat Rev , vol.7 , pp. 937-948
    • Fackenthal, J.D.1    Olopade, O.I.2
  • 3
    • 61349148781 scopus 로고    scopus 로고
    • Associations of high-grade prostate cancer with BRCA1 and BRCA2 founder mutations
    • Agalliu I, Gern R, Leanza S, Burk RD. Associations of high-grade prostate cancer with BRCA1 and BRCA2 founder mutations. Clin Cancer Res. 2009;15:1112-20
    • (2009) Clin Cancer Res , vol.15 , pp. 1112-1120
    • Agalliu, I.1    Gern, R.2    Leanza, S.3    Burk, R.D.4
  • 4
    • 25144445294 scopus 로고    scopus 로고
    • BRCA1 and BRCA2 pathways and the risk of cancers other than breast or ovarian
    • Friedenson B. BRCA1 and BRCA2 pathways and the risk of cancers other than breast or ovarian. MedGenMed. 2005;7:60
    • (2005) MedGenMed , vol.7 , pp. 60
    • Friedenson, B.1
  • 5
    • 10944255106 scopus 로고    scopus 로고
    • Risk of cancer at sites other than the breast in Swedish families eligible for BRCA1 or BRCA2 mutation testing
    • Lorenzo Bermejo J, Hemminki K. Risk of cancer at sites other than the breast in Swedish families eligible for BRCA1 or BRCA2 mutation testing. Ann Oncol. 2004;15:1834-41
    • (2004) Ann Oncol , vol.15 , pp. 1834-1841
    • Lorenzo Bermejo, J.1    Hemminki, K.2
  • 6
    • 84864360055 scopus 로고    scopus 로고
    • Risk of cancer other than breast or ovarian in individuals with BRCA1 and BRCA2 mutations
    • Moran A, O'Hara C, Khan S, Shack L, Woodward E, Maher ER, et al. Risk of cancer other than breast or ovarian in individuals with BRCA1 and BRCA2 mutations. Fam Cancer. 2012;11:235-42
    • (2012) Fam Cancer , vol.11 , pp. 235-242
    • Moran, A.1    O'Hara, C.2    Khan, S.3    Shack, L.4    Woodward, E.5    Maher, E.R.6
  • 8
    • 44849130662 scopus 로고    scopus 로고
    • The prevalence of BRCA1 and BRCA2 germline mutations in high-risk breast cancer patients of Chinese Han nationality: two recurrent mutations were identified
    • Li WF, Hu Z, Rao NY, Song CG, Zhang B, Cao MZ, et al. The prevalence of BRCA1 and BRCA2 germline mutations in high-risk breast cancer patients of Chinese Han nationality: two recurrent mutations were identified. Breast Cancer Res Treat. 2008;110:99-109
    • (2008) Breast Cancer Res Treat , vol.110 , pp. 99-109
    • Li, W.F.1    Hu, Z.2    Rao, N.Y.3    Song, C.G.4    Zhang, B.5    Cao, M.Z.6
  • 9
    • 33749022506 scopus 로고    scopus 로고
    • Basal-like breast cancer and the BRCA1 phenotype
    • Turner NC, Reis-Filho JS. Basal-like breast cancer and the BRCA1 phenotype. Oncogene. 2006;25:5846-53
    • (2006) Oncogene , vol.25 , pp. 5846-5853
    • Turner, N.C.1    Reis-Filho, J.S.2
  • 10
    • 84890247728 scopus 로고    scopus 로고
    • Risk of having BRCA1 mutation in high-risk women with triple-negative breast cancer: a meta-analysis
    • Tun NM, Villani G, Ong K, Yoe L, Bo ZM. Risk of having BRCA1 mutation in high-risk women with triple-negative breast cancer: a meta-analysis. Clin Genet. 2014;85:43-8
    • (2014) Clin Genet , vol.85 , pp. 43-48
    • Tun, N.M.1    Villani, G.2    Ong, K.3    Yoe, L.4    Bo, Z.M.5
  • 11
    • 84896995635 scopus 로고    scopus 로고
    • Two decades after BRCA: setting paradigms in personalized cancer care and prevention
    • Couch FJ, Nathanson KL, Offit K. Two decades after BRCA: setting paradigms in personalized cancer care and prevention. Science. 2014;343:1466-70
    • (2014) Science , vol.343 , pp. 1466-1470
    • Couch, F.J.1    Nathanson, K.L.2    Offit, K.3
  • 12
    • 77956611159 scopus 로고    scopus 로고
    • Variation in breast cancer subtypes with age and race/ethnicity
    • Parise CA, Bauer KR, Caggiano V. Variation in breast cancer subtypes with age and race/ethnicity. Crit Rev Oncol Hematol. 2010;76:44-52
    • (2010) Crit Rev Oncol Hematol , vol.76 , pp. 44-52
    • Parise, C.A.1    Bauer, K.R.2    Caggiano, V.3
  • 13
    • 34547860028 scopus 로고    scopus 로고
    • Differences in breast carcinoma characteristics in newly diagnosed African-American and Caucasian patients: a single-institution compilation compared with the National Cancer Institute's Surveillance, Epidemiology, and End Results database
    • Morris GJ, Naidu S, Topham AK, Guiles F, Xu Y, McCue P, et al. Differences in breast carcinoma characteristics in newly diagnosed African-American and Caucasian patients: a single-institution compilation compared with the National Cancer Institute's Surveillance, Epidemiology, and End Results database. Cancer. 2007;110:876-84
    • (2007) Cancer , vol.110 , pp. 876-884
    • Morris, G.J.1    Naidu, S.2    Topham, A.K.3    Guiles, F.4    Xu, Y.5    McCue, P.6
  • 14
  • 15
    • 0037434090 scopus 로고    scopus 로고
    • Differences in breast cancer stage, treatment, and survival by race and ethnicity
    • Li CI, Malone KE, Daling JR. Differences in breast cancer stage, treatment, and survival by race and ethnicity. Arch Intern Med. 2003;163:49-56
    • (2003) Arch Intern Med , vol.163 , pp. 49-56
    • Li, C.I.1    Malone, K.E.2    Daling, J.R.3
  • 16
    • 80051518997 scopus 로고    scopus 로고
    • Triple-negative breast cancer in Hispanic patients: high prevalence, poor prognosis, and association with menopausal status, body mass index, and parity
    • Lara-Medina F, Perez-Sanchez V, Saavedra-Perez D, Blake-Cerda M, Arce C, Motola-Kuba D, et al. Triple-negative breast cancer in Hispanic patients: high prevalence, poor prognosis, and association with menopausal status, body mass index, and parity. Cancer. 2011;117:3658-69
    • (2011) Cancer , vol.117 , pp. 3658-3669
    • Lara-Medina, F.1    Perez-Sanchez, V.2    Saavedra-Perez, D.3    Blake-Cerda, M.4    Arce, C.5    Motola-Kuba, D.6
  • 17
    • 65649112508 scopus 로고    scopus 로고
    • BRCA1 and BRCA2 mutations in women of different ethnicities undergoing testing for hereditary breast-ovarian cancer
    • Hall MJ, Reid JE, Burbidge LA, Pruss D, Deffenbaugh AM, Frye C, et al. BRCA1 and BRCA2 mutations in women of different ethnicities undergoing testing for hereditary breast-ovarian cancer. Cancer. 2009;115:2222-33
    • (2009) Cancer , vol.115 , pp. 2222-2233
    • Hall, M.J.1    Reid, J.E.2    Burbidge, L.A.3    Pruss, D.4    Deffenbaugh, A.M.5    Frye, C.6
  • 18
    • 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, Miron A, Felberg A, Phipps AI, et al. 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. 2009;18:1084-91
    • (2009) Cancer Epidemiol Biomarkers Prev , vol.18 , pp. 1084-1091
    • Kurian, A.W.1    Gong, G.D.2    John, E.M.3    Miron, A.4    Felberg, A.5    Phipps, A.I.6
  • 19
    • 84865356805 scopus 로고    scopus 로고
    • Identification of the prevalent BRCA1 and BRCA2 mutations in the female population of Puerto Rico
    • Dutil J, Colon-Colon JL, Matta JL, Sutphen R, Echenique M. Identification of the prevalent BRCA1 and BRCA2 mutations in the female population of Puerto Rico. Cancer Genet. 2012;205:242-8
    • (2012) Cancer Genet , vol.205 , pp. 242-248
    • Dutil, J.1    Colon-Colon, J.L.2    Matta, J.L.3    Sutphen, R.4    Echenique, M.5
  • 20
    • 34548076029 scopus 로고    scopus 로고
    • Evidence for common ancestral origin of a recurring BRCA1 genomic rearrangement identified in high-risk Hispanic families
    • Weitzel JN, Lagos VI, Herzog JS, Judkins T, Hendrickson B, Ho JS, et al. Evidence for common ancestral origin of a recurring BRCA1 genomic rearrangement identified in high-risk Hispanic families. Cancer Epidemiology Biomarkers Prev. 2007;16:1615-20
    • (2007) Cancer Epidemiology Biomarkers Prev , vol.16 , pp. 1615-1620
    • Weitzel, J.N.1    Lagos, V.I.2    Herzog, J.S.3    Judkins, T.4    Hendrickson, B.5    Ho, J.S.6
  • 21
    • 55949092708 scopus 로고    scopus 로고
    • High sensitivity of BRCA1-deficient mammary tumors to the PARP inhibitor AZD2281 alone and in combination with platinum drugs
    • Rottenberg S, Jaspers JE, Kersbergen A, van der Burg E, Nygren AO, Zander SA, et al. High sensitivity of BRCA1-deficient mammary tumors to the PARP inhibitor AZD2281 alone and in combination with platinum drugs. Proc Natl Acad Sci U S A. 2008;105:17079-84
    • (2008) Proc Natl Acad Sci U S A , vol.105 , pp. 17079-17084
    • Rottenberg, S.1    Jaspers, J.E.2    Kersbergen, A.3    van der Burg, E.4    Nygren, A.O.5    Zander, S.A.6
  • 23
    • 67650471685 scopus 로고    scopus 로고
    • Inhibition of poly(ADP-ribose) polymerase in tumors from BRCA mutation carriers
    • Fong PC, Boss DS, Yap TA, Tutt A, Wu P, Mergui-Roelvink M, et al. Inhibition of poly(ADP-ribose) polymerase in tumors from BRCA mutation carriers. N Engl J Med. 2009;361:123-34
    • (2009) N Engl J Med , vol.361 , pp. 123-134
    • Fong, P.C.1    Boss, D.S.2    Yap, T.A.3    Tutt, A.4    Wu, P.5    Mergui-Roelvink, M.6
  • 24
    • 77954032829 scopus 로고    scopus 로고
    • Poly(ADP)-ribose polymerase inhibition: frequent durable responses in BRCA carrier ovarian cancer correlating with platinum-free interval
    • Fong PC, Yap TA, Boss DS, Carden CP, Mergui-Roelvink M, Gourley C, et al. Poly(ADP)-ribose polymerase inhibition: frequent durable responses in BRCA carrier ovarian cancer correlating with platinum-free interval. J Clin Oncol. 2010;28:2512-9
    • (2010) J Clin Oncol , vol.28 , pp. 2512-2519
    • Fong, P.C.1    Yap, T.A.2    Boss, D.S.3    Carden, C.P.4    Mergui-Roelvink, M.5    Gourley, C.6
  • 25
    • 77955019276 scopus 로고    scopus 로고
    • Oral poly(ADP-ribose) polymerase inhibitor olaparib in patients with BRCA1 or BRCA2 mutations and advanced breast cancer: a proof-of-concept trial
    • Tutt A, Robson M, Garber JE, Domchek SM, Audeh MW, Weitzel JN, et al. Oral poly(ADP-ribose) polymerase inhibitor olaparib in patients with BRCA1 or BRCA2 mutations and advanced breast cancer: a proof-of-concept trial. Lancet. 2010;376:235-44
    • (2010) Lancet , vol.376 , pp. 235-244
    • Tutt, A.1    Robson, M.2    Garber, J.E.3    Domchek, S.M.4    Audeh, M.W.5    Weitzel, J.N.6
  • 26
    • 77955039099 scopus 로고    scopus 로고
    • Oral poly(ADP-ribose) polymerase inhibitor olaparib in patients with BRCA1 or BRCA2 mutations and recurrent ovarian cancer: a proof-of-concept trial
    • Audeh MW, Carmichael J, Penson RT, Friedlander M, Powell B, Bell-McGuinn KM, et al. Oral poly(ADP-ribose) polymerase inhibitor olaparib in patients with BRCA1 or BRCA2 mutations and recurrent ovarian cancer: a proof-of-concept trial. Lancet. 2010;376:245-51
    • (2010) Lancet , vol.376 , pp. 245-251
    • Audeh, M.W.1    Carmichael, J.2    Penson, R.T.3    Friedlander, M.4    Powell, B.5    Bell-McGuinn, K.M.6
  • 27
    • 84880777712 scopus 로고    scopus 로고
    • The poly(ADP-ribose) polymerase inhibitor niraparib (MK4827) in BRCA mutation carriers and patients with sporadic cancer: a phase 1 dose-escalation trial
    • Sandhu SK, Schelman WR, Wilding G, Moreno V, Baird RD, Miranda S, et al. The poly(ADP-ribose) polymerase inhibitor niraparib (MK4827) in BRCA mutation carriers and patients with sporadic cancer: a phase 1 dose-escalation trial. Lancet Oncol. 2013;14:882-92
    • (2013) Lancet Oncol , vol.14 , pp. 882-892
    • Sandhu, S.K.1    Schelman, W.R.2    Wilding, G.3    Moreno, V.4    Baird, R.D.5    Miranda, S.6
  • 28
    • 34249717959 scopus 로고    scopus 로고
    • Diagnostic accuracy of methods for the detection of BRCA1 and BRCA2 mutations: a systematic review
    • Gerhardus A, Schleberger H, Schlegelberger B, Gadzicki D. Diagnostic accuracy of methods for the detection of BRCA1 and BRCA2 mutations: a systematic review. Eur J Hum Genet. 2007;15:619-27
    • (2007) Eur J Hum Genet , vol.15 , pp. 619-627
    • Gerhardus, A.1    Schleberger, H.2    Schlegelberger, B.3    Gadzicki, D.4
  • 29
    • 79951805438 scopus 로고    scopus 로고
    • Massive parallel amplicon sequencing of the breast cancer genes BRCA1 and BRCA2: opportunities, challenges, and limitations
    • De Leeneer K, Hellemans J, De Schrijver J, Baetens M, Poppe B, Van Criekinge W, et al. Massive parallel amplicon sequencing of the breast cancer genes BRCA1 and BRCA2: opportunities, challenges, and limitations. Hum Mutat. 2011;32:335-44
    • (2011) Hum Mutat , vol.32 , pp. 335-344
    • De Leeneer, K.1    Hellemans, J.2    De Schrijver, J.3    Baetens, M.4    Poppe, B.5    Van Criekinge, W.6
  • 31
    • 84865070623 scopus 로고    scopus 로고
    • Long-range PCR and next-generation sequencing of BRCA1 and BRCA2 in breast cancer
    • Ozcelik H, Shi X, Chang MC, Tram E, Vlasschaert M, Di Nicola N, et al. Long-range PCR and next-generation sequencing of BRCA1 and BRCA2 in breast cancer. J Mol Diagn. 2012;14:467-75
    • (2012) J Mol Diagn , vol.14 , pp. 467-475
    • Ozcelik, H.1    Shi, X.2    Chang, M.C.3    Tram, E.4    Vlasschaert, M.5    Di Nicola, N.6
  • 32
    • 81055126264 scopus 로고    scopus 로고
    • Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing
    • Walsh T, Casadei S, Lee MK, Pennil CC, Nord AS, Thornton AM, et al. Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing. Proc Natl Acad Sci U S A. 2011;108:18032-7
    • (2011) Proc Natl Acad Sci U S A , vol.108 , pp. 18032-18037
    • Walsh, T.1    Casadei, S.2    Lee, M.K.3    Pennil, C.C.4    Nord, A.S.5    Thornton, A.M.6
  • 33
    • 84875519657 scopus 로고    scopus 로고
    • Nonoptical massive parallel DNA sequencing of BRCA1 and BRCA2 genes in a diagnostic setting
    • Costa JL, Sousa S, Justino A, Kay T, Fernandes S, Cirnes L, et al. Nonoptical massive parallel DNA sequencing of BRCA1 and BRCA2 genes in a diagnostic setting. Hum Mutat. 2013;34:629-35
    • (2013) Hum Mutat , vol.34 , pp. 629-635
    • Costa, J.L.1    Sousa, S.2    Justino, A.3    Kay, T.4    Fernandes, S.5    Cirnes, L.6
  • 34
    • 85006185413 scopus 로고    scopus 로고
    • Accessed 13 August
    • LOVD BRCA database. http://brca.iarc.fr/LOVD. Accessed 13 August 2015
    • (2015)
  • 35
    • 78650372104 scopus 로고    scopus 로고
    • Prevalence of BRCA1 and BRCA2 mutations in women with breast carcinoma In Situ and referred for genetic testing
    • HallMJ, Reid JE, Wenstrup RJ. Prevalence of BRCA1 and BRCA2 mutations in women with breast carcinoma In Situ and referred for genetic testing. Cancer Prev Res. 2010;3:1579-85
    • (2010) Cancer Prev Res , vol.3 , pp. 1579-1585
    • Hall, M.J.1    Reid, J.E.2    Wenstrup, R.J.3
  • 37
    • 85006209110 scopus 로고    scopus 로고
    • Accessed 13 August
    • 1000 genomes website. http://www.1000genomes.org. Accessed 13 August 2015
    • (2015)
  • 38
    • 84948568072 scopus 로고    scopus 로고
    • Accessed 13 August
    • Breast Cancer Information Core. http://research.nhgri.nih.gov/projects/bic. Accessed 13 August 2015
    • (2015) Breast Cancer Information Core
  • 39
    • 85006213484 scopus 로고    scopus 로고
    • Accessed 13 August
    • Align-GVGD website. http://agvgd.iarc.fr. Accessed 13 August 2015
    • (2015)
  • 41
    • 84884900317 scopus 로고    scopus 로고
    • The new sequencer on the block: comparison of Life Technology's Proton sequencer to an Illumina HiSeq for whole-exome sequencing
    • Boland JF, Chung CC, Roberson D, Mitchell J, Zhang X, Im KM, et al. The new sequencer on the block: comparison of Life Technology's Proton sequencer to an Illumina HiSeq for whole-exome sequencing. Hum Genet. 2013;132:1153-63
    • (2013) Hum Genet , vol.132 , pp. 1153-1163
    • Boland, J.F.1    Chung, C.C.2    Roberson, D.3    Mitchell, J.4    Zhang, X.5    Im, K.M.6
  • 42
    • 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;293:1729-36
    • (2005) JAMA , vol.293 , pp. 1729-1736
    • Armstrong, K.1    Micco, E.2    Carney, A.3    Stopfer, J.4    Putt, M.5
  • 43
    • 77956518820 scopus 로고    scopus 로고
    • Influence of race/ethnicity on genetic counseling and testing for hereditary breast and ovarian cancer
    • Forman AD, Hall MJ. Influence of race/ethnicity on genetic counseling and testing for hereditary breast and ovarian cancer. Breast J. 2009;15 Suppl 1:S56-62
    • (2009) Breast J , vol.15 , pp. S56-62
    • Forman, A.D.1    Hall, M.J.2
  • 44
    • 79955009383 scopus 로고    scopus 로고
    • Underutilization of BRCA1/2 testing to guide breast cancer treatment: black and Hispanic women particularly at risk
    • Levy DE, Byfield SD, Comstock CB, Garber JE, Syngal S, Crown WH, et al. Underutilization of BRCA1/2 testing to guide breast cancer treatment: black and Hispanic women particularly at risk. Genet Med. 2011;13:349-55
    • (2011) Genet Med , vol.13 , pp. 349-355
    • Levy, D.E.1    Byfield, S.D.2    Comstock, C.B.3    Garber, J.E.4    Syngal, S.5    Crown, W.H.6
  • 45
    • 85006204135 scopus 로고    scopus 로고
    • GetColor [https://getcolor.com]
  • 46
    • 84872579612 scopus 로고    scopus 로고
    • Prevalence and type of BRCA mutations in Hispanics undergoing genetic cancer risk assessment in the southwestern United States: a report from the Clinical Cancer Genetics Community Research Network
    • Weitzel JN, Clague J, Martir-Negron A, Ogaz R, Herzog J, Ricker C, et al. Prevalence and type of BRCA mutations in Hispanics undergoing genetic cancer risk assessment in the southwestern United States: a report from the Clinical Cancer Genetics Community Research Network. J Clin Oncol. 2013;31:210-6
    • (2013) J Clin Oncol , vol.31 , pp. 210-216
    • Weitzel, J.N.1    Clague, J.2    Martir-Negron, A.3    Ogaz, R.4    Herzog, J.5    Ricker, C.6
  • 47
    • 84922628243 scopus 로고    scopus 로고
    • Next-Generation Sequencing of the BRCA1 and BRCA2 Genes for the Genetic Diagnostics of Hereditary Breast and/or Ovarian Cancer
    • Trujillano D, Weiss ME, Schneider J, Koster J, Papachristos EB, Saviouk V, et al. Next-Generation Sequencing of the BRCA1 and BRCA2 Genes for the Genetic Diagnostics of Hereditary Breast and/or Ovarian Cancer. J Mol Diagn. 2015;17:162-70
    • (2015) J Mol Diagn , vol.17 , pp. 162-170
    • Trujillano, D.1    Weiss, M.E.2    Schneider, J.3    Koster, J.4    Papachristos, E.B.5    Saviouk, V.6
  • 49
    • 85006221298 scopus 로고    scopus 로고
    • Accessed 13 August
    • Ion Ampliseq Designer website. http://www.ampliseq.com. Accessed 13 August 2015
    • (2015)
  • 50
    • 85006221878 scopus 로고    scopus 로고
    • Accessed 13 August
    • TMAP-torrent mapping alignment program GitHub page. http://github.com/iontorrent/TS/tree/master/Analysis/TMAP. Accessed 13 August 2015
    • (2015)
  • 51
    • 85006220206 scopus 로고    scopus 로고
    • Accessed 13 August
    • GLU: Genotype Library and Utilities google code papge. http://code.google.com/p/glu-genetics. Accessed 13 August 2015
    • (2015)
  • 52
    • 84875634162 scopus 로고    scopus 로고
    • Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration
    • Thorvaldsdottir H, Robinson JT, Mesirov JP. Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration. Brief Bioinform. 2013;14:178-92
    • (2013) Brief Bioinform , vol.14 , pp. 178-192
    • Thorvaldsdottir, H.1    Robinson, J.T.2    Mesirov, J.P.3
  • 53
    • 85006186325 scopus 로고    scopus 로고
    • Accessed 13 August
    • ClinVar website. http://www.ncbi.nlm.nih.gov/clinvar. Accessed 13 August 2015
    • (2015)
  • 54
    • 33644537810 scopus 로고    scopus 로고
    • Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral
    • Tavtigian SV, Deffenbaugh AM, Yin L, Judkins T, Scholl T, Samollow PB, et al. Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral. J Med Genet. 2006;43:295-305
    • (2006) J Med Genet , vol.43 , pp. 295-305
    • Tavtigian, S.V.1    Deffenbaugh, A.M.2    Yin, L.3    Judkins, T.4    Scholl, T.5    Samollow, P.B.6
  • 55
    • 33644993216 scopus 로고    scopus 로고
    • Computational approaches for predicting the biological effect of p53 missense mutations: a comparison of three sequence analysis based methods
    • Mathe E, Olivier M, Kato S, Ishioka C, Hainaut P, Tavtigian SV. Computational approaches for predicting the biological effect of p53 missense mutations: a comparison of three sequence analysis based methods. Nucleic Acids Res.2006;34:1317-25
    • (2006) Nucleic Acids Res , vol.34 , pp. 1317-1325
    • Mathe, E.1    Olivier, M.2    Kato, S.3    Ishioka, C.4    Hainaut, P.5    Tavtigian, S.V.6
  • 56
    • 84979529739 scopus 로고    scopus 로고
    • Supporting data for "Addressing health disparities in Hispanic breast cancer: Accurate and inexpensive sequencing of BRCA1 and BRCA2"
    • Dean M, Boland J, Yeager M, Im KM, Garland L, Rodriguez-Herrera M, et al. Supporting data for "Addressing health disparities in Hispanic breast cancer: Accurate and inexpensive sequencing of BRCA1 and BRCA2". GigaScience Database. 2015. http://dx.doi.org/10.5524/100154
    • (2015) GigaScience Database
    • Dean, M.1    Boland, J.2    Yeager, M.3    Im, K.M.4    Garland, L.5    Rodriguez-Herrera, M.6
  • 59
    • 84976430922 scopus 로고    scopus 로고
    • New recurrent BRCA1/2 mutations in Polish patients with familial breast/ovarian cancer detected by next generation sequencing
    • Kluska A, Balabas A, Paziewska A, Kulecka M, Nowakowska D, Mikula M, et al. New recurrent BRCA1/2 mutations in Polish patients with familial breast/ovarian cancer detected by next generation sequencing. BMC medical genomics 2015;8:19
    • (2015) BMC medical genomics , vol.8 , pp. 19
    • Kluska, A.1    Balabas, A.2    Paziewska, A.3    Kulecka, M.4    Nowakowska, D.5    Mikula, M.6
  • 60
    • 84903459577 scopus 로고    scopus 로고
    • Evaluation and optimisation of indel detection workflows for ion torrent sequencing of the BRCA1 and BRCA2 genes
    • Yeo ZX, Wong JC, Rozen SG, Lee AS: Evaluation and optimisation of indel detection workflows for ion torrent sequencing of the BRCA1 and BRCA2 genes. BMC genomics 2014;15:516
    • (2014) BMC genomics , vol.15 , pp. 516
    • Yeo, Z.X.1    Wong, J.C.2    Rozen, S.G.3    Lee, A.S.4
  • 61
    • 84867400465 scopus 로고    scopus 로고
    • Development of a nextgeneration sequencing method for BRCA mutation screening: a comparison between a high-throughput and a benchtop platform
    • Chan M, Ji SM, Yeo ZX, Gan L, Yap E, Yap YS, et al. Development of a nextgeneration sequencing method for BRCA mutation screening: a comparison between a high-throughput and a benchtop platform. The Journal of molecular diagnostics: JMD 2012;14:602-12
    • (2012) The Journal of molecular diagnostics: JMD , vol.14 , pp. 602-612
    • Chan, M.1    Ji, S.M.2    Yeo, Z.X.3    Gan, L.4    Yap, E.5    Yap, Y.S.6


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