메뉴 건너뛰기




Volumn 104, Issue 3, 2007, Pages 257-266

Prediction of BRCA1 and BRCA2 mutation status using post-irradiation assays of lymphoblastoid cell lines is compromised by inter-cell-line phenotypic variability

Author keywords

BRCA1; BRCA2; Lymphoblastoid cell lines; Post IR metabolism

Indexed keywords

BRCA1 PROTEIN; BRCA2 PROTEIN;

EID: 34547799616     PISSN: 01676806     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10549-006-9415-5     Document Type: Article
Times cited : (7)

References (42)
  • 1
    • 0037237077 scopus 로고    scopus 로고
    • Evaluation of the diagnostic accuracy of the stop codon (SC) assay for identifying protein-truncating mutations in the BRCA1and BRCA2 genes in familial breast cancer
    • 3
    • Sakayori M, Kawahara M, Shiraishi K et al (2003) Evaluation of the diagnostic accuracy of the stop codon (SC) assay for identifying protein-truncating mutations in the BRCA1and BRCA2 genes in familial breast cancer. J Hum Genet 48(3):130-137
    • (2003) J Hum Genet , vol.48 , pp. 130-137
    • Sakayori, M.1    Kawahara, M.2    Shiraishi, K.3
  • 2
    • 0035864827 scopus 로고    scopus 로고
    • Functional analysis of BRCA1 C-terminal missense mutations identified in breast and ovarian cancer families
    • 4
    • Vallon-Christersson J, Cayanan C, Haraldsson K et al (2001) Functional analysis of BRCA1 C-terminal missense mutations identified in breast and ovarian cancer families. Hum Mol Genet 10(4):353-360
    • (2001) Hum Mol Genet , vol.10 , pp. 353-360
    • Vallon-Christersson, J.1    Cayanan, C.2    Haraldsson, K.3
  • 3
    • 0346101739 scopus 로고    scopus 로고
    • Detection of protein folding defects caused by BRCA1-BRCT truncation and missense mutations
    • 52
    • Williams RS, Chasman DI, Hau DD et al (2003) Detection of protein folding defects caused by BRCA1-BRCT truncation and missense mutations. J Biol Chem 278(52):53007-53016
    • (2003) J Biol Chem , vol.278 , pp. 53007-53016
    • Williams, R.S.1    Chasman, D.I.2    Hau, D.D.3
  • 4
    • 0031981818 scopus 로고    scopus 로고
    • A BRCA1 nonsense mutation causes exon skipping
    • 3
    • Mazoyer S, Puget N, Perrin-Vidoz L et al (1998) A BRCA1 nonsense mutation causes exon skipping. Am J Hum Genet 62(3):713-715
    • (1998) Am J Hum Genet , vol.62 , pp. 713-715
    • Mazoyer, S.1    Puget, N.2    Perrin-Vidoz, L.3
  • 5
    • 0347320584 scopus 로고    scopus 로고
    • Cytoplasmic mislocalization of BRCA1 caused by cancer-associated mutations in the BRCT domain
    • 1
    • Rodriguez JA, Au WW, Henderson BR (2004) Cytoplasmic mislocalization of BRCA1 caused by cancer-associated mutations in the BRCT domain. Exp Cell Res 293(1):14-21
    • (2004) Exp Cell Res , vol.293 , pp. 14-21
    • Rodriguez, J.A.1    Au, W.W.2    Henderson, B.R.3
  • 6
    • 12544252133 scopus 로고    scopus 로고
    • Functional evaluation and cancer risk assessment of BRCA2 unclassified variants
    • 2
    • Wu K, Hinson SR, Ohashi A et al (2005) Functional evaluation and cancer risk assessment of BRCA2 unclassified variants. Cancer Res 65(2):417-426
    • (2005) Cancer Res , vol.65 , pp. 417-426
    • Wu, K.1    Hinson, S.R.2    Ohashi, A.3
  • 7
    • 0030850047 scopus 로고    scopus 로고
    • Dynamic changes of BRCA1 subnuclear location and phosphorylation state are initiated by DNA damage
    • 3
    • Scully R, Chen J, Ochs RL et al (1997) Dynamic changes of BRCA1 subnuclear location and phosphorylation state are initiated by DNA damage. Cell 90(3):425-435
    • (1997) Cell , vol.90 , pp. 425-435
    • Scully, R.1    Chen, J.2    Ochs, R.L.3
  • 8
    • 0033603440 scopus 로고    scopus 로고
    • BRCA1 expression restores radiation resistance in BRCA1-defective cancer cells through enhancement of transcription-coupled DNA repair
    • 26
    • Abbott DW, Thompson ME, Robinson-Benion C et al (1999) BRCA1 expression restores radiation resistance in BRCA1-defective cancer cells through enhancement of transcription-coupled DNA repair. J Biol Chem 274(26):18808-18812
    • (1999) J Biol Chem , vol.274 , pp. 18808-18812
    • Abbott, D.W.1    Thompson, M.E.2    Robinson-Benion, C.3
  • 9
    • 0032542216 scopus 로고    scopus 로고
    • A targeted disruption of the murine Brca1 gene causes gamma-irradiation hypersensitivity and genetic instability
    • 24
    • Shen SX, Weaver Z, Xu X et al (1998) A targeted disruption of the murine Brca1 gene causes gamma-irradiation hypersensitivity and genetic instability. Oncogene 17(24):3115-3124
    • (1998) Oncogene , vol.17 , pp. 3115-3124
    • Shen, S.X.1    Weaver, Z.2    Xu, X.3
  • 10
    • 0038031592 scopus 로고    scopus 로고
    • Role of BRCA1 in cellular resistance to paclitaxel and ionizing radiation in an ovarian cancer cell line carrying a defective BRCA1
    • 16
    • Zhou C, Smith JL, Liu J (2003) Role of BRCA1 in cellular resistance to paclitaxel and ionizing radiation in an ovarian cancer cell line carrying a defective BRCA1. Oncogene 22(16):2396-2404
    • (2003) Oncogene , vol.22 , pp. 2396-2404
    • Zhou, C.1    Smith, J.L.2    Liu, J.3
  • 11
    • 0033518121 scopus 로고    scopus 로고
    • Gamma-rays-induced death of human cells carrying mutations of BRCA1 or BRCA2
    • 51
    • Foray N, Randrianarison V, Marot D et al (1999) Gamma-rays-induced death of human cells carrying mutations of BRCA1 or BRCA2. Oncogene 18(51):7334-7342
    • (1999) Oncogene , vol.18 , pp. 7334-7342
    • Foray, N.1    Randrianarison, V.2    Marot, D.3
  • 12
    • 0344984281 scopus 로고    scopus 로고
    • Differing effects of breast cancer 1, early onset (BRCA1) and ataxia-telangiectasia mutated (ATM) mutations on cellular responses to ionizing radiation
    • 10
    • Mamon HJ, Dahlberg W, Azzam EI et al (2003) Differing effects of breast cancer 1, early onset (BRCA1) and ataxia-telangiectasia mutated (ATM) mutations on cellular responses to ionizing radiation. Int J Radiat Biol 79(10):817-829
    • (2003) Int J Radiat Biol , vol.79 , pp. 817-829
    • Mamon, H.J.1    Dahlberg, W.2    Azzam, E.I.3
  • 13
    • 0038182453 scopus 로고    scopus 로고
    • A subset of ATM- and ATR-dependent phosphorylation events requires the BRCA1 protein
    • 11
    • Foray N, Marot D, Gabriel A et al (2003) A subset of ATM- and ATR-dependent phosphorylation events requires the BRCA1 protein. EMBO J 22(11):2860-2871
    • (2003) EMBO J , vol.22 , pp. 2860-2871
    • Foray, N.1    Marot, D.2    Gabriel, A.3
  • 14
    • 0033400828 scopus 로고    scopus 로고
    • Genetic analysis of BRCA1 function in a defined tumor cell line
    • 6
    • Scully R, Ganesan S, Vlasakova K et al (1999) Genetic analysis of BRCA1 function in a defined tumor cell line. Mol Cell 4(6):1093-1099
    • (1999) Mol Cell , vol.4 , pp. 1093-1099
    • Scully, R.1    Ganesan, S.2    Vlasakova, K.3
  • 15
    • 9144269673 scopus 로고    scopus 로고
    • A member of the Pyrin family, IFI16, is a novel BRCA1-associated protein involved in the p53-mediated apoptosis pathway
    • 55
    • Aglipay JA, Lee SW, Okada S et al (2003) A member of the Pyrin family, IFI16, is a novel BRCA1-associated protein involved in the p53-mediated apoptosis pathway. Oncogene 22(55):8931-8938
    • (2003) Oncogene , vol.22 , pp. 8931-8938
    • Aglipay, J.A.1    Lee, S.W.2    Okada, S.3
  • 16
    • 0036136316 scopus 로고    scopus 로고
    • Brca2 (XRCC11) deficiency results in radioresistant DNA synthesis and a higher frequency of spontaneous deletions
    • 2
    • Kraakman-van der Zwet M, Overkamp WJ, van Lange RE et al (2002) Brca2 (XRCC11) deficiency results in radioresistant DNA synthesis and a higher frequency of spontaneous deletions. Mol Cell Biol 22(2):669-679
    • (2002) Mol Cell Biol , vol.22 , pp. 669-679
    • Kraakman-Van Der Zwet, M.1    Overkamp, W.J.2    Van Lange, R.E.3
  • 17
    • 2342565206 scopus 로고    scopus 로고
    • Functional consequences of ATM sequence variants for chromosomal radiosensitivity
    • 2
    • Gutierrez-Enriquez S, Fernet M, Dork T et al (2004) Functional consequences of ATM sequence variants for chromosomal radiosensitivity. Genes Chromosomes Cancer 40(2):109-119
    • (2004) Genes Chromosomes Cancer , vol.40 , pp. 109-119
    • Gutierrez-Enriquez, S.1    Fernet, M.2    Dork, T.3
  • 18
    • 0037734244 scopus 로고    scopus 로고
    • Variation in radiation-induced apoptosis in ataxia telangiectasia lymphoblastoid cell lines
    • 3
    • Fernet M, Angele S, Dork T et al (2003) Variation in radiation-induced apoptosis in ataxia telangiectasia lymphoblastoid cell lines. Int J Radiat Biol 79(3):193-202
    • (2003) Int J Radiat Biol , vol.79 , pp. 193-202
    • Fernet, M.1    Angele, S.2    Dork, T.3
  • 19
    • 9144264836 scopus 로고    scopus 로고
    • ATM haplotypes and cellular response to DNA damage: Association with breast cancer risk and clinical radiosensitivity
    • 24
    • Angele S, Romestaing P, Moullan N et al (2003) ATM haplotypes and cellular response to DNA damage: association with breast cancer risk and clinical radiosensitivity. Cancer Res 63(24):8717-8725
    • (2003) Cancer Res , vol.63 , pp. 8717-8725
    • Angele, S.1    Romestaing, P.2    Moullan, N.3
  • 20
    • 1342280367 scopus 로고    scopus 로고
    • Fidelity of DNA double-strand break repair in heterozygous cell lines harbouring BRCA1 missense mutations
    • 4
    • Coupier I, Baldeyron C, Rousseau A et al (2004) Fidelity of DNA double-strand break repair in heterozygous cell lines harbouring BRCA1 missense mutations. Oncogene 23(4):914-919
    • (2004) Oncogene , vol.23 , pp. 914-919
    • Coupier, I.1    Baldeyron, C.2    Rousseau, A.3
  • 21
    • 0034650339 scopus 로고    scopus 로고
    • Induced micronucleus frequencies in peripheral lymphocytes as a screening test for carriers of a BRCA1 mutation in breast cancer families
    • 2
    • Rothfuss A, Schutz P, Bochum S et al (2000) Induced micronucleus frequencies in peripheral lymphocytes as a screening test for carriers of a BRCA1 mutation in breast cancer families. Cancer Res 60(2):390-394
    • (2000) Cancer Res , vol.60 , pp. 390-394
    • Rothfuss, A.1    Schutz, P.2    Bochum, S.3
  • 22
    • 0035421199 scopus 로고    scopus 로고
    • Correspondence re: A. Rothfuss et al., Induced micronucleus frequencies in peripheral blood lymphocytes as a screening test for carriers of a BRCA1 mutation in breast cancer families. Cancer Res 60:390-394, 2000
    • Baria K, Warren C, Roberts SA et al (2001) Correspondence re: A. Rothfuss et al., Induced micronucleus frequencies in peripheral blood lymphocytes as a screening test for carriers of a BRCA1 mutation in breast cancer families. Cancer Res 60:390-394, 2000. Cancer Res 61(15):5948-5949
    • (2001) Cancer Res , vol.61 , Issue.15 , pp. 5948-5949
    • Baria, K.1    Warren, C.2    Roberts, S.A.3
  • 23
    • 0034486523 scopus 로고    scopus 로고
    • Mutagen sensitivity of human lymphoblastoid cells with a BRCA1 mutation in comparison to ataxia telangiectasia heterozygote cells
    • 1-4
    • Speit G, Trenz K, Schutz P et al (2000) Mutagen sensitivity of human lymphoblastoid cells with a BRCA1 mutation in comparison to ataxia telangiectasia heterozygote cells. Cytogenet Cell Genet 91(1-4):261-266
    • (2000) Cytogenet Cell Genet , vol.91 , pp. 261-266
    • Speit, G.1    Trenz, K.2    Schutz, P.3
  • 24
    • 0037139239 scopus 로고    scopus 로고
    • Mutagen sensitivity of peripheral blood from women carrying a BRCA1 or BRCA2 mutation
    • 1-2
    • Trenz K, Rothfuss A, Schutz P et al (2002) Mutagen sensitivity of peripheral blood from women carrying a BRCA1 or BRCA2 mutation. Mutat Res 500(1-2):89-96
    • (2002) Mutat Res , vol.500 , pp. 89-96
    • Trenz, K.1    Rothfuss, A.2    Schutz, P.3
  • 25
    • 0037368929 scopus 로고    scopus 로고
    • Mutagen sensitivity of human lymphoblastoid cells with a BRCA1 mutation
    • 1
    • Trenz K, Landgraf J, Speit G (2003) Mutagen sensitivity of human lymphoblastoid cells with a BRCA1 mutation. Breast Cancer Res Treat 78(1):69-79
    • (2003) Breast Cancer Res Treat , vol.78 , pp. 69-79
    • Trenz, K.1    Landgraf, J.2    Speit, G.3
  • 26
    • 0345254953 scopus 로고    scopus 로고
    • Enhanced sensitivity of peripheral blood lymphocytes from women carrying a BRCA1 mutation towards the mutagenic effects of various cytostatics
    • 2-3
    • Trenz K, Lugowski S, Jahrsdorfer U et al (2003) Enhanced sensitivity of peripheral blood lymphocytes from women carrying a BRCA1 mutation towards the mutagenic effects of various cytostatics. Mutat Res 544(2-3):279-288
    • (2003) Mutat Res , vol.544 , pp. 279-288
    • Trenz, K.1    Lugowski, S.2    Jahrsdorfer, U.3
  • 27
    • 18344373662 scopus 로고    scopus 로고
    • Radiosensitivity of lymphoblastoid cell lines with a heterozygous BRCA1 mutation is not detected by the comet assay and pulsed field gel electrophoresis
    • 2
    • Trenz K, Schutz P, Speit G (2005) Radiosensitivity of lymphoblastoid cell lines with a heterozygous BRCA1 mutation is not detected by the comet assay and pulsed field gel electrophoresis. Mutagenesis 20(2):131-137
    • (2005) Mutagenesis , vol.20 , pp. 131-137
    • Trenz, K.1    Schutz, P.2    Speit, G.3
  • 28
    • 12344318591 scopus 로고    scopus 로고
    • Chromosomal radiosensitivity in BRCA1 and BRCA2 mutation carriers
    • 10
    • Baeyens A, Thierens H, Claes K et al (2004) Chromosomal radiosensitivity in BRCA1 and BRCA2 mutation carriers. Int J Radiat Biol 80(10):745-756
    • (2004) Int J Radiat Biol , vol.80 , pp. 745-756
    • Baeyens, A.1    Thierens, H.2    Claes, K.3
  • 29
    • 10744221736 scopus 로고    scopus 로고
    • Establishment of stably EBV-transformed cell lines from residual clinical blood samples for use in performance evaluation and quality assurance in molecular genetic testing
    • 4
    • Bernacki SH, Stankovic AK, Williams LO et al (2003) Establishment of stably EBV-transformed cell lines from residual clinical blood samples for use in performance evaluation and quality assurance in molecular genetic testing. J Mol Diagn 5(4):227-230
    • (2003) J Mol Diagn , vol.5 , pp. 227-230
    • Bernacki, S.H.1    Stankovic, A.K.2    Williams, L.O.3
  • 30
    • 0015539979 scopus 로고
    • Release of infectious Epstein-Barr virus by transformed marmoset leukocytes
    • 1
    • Miller G, Lipman M (1973) Release of infectious Epstein-Barr virus by transformed marmoset leukocytes. Proc Natl Acad Sci USA 70(1):190-194
    • (1973) Proc Natl Acad Sci USA , vol.70 , pp. 190-194
    • Miller, G.1    Lipman, M.2
  • 31
    • 30844440304 scopus 로고    scopus 로고
    • Genetic, functional and histopathological evaluation of two C-terminal BRCA1 missense variants
    • 1
    • Lovelock PK, Healey S, Au W et al (2005) Genetic, functional and histopathological evaluation of two C-terminal BRCA1 missense variants. J Med Genet 43(1):74-83
    • (2005) J Med Genet , vol.43 , pp. 74-83
    • Lovelock, P.K.1    Healey, S.2    Au, W.3
  • 32
    • 33644529562 scopus 로고    scopus 로고
    • Molecular characterization and cancer risk associated with BRCA1 and BRCA2 splice site variants identified in multiple-case breast cancer families
    • 5
    • Tesoriero AA, Wong EM, Jenkins MA et al (2005) Molecular characterization and cancer risk associated with BRCA1 and BRCA2 splice site variants identified in multiple-case breast cancer families. Hum Mutat 26(5):495
    • (2005) Hum Mutat , vol.26 , pp. 495
    • Tesoriero, A.A.1    Wong, E.M.2    Jenkins, M.A.3
  • 33
    • 0037427911 scopus 로고    scopus 로고
    • Intra- and inter-laboratory variation in the scoring of micronuclei and nucleoplasmic bridges in binucleated human lymphocytes. Results of an international slide-scoring exercise by the HUMN project
    • 1-2
    • Fenech M, Bonassi S, Turner J et al (2003) Intra- and inter-laboratory variation in the scoring of micronuclei and nucleoplasmic bridges in binucleated human lymphocytes. Results of an international slide-scoring exercise by the HUMN project. Mutat Res 534(1-2):45-64
    • (2003) Mutat Res , vol.534 , pp. 45-64
    • Fenech, M.1    Bonassi, S.2    Turner, J.3
  • 34
    • 0037427878 scopus 로고    scopus 로고
    • HUMN project: Detailed description of the scoring criteria for the cytokinesis-block micronucleus assay using isolated human lymphocyte cultures
    • 1-2
    • Fenech M, Chang WP, Kirsch-Volders M et al (2003) HUMN project: detailed description of the scoring criteria for the cytokinesis-block micronucleus assay using isolated human lymphocyte cultures. Mutat Res 534(1-2):65-75
    • (2003) Mutat Res , vol.534 , pp. 65-75
    • Fenech, M.1    Chang, W.P.2    Kirsch-Volders, M.3
  • 35
    • 0021126641 scopus 로고
    • Identification of multiple Epstein-Barr virus-induced nuclear antigens with sera from patients with rheumatoid arthritis
    • 1
    • Sculley TB, Walker PJ, Moss DJ et al (1984) Identification of multiple Epstein-Barr virus-induced nuclear antigens with sera from patients with rheumatoid arthritis. J Virol 52(1):88-93
    • (1984) J Virol , vol.52 , pp. 88-93
    • Sculley, T.B.1    Walker, P.J.2    Moss, D.J.3
  • 36
    • 0242721645 scopus 로고    scopus 로고
    • BRCA1 inhibition of telomerase activity in cultured cells
    • 23
    • Xiong J, Fan S, Meng Q et al (2003) BRCA1 inhibition of telomerase activity in cultured cells. Mol Cell Biol 23(23):8668-8690
    • (2003) Mol Cell Biol , vol.23 , pp. 8668-8690
    • Xiong, J.1    Fan, S.2    Meng, Q.3
  • 37
    • 32544442886 scopus 로고    scopus 로고
    • Disruption of BRCA1 function results in telomere lengthening and an increase in anaphase bridge formation in immortalised cell lines
    • 3
    • French J, Dunn J, Smart CE, Manning N, Brown MA (2005) Disruption of BRCA1 function results in telomere lengthening and an increase in anaphase bridge formation in immortalised cell lines. Genes Chromosomes Cancer 45(3):277-289
    • (2005) Genes Chromosomes Cancer , vol.45 , pp. 277-289
    • French, J.1    Dunn, J.2    Smart, C.E.3    Manning, N.4    Brown, M.A.5
  • 38
    • 19944410471 scopus 로고    scopus 로고
    • Mapping of a major locus that determines telomere length in humans
    • 1
    • Vasa-Nicotera M, Brouilette S, Mangino M et al (2005) Mapping of a major locus that determines telomere length in humans. Am J Hum Genet 76(1):147-151
    • (2005) Am J Hum Genet , vol.76 , pp. 147-151
    • Vasa-Nicotera, M.1    Brouilette, S.2    Mangino, M.3
  • 39
    • 0036164074 scopus 로고    scopus 로고
    • Telomere lengths are characteristic in each human individual
    • 4
    • Takubo K, Izumiyama-Shimomura N, Honma N et al (2002) Telomere lengths are characteristic in each human individual. Exp Gerontol 37(4):523-531
    • (2002) Exp Gerontol , vol.37 , pp. 523-531
    • Takubo, K.1    Izumiyama-Shimomura, N.2    Honma, N.3
  • 40
    • 0036785575 scopus 로고    scopus 로고
    • Epstein-Barr virus-induced changes in B-lymphocyte gene expression
    • 20
    • Carter KL, Cahir-McFarland E, Kieff E (2002) Epstein-Barr virus-induced changes in B-lymphocyte gene expression. J Virol 76(20):10427-10436
    • (2002) J Virol , vol.76 , pp. 10427-10436
    • Carter, K.L.1    Cahir-Mcfarland, E.2    Kieff, E.3
  • 41
    • 1442283728 scopus 로고    scopus 로고
    • The EBNA-3 gene family proteins disrupt the G2/M checkpoint
    • 7
    • Krauer KG, Burgess A, Buck M et al (2004) The EBNA-3 gene family proteins disrupt the G2/M checkpoint. Oncogene 23(7):1342-1353
    • (2004) Oncogene , vol.23 , pp. 1342-1353
    • Krauer, K.G.1    Burgess, A.2    Buck, M.3
  • 42
    • 10744231591 scopus 로고    scopus 로고
    • Gene expression profiling after radiation-induced DNA damage is strongly predictive of BRCA1 mutation carrier status
    • 3
    • Kote-Jarai Z, Williams RD, Cattini N et al (2004) Gene expression profiling after radiation-induced DNA damage is strongly predictive of BRCA1 mutation carrier status. Clin Cancer Res 10(3):958-963
    • (2004) Clin Cancer Res , vol.10 , pp. 958-963
    • Kote-Jarai, Z.1    Williams, R.D.2    Cattini, N.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.