메뉴 건너뛰기




Volumn 10, Issue 6, 2015, Pages

Prevalence of germline mutations in genes engaged in DNA damage repair by homologous recombination in patients with triple-negative and hereditary non-triple-negative breast cancers

Author keywords

[No Author keywords available]

Indexed keywords

ATM PROTEIN; BRCA1 ASSOCIATED RING DOMAIN PROTEIN 1; BRCA1 PROTEIN; BRCA2 PROTEIN; CHECKPOINT KINASE 2; EPIDERMAL GROWTH FACTOR RECEPTOR 2; ERBB2 PROTEIN, HUMAN; ESTROGEN RECEPTOR; PROGESTERONE RECEPTOR; TUMOR MARKER;

EID: 84939157137     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0130393     Document Type: Article
Times cited : (25)

References (61)
  • 1
    • 78149483057 scopus 로고    scopus 로고
    • Triple-negative breast cancer
    • PMID: 21067385
    • Foulkes WD, Smith IE, Reis-Filho JS. Triple-negative breast cancer. N Engl J Med. 2010; 363: 1938-1948. doi:10.1056/NEJMra1001389 PMID: 21067385.
    • (2010) N Engl J Med. , vol.363 , pp. 1938-1948
    • Foulkes, W.D.1    Smith, I.E.2    Reis-Filho, J.S.3
  • 2
    • 80052717453 scopus 로고    scopus 로고
    • The negative effect of triplenegative breast cancer on outcome after breast-conserving therapy
    • PMID: 21442346
    • Zaky SS, Lund M, May KA, Godette KD, Beitler JJ, Holmes LR, et al. The negative effect of triplenegative breast cancer on outcome after breast-conserving therapy. Ann Surg Oncol. 2011; 18: 2858-2865. doi:10.1245/s10434-011-1669-4 PMID: 21442346.
    • (2011) Ann Surg Oncol , vol.18 , pp. 2858-2865
    • Zaky, S.S.1    Lund, M.2    May, K.A.3    Godette, K.D.4    Beitler, J.J.5    Holmes, L.R.6
  • 3
    • 78651339074 scopus 로고    scopus 로고
    • Immunophenotypic predictive profiling of BRCA1-associated breast cancer
    • PMID: 20941507
    • Domagala P, Huzarski T, Lubinski J, Gugala K, DomagalaW. Immunophenotypic predictive profiling of BRCA1-associated breast cancer. Virchows Arch. 2011; 458: 55-64doi:10.1007/s00428-010-0988-3 PMID: 20941507.
    • (2011) Virchows Arch. , vol.458 , pp. 55-64
    • Domagala, P.1    Huzarski, T.2    Lubinski, J.3    Gugala, K.4    Domagala, W.5
  • 4
    • 84901617612 scopus 로고    scopus 로고
    • Germline BRCA mutation evaluation in a prospective triple-negative breast cancer registry: Implications for hereditary breast and/or ovarian cancer syndrome testing
    • PMID: 24807107
    • Sharma P, Klemp JR, Kimler BF, Mahnken JD, Geier LJ, Khan QJ, et al. Germline BRCA mutation evaluation in a prospective triple-negative breast cancer registry: Implications for hereditary breast and/or ovarian cancer syndrome testing. Breast Cancer Res Treat. 2014; 145: 707-714. doi:10.1007/s10549-014-2980-0 PMID: 24807107.
    • (2014) Breast Cancer Res Treat , vol.145 , pp. 707-714
    • Sharma, P.1    Klemp, J.R.2    Kimler, B.F.3    Mahnken, J.D.4    Geier, L.J.5    Khan, Q.J.6
  • 5
    • 84894457154 scopus 로고    scopus 로고
    • Etiology of familial breast cancer with undetected BRCA1 and BRCA2 mutations: Clinical implications
    • Yiannakopoulou E. Etiology of familial breast cancer with undetected BRCA1 and BRCA2 mutations: Clinical implications. Cell Oncol (Dordr). 2014; 37: 1-8.
    • (2014) Cell Oncol (Dordr) , vol.37 , pp. 1-8
    • Yiannakopoulou, E.1
  • 6
    • 70350504453 scopus 로고    scopus 로고
    • The DNA-damage response in human biology and disease
    • PMID: 19847258
    • Jackson SP, Bartek J. The DNA-damage response in human biology and disease. Nature. 2009; 461: 1071-1078. doi:10.1038/nature08467 PMID: 19847258.
    • (2009) Nature , vol.461 , pp. 1071-1078
    • Jackson, S.P.1    Bartek, J.2
  • 7
    • 84905251990 scopus 로고    scopus 로고
    • Inhibition of poly(ADP-ribosyl)ation in cancer: Old and new paradigms revisited
    • PMID: 25026313
    • Lupo B, Trusolino L. Inhibition of poly(ADP-ribosyl)ation in cancer: Old and new paradigms revisited. Biochim Biophys Acta. 2014; 1846: 201-215. doi:10.1016/j.bbcan.2014.07.004 PMID: 25026313.
    • (2014) Biochim Biophys Acta , vol.1846 , pp. 201-215
    • Lupo, B.1    Trusolino, L.2
  • 8
    • 77957760669 scopus 로고    scopus 로고
    • Cooperation of breast cancer proteins PALB2 and piccolo BRCA2 in stimulating homologous recombination
    • PMID: 20871615
    • Buisson R, Dion-Cote AM, Coulombe Y, Launay H, Cai H, Stasiak AZ, et al. Cooperation of breast cancer proteins PALB2 and piccolo BRCA2 in stimulating homologous recombination. Nat Struct Mol Biol. 2010; 17: 1247-1254. doi:10.1038/nsmb.1915 PMID: 20871615.
    • (2010) Nat Struct Mol Biol. , vol.17 , pp. 1247-1254
    • Buisson, R.1    Dion-Cote, A.M.2    Coulombe, Y.3    Launay, H.4    Cai, H.5    Stasiak, A.Z.6
  • 9
    • 84904268074 scopus 로고    scopus 로고
    • A rare polymorphic variant of NBS1 reduces DNA repair activity and elevates chromosomal instability
    • PMID: 24830725
    • Yamamoto Y, Miyamoto M, Tatsuda D, Kubo M, Nakagama H, Nakamura Y, et al. A rare polymorphic variant of NBS1 reduces DNA repair activity and elevates chromosomal instability. Cancer Res. 2014; 74: 3707-3715. doi:10.1158/0008-5472.CAN-13-3037 PMID: 24830725.
    • (2014) Cancer Res. , vol.74 , pp. 3707-3715
    • Yamamoto, Y.1    Miyamoto, M.2    Tatsuda, D.3    Kubo, M.4    Nakagama, H.5    Nakamura, Y.6
  • 10
    • 77954579781 scopus 로고    scopus 로고
    • Testing for CHEK2 in the cancer genetics clinic: Ready for prime time?
    • PMID: 21175597
    • Narod SA. Testing for CHEK2 in the cancer genetics clinic: Ready for prime time? Clin Genet. 2010; 78: 1-7. doi:10.1111/j.1399-0004.2010.01583.x PMID: 21175597.
    • (2010) Clin Genet. , vol.78 , pp. 1-7
    • Narod, S.A.1
  • 12
    • 29944434644 scopus 로고    scopus 로고
    • Multifactorial contributions to an acute DNA damage response by BRCA1/BARD1-containing complexes
    • PMID: 16391231
    • Greenberg RA, Sobhian B, Pathania S, Cantor SB, Nakatani Y, Livingston DM. Multifactorial contributions to an acute DNA damage response by BRCA1/BARD1-containing complexes. Genes Dev. 2006; 20: 34-46. PMID: 16391231.
    • (2006) Genes Dev , vol.20 , pp. 34-46
    • Greenberg, R.A.1    Sobhian, B.2    Pathania, S.3    Cantor, S.B.4    Nakatani, Y.5    Livingston, D.M.6
  • 13
    • 84864314189 scopus 로고    scopus 로고
    • A Finnish founder mutation in RAD51D: Analysis in breast, ovarian, prostate, and colorectal cancer
    • PMID: 22652533
    • Pelttari LM, Kiiski J, Nurminen R, Kallioniemi A, Schleutker J, Gylfe A, et al. A Finnish founder mutation in RAD51D: Analysis in breast, ovarian, prostate, and colorectal cancer. J Med Genet. 2012; 49: 429-432. doi:10.1136/jmedgenet-2012-100852 PMID: 22652533.
    • (2012) J Med Genet. , vol.49 , pp. 429-432
    • Pelttari, L.M.1    Kiiski, J.2    Nurminen, R.3    Kallioniemi, A.4    Schleutker, J.5    Gylfe, A.6
  • 14
    • 33748065304 scopus 로고    scopus 로고
    • Deficiency in the repair of DNA damage by homologous recombination and sensitivity to poly(ADP-ribose) polymerase inhibition
    • PMID: 16912188
    • McCabe N, Turner NC, Lord CJ, Kluzek K, Bialkowska A, Swift S, et al. Deficiency in the repair of DNA damage by homologous recombination and sensitivity to poly(ADP-ribose) polymerase inhibition. Cancer Res. 2006; 66: 8109-8115. PMID: 16912188.
    • (2006) Cancer Res , vol.66 , pp. 8109-8115
    • McCabe, N.1    Turner, N.C.2    Lord, C.J.3    Kluzek, K.4    Bialkowska, A.5    Swift, S.6
  • 15
    • 84865166700 scopus 로고    scopus 로고
    • Different CHEK2 germline mutations are associated with distinct immunophenotypic molecular subtypes of breast cancer
    • PMID: 21701879
    • Domagala P, Wokolorczyk D, Cybulski C, Huzarski T, Lubinski J, Domagala W. Different CHEK2 germline mutations are associated with distinct immunophenotypic molecular subtypes of breast cancer. Breast Cancer Res Treat. 2012; 132: 937-945. doi:10.1007/s10549-011-1635-7 PMID: 21701879.
    • (2012) Breast Cancer Res Treat , vol.132 , pp. 937-945
    • Domagala, P.1    Wokolorczyk, D.2    Cybulski, C.3    Huzarski, T.4    Lubinski, J.5    Domagala, W.6
  • 18
  • 20
    • 70349912565 scopus 로고    scopus 로고
    • A nonsense mutation (E1978X) in the ATM gene is associated with breast cancer
    • PMID: 18807267
    • Bogdanova N, Cybulski C, Bermisheva M, Datsyuk I, Yamini P, Hillemanns P, et al. A nonsense mutation (E1978X) in the ATM gene is associated with breast cancer. Breast Cancer Res Treat. 2009; 118: 207-211. doi:10.1007/s10549-008-0189-9 PMID: 18807267.
    • (2009) Breast Cancer Res Treat , vol.118 , pp. 207-211
    • Bogdanova, N.1    Cybulski, C.2    Bermisheva, M.3    Datsyuk, I.4    Yamini, P.5    Hillemanns, P.6
  • 24
    • 58849115514 scopus 로고    scopus 로고
    • Genetic contribution to all cancers: The first demonstration using the model of breast cancers from Poland stratified by age at diagnosis and tumour pathology
    • PMID: 18415014
    • Lubinski J, Korzen M, Gorski B, Cybulski C, Debniak T, Jakubowska A, et al. Genetic contribution to all cancers: The first demonstration using the model of breast cancers from Poland stratified by age at diagnosis and tumour pathology. Breast Cancer Res Treat. 2009; 114: 121-126. doi:10.1007/s10549-008-9974-8 PMID: 18415014.
    • (2009) Breast Cancer Res Treat , vol.114 , pp. 121-126
    • Lubinski, J.1    Korzen, M.2    Gorski, B.3    Cybulski, C.4    Debniak, T.5    Jakubowska, A.6
  • 25
    • 84878427286 scopus 로고    scopus 로고
    • The effect of CHEK2 variant I157T on cancer susceptibility: Evidence from a meta-analysis
    • PMID: 23713947
    • Han FF, Guo CL, Liu LH. The effect of CHEK2 variant I157T on cancer susceptibility: Evidence from a meta-analysis. DNA Cell Biol. 2013; 32: 329-335. doi:10.1089/dna.2013.1970 PMID: 23713947.
    • (2013) DNA Cell Biol , vol.32 , pp. 329-335
    • Han, F.F.1    Guo, C.L.2    Liu, L.H.3
  • 26
    • 84888599972 scopus 로고    scopus 로고
    • Functional variants in NBS1 and cancer risk: Evidence from a meta-analysis of 60 publications with 111 individual studies
    • PMID: 24113799
    • Gao P, Ma N, Li M, Tian QB, Liu DW. Functional variants in NBS1 and cancer risk: Evidence from a meta-analysis of 60 publications with 111 individual studies. Mutagenesis. 2013; 28: 683-697. doi:10.1093/mutage/get048 PMID: 24113799.
    • (2013) Mutagenesis , vol.28 , pp. 683-697
    • Gao, P.1    Ma, N.2    Li, M.3    Tian, Q.B.4    Liu, D.W.5
  • 27
    • 84861747135 scopus 로고    scopus 로고
    • Response to DNA damage of CHEK2 missense mutations in familial breast cancer
    • PMID: 22419737
    • Roeb W, Higgins J, King MC. Response to DNA damage of CHEK2 missense mutations in familial breast cancer. Hum Mol Genet. 2012; 21: 2738-2744. doi:10.1093/hmg/dds101 PMID: 22419737.
    • (2012) Hum Mol Genet , vol.21 , pp. 2738-2744
    • Roeb, W.1    Higgins, J.2    King, M.C.3
  • 28
    • 33847227378 scopus 로고    scopus 로고
    • A recurrent mutation in PALB2 in Finnish cancer families
    • PMID: 17287723
    • Erkko H, Xia B, Nikkila J, Schleutker J, Syrjakoski K, Mannermaa A, et al. A recurrent mutation in PALB2 in Finnish cancer families. Nature. 2007; 446: 316-319. PMID: 17287723.
    • (2007) Nature , vol.446 , pp. 316-319
    • Erkko, H.1    Xia, B.2    Nikkila, J.3    Schleutker, J.4    Syrjakoski, K.5    Mannermaa, A.6
  • 29
  • 30
    • 84858774472 scopus 로고    scopus 로고
    • The ups and downs of DNA repair biomarkers for PARP inhibitor therapies
    • PMID: 21968427
    • Wang X, Weaver DT. The ups and downs of DNA repair biomarkers for PARP inhibitor therapies. Am J Cancer Res. 2011; 1: 301-327. PMID: 21968427.
    • (2011) Am J Cancer Res , vol.1 , pp. 301-327
    • Wang, X.1    Weaver, D.T.2
  • 31
    • 49249119415 scopus 로고    scopus 로고
    • A synthetic lethal therapeutic approach: Poly(ADP) ribose polymerase inhibitors for the treatment of cancers deficient in DNA double-strand break repair
    • PMID: 18591545
    • Ashworth A. A synthetic lethal therapeutic approach: Poly(ADP) ribose polymerase inhibitors for the treatment of cancers deficient in DNA double-strand break repair. J Clin Oncol. 2008; 26: 3785-3790. doi:10.1200/JCO.2008.16.0812 PMID: 18591545.
    • (2008) J Clin Oncol. , vol.26 , pp. 3785-3790
    • Ashworth, A.1
  • 32
    • 0033213392 scopus 로고    scopus 로고
    • Brca1 controls homology-directed DNA repair
    • PMID: 10549283
    • Moynahan ME, Chiu JW, Koller BH, Jasin M. Brca1 controls homology-directed DNA repair. Mol Cell. 1999; 4: 511-518. PMID: 10549283.
    • (1999) Mol Cell. , vol.4 , pp. 511-518
    • Moynahan, M.E.1    Chiu, J.W.2    Koller, B.H.3    Jasin, M.4
  • 33
    • 84929992639 scopus 로고    scopus 로고
    • Pathologic complete response to neoadjuvant cisplatin in BRCA1-positive breast cancer patients
    • PMID: 25129345
    • Byrski T, Huzarski T, Dent R, Marczyk E, Jasiowka M, Gronwald J, et al. Pathologic complete response to neoadjuvant cisplatin in BRCA1-positive breast cancer patients. Breast Cancer Res Treat. 2014; 147: 401-405. doi:10.1007/s10549-014-3100-x PMID: 25129345.
    • (2014) Breast Cancer Res Treat , vol.147 , pp. 401-405
    • Byrski, T.1    Huzarski, T.2    Dent, R.3    Marczyk, E.4    Jasiowka, M.5    Gronwald, J.6
  • 34
    • 84890247728 scopus 로고    scopus 로고
    • Risk of having BRCA1 mutation in high-risk women with triplenegative breast cancer: A meta-analysis
    • PMID: 24000781
    • Tun NM, Villani G, Ong K, Yoe L, Bo ZM. Risk of having BRCA1 mutation in high-risk women with triplenegative breast cancer: A meta-analysis. Clin Genet. 2014; 85: 43-48. doi:10.1111/cge.12270 PMID: 24000781.
    • (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
  • 35
    • 84861323251 scopus 로고    scopus 로고
    • Prevalence of BRCA mutations in an unselected population of triple-negative breast cancer
    • Hartman AR, Kaldate RR, Sailer LM, Painter L, Grier CE, Endsley RR, et al. Prevalence of BRCA mutations in an unselected population of triple-negative breast cancer. Cancer. 2012; 118: 2787-2795. doi:10.1002/cncr.26576PMID:22614657.
    • (2012) Cancer , vol.118 , pp. 2787-2795
    • Hartman, A.R.1    Kaldate, R.R.2    Sailer, L.M.3    Painter, L.4    Grier, C.E.5    Endsley, R.R.6
  • 36
    • 84868136807 scopus 로고    scopus 로고
    • Mutation analysis of BRCA1, BRCA2, PALB2 and BRD7 in a hospital-based series of German patients with triple-negative breast cancer
    • PMID: 23110154
    • Pern F, Bogdanova N, Schurmann P, Lin M, Ay A, Langer F, et al. Mutation analysis of BRCA1, BRCA2, PALB2 and BRD7 in a hospital-based series of german patients with triple-negative breast cancer. PLoS One. 2012; 7: E47993. doi:10.1371/journal.pone.0047993 PMID: 23110154.
    • (2012) PLoS One. , vol.7 , pp. e47993
    • Pern, F.1    Bogdanova, N.2    Schurmann, P.3    Lin, M.4    Ay, A.5    Langer, F.6
  • 37
    • 79952253747 scopus 로고    scopus 로고
    • Incidence and outcome of BRCA mutations in unselected patients with triple receptor-negative breast cancer
    • PMID: 21233401
    • Gonzalez-Angulo AM, Timms KM, Liu S, Chen H, Litton JK, Potter J, et al. Incidence and outcome of BRCA mutations in unselected patients with triple receptor-negative breast cancer. Clin Cancer Res. 2011; 17: 1082-1089. doi:10.1158/1078-0432.CCR-10-2560 PMID: 21233401.
    • (2011) Clin Cancer Res. , vol.17 , pp. 1082-1089
    • Gonzalez-Angulo, A.M.1    Timms, K.M.2    Liu, S.3    Chen, H.4    Litton, J.K.5    Potter, J.6
  • 38
    • 2942572799 scopus 로고    scopus 로고
    • A high proportion of founder BRCA1 mutations in Polish breast cancer families
    • PMID: 15146557
    • Gorski B, Jakubowska A, Huzarski T, Byrski T, Gronwald J, Grzybowska E, et al. A high proportion of founder BRCA1 mutations in Polish breast cancer families. Int J Cancer. 2004; 110: 683-686. PMID: 15146557.
    • (2004) Int J Cancer , vol.110 , pp. 683-686
    • Gorski, B.1    Jakubowska, A.2    Huzarski, T.3    Byrski, T.4    Gronwald, J.5    Grzybowska, E.6
  • 39
    • 0037405813 scopus 로고    scopus 로고
    • BRCA1 and BRCA2 mutation analysis in breast-ovarian cancer families from Northeastern Poland
    • PMID: 12673802
    • Perkowska M, BroZek I, Wysocka B, Haraldsson K, Sandberg T, Johansson U, et al. BRCA1 and BRCA2 mutation analysis in breast-ovarian cancer families from Northeastern Poland. Hum Mutat. 2003; 21: 553-554. PMID: 12673802.
    • (2003) Hum Mutat , vol.21 , pp. 553-554
    • Perkowska, M.1    BroZek, I.2    Wysocka, B.3    Haraldsson, K.4    Sandberg, T.5    Johansson, U.6
  • 41
    • 79953086387 scopus 로고    scopus 로고
    • Founder BRCA1/2 mutations in the Europe: Implications for hereditary breastovarian cancer prevention and control
    • PMID: 23199084
    • Janavicius R. Founder BRCA1/2 mutations in the Europe: Implications for hereditary breastovarian cancer prevention and control. EPMA J. 2010; 1: 397-412. doi:10.1007/s13167-010-0037-y PMID: 23199084.
    • (2010) EPMA J , vol.1 , pp. 397-412
    • Janavicius, R.1
  • 42
    • 79960078862 scopus 로고    scopus 로고
    • Prevalence of the most frequent BRCA1 mutations in Polish population
    • PMID: 21503673
    • Brozek I, Cybulska C, Ratajska M, Piatkowska M, Kluska A, Balabas A, et al. Prevalence of the most frequent BRCA1 mutations in Polish population. J Appl Genet. 2011; 52: 325-330. doi:10.1007/s13353-011-0040-6 PMID: 21503673.
    • (2011) J Appl Genet , vol.52 , pp. 325-330
    • BroZek, I.1    Cybulska, C.2    Ratajska, M.3    Piatkowska, M.4    Kluska, A.5    Balabas, A.6
  • 43
    • 49749090418 scopus 로고    scopus 로고
    • Molecular and in silico analysis of BRCA1 and BRCA2 variants
    • PMID: 18694767
    • Tommasi S, Pilato B, Pinto R, Monaco A, Bruno M, Campana M, et al. Molecular and in silico analysis of BRCA1 and BRCA2 variants. Mutat Res. 2008; 644: 64-70. doi:10.1016/j.mrfmmm.2008.07.005 PMID: 18694767.
    • (2008) Mutat Res , vol.644 , pp. 64-70
    • Tommasi, S.1    Pilato, B.2    Pinto, R.3    Monaco, A.4    Bruno, M.5    Campana, M.6
  • 44
    • 74849096857 scopus 로고    scopus 로고
    • Characterization of BRCA1 ring finger variants of uncertain significance
    • PMID: 19543972
    • Sweet K, Senter L, Pilarski R, Wei L, Toland AE. Characterization of BRCA1 ring finger variants of uncertain significance. Breast Cancer Res Treat. 2010; 119: 737-743. doi:10.1007/s10549-009-0438-6PMID: 19543972.
    • (2010) Breast Cancer Res Treat , vol.119 , pp. 737-743
    • Sweet, K.1    Senter, L.2    Pilarski, R.3    Wei, L.4    Toland, A.E.5
  • 45
    • 76249131820 scopus 로고    scopus 로고
    • Identification of breast tumor mutations in BRCA1 that abolish its function in homologous DNA recombination
    • PMID: 20103620
    • Ransburgh DJ, Chiba N, Ishioka C, Toland AE, Parvin JD. Identification of breast tumor mutations in BRCA1 that abolish its function in homologous DNA recombination. Cancer Res. 2010; 70: 988-995. doi: 10.1158/0008-5472.CAN-09-2850 PMID: 20103620.
    • Cancer Res , vol.70 , pp. 988-995
    • Ransburgh, D.J.1    Chiba, N.2    Ishioka, C.3    Toland, A.E.4    Parvin, J.D.5
  • 46
    • 33845953365 scopus 로고    scopus 로고
    • BRCA2 mutationassociated breast cancers exhibit a distinguishing phenotype based on morphology and molecular profiles from tissue microarrays
    • PMID: 17197928
    • Bane AL, Beck JC, Bleiweiss I, Buys SS, Catalano E, Daly MB, et al. BRCA2 mutationassociated breast cancers exhibit a distinguishing phenotype based on morphology and molecular profiles from tissue microarrays. Am J Surg Pathol. 2007; 31: 121-128. PMID: 17197928.
    • (2007) Am J Surg Pathol , vol.31 , pp. 121-128
    • Bane, A.L.1    Beck, J.C.2    Bleiweiss, I.3    Buys, S.S.4    Catalano, E.5    Daly, M.B.6
  • 47
    • 84893470371 scopus 로고    scopus 로고
    • Germline and somatic mutations in homologous recombination genes predict platinum response and survival in ovarian, fallopian tube, and peritoneal carcinomas
    • PMID: 24240112
    • Pennington KP, Walsh T, Harrell MI, Lee MK, Pennil CC, Rendi MH, et al. Germline and somatic mutations in homologous recombination genes predict platinum response and survival in ovarian, fallopian tube, and peritoneal carcinomas. Clin Cancer Res. 2014; 20: 764-775. doi10.1158/1078-0432.CCR-13-2287 PMID: 24240112.
    • (2014) Clin Cancer Res , vol.20 , pp. 764-775
    • Pennington, K.P.1    Walsh, T.2    Harrell, M.I.3    Lee, M.K.4    Pennil, C.C.5    Rendi, M.H.6
  • 49
    • 33745225487 scopus 로고    scopus 로고
    • Germline mutations 657del5 of the NBS1 gene contribute significantly to the incidence of breast cancer in Central Poland
    • PMID: 16770759
    • Steffen J, Nowakowska D, Niwinska A, Czapczak D, Kluska A, Piatkowska M, et al. Germline mutations 657del5 of the NBS1 gene contribute significantly to the incidence of breast cancer in Central Poland. Int J Cancer. 2006; 119: 472-475. PMID: 16770759.
    • (2006) Int J Cancer , vol.119 , pp. 472-475
    • Steffen, J.1    Nowakowska, D.2    Niwinska, A.3    Czapczak, D.4    Kluska, A.5    Piatkowska, M.6
  • 52
    • 0032076190 scopus 로고    scopus 로고
    • Nibrin, a novel DNA double-strand break repair protein, is mutated in nijmegen breakage syndrome
    • PMID: 9590180
    • Varon R, Vissinga C, Platzer M, Cerosaletti KM, Chrzanowska KH, Saar K, et al. Nibrin, a novel DNA double-strand break repair protein, is mutated in nijmegen breakage syndrome. Cell. 1998; 93: 467-476. PMID: 9590180.
    • (1998) Cell , vol.93 , pp. 467-476
    • Varon, R.1    Vissinga, C.2    Platzer, M.3    Cerosaletti, K.M.4    Chrzanowska, K.H.5    Saar, K.6
  • 53
    • 84859248021 scopus 로고    scopus 로고
    • DNA damage in nijmegen breakage syndrome cells leads to PARP hyperactivation and increased oxidative stress
    • PMID: 22396666
    • Krenzlin H, Demuth I, Salewsky B, Wessendorf P, Weidele K, Burkle A, et al. DNA damage in nijmegen breakage syndrome cells leads to PARP hyperactivation and increased oxidative stress. PLoS Genet. 2012; 8: E1002557. doi:10.1371/journal.pgen.1002557 PMID: 22396666.
    • (2012) PLoS Genet , vol.8 , pp. e1002557
    • Krenzlin, H.1    Demuth, I.2    Salewsky, B.3    Wessendorf, P.4    Weidele, K.5    Burkle, A.6
  • 54
    • 80355131376 scopus 로고    scopus 로고
    • Functional characterization connects individual patient mutations in ataxia telangiectasia mutated (ATM) with dysfunction of specific DNA double-strand break-repair signaling pathways
    • PMID: 21778326
    • Keimling M, Volcic M, Csernok A, Wieland B, Dork T, Wiesmuller L. Functional characterization connects individual patient mutations in ataxia telangiectasia mutated (ATM) with dysfunction of specific DNA double-strand break-repair signaling pathways. FASEB J. 2011; 25: 3849-3860doi:10.1096/fj.11-185546PMID: 21778326.
    • (2011) FASEB J. , vol.25 , pp. 3849-3860
    • Keimling, M.1    Volcic, M.2    Csernok, A.3    Wieland, B.4    Dork, T.5    Wiesmuller, L.6
  • 55
    • 76649091939 scopus 로고    scopus 로고
    • ATM deficiency sensitizes mantle cell lymphoma cells to poly(ADP-ribose) polymerase-1 inhibitors
    • PMID: 20124459
    • Williamson CT, Muzik H, Turhan AG, Zamo A, O'Connor MJ, Bebb DG, et al. ATM deficiency sensitizes mantle cell lymphoma cells to poly(ADP-ribose) polymerase-1 inhibitors. Mol Cancer Ther. 2010; 9: 347-357. doi:10.1158/1535-7163.MCT-09-0872 PMID: 20124459.
    • (2010) Mol Cancer Ther. , vol.9 , pp. 347-357
    • Williamson, C.T.1    Muzik, H.2    Turhan, A.G.3    Zamo, A.4    O'Connor, M.J.5    Bebb, D.G.6
  • 56
    • 0346095320 scopus 로고    scopus 로고
    • Chk2 phosphorylation of BRCA1 regulates DNA double-strand break repair
    • PMID: 14701743
    • Zhang J, Willers H, Feng Z, Ghosh JC, Kim S, Weaver DT, et al. Chk2 phosphorylation of BRCA1 regulates DNA double-strand break repair. Mol Cell Biol. 2004; 24: 708-718. PMID: 14701743.
    • (2004) Mol Cell Biol , vol.24 , pp. 708-718
    • Zhang, J.1    Willers, H.2    Feng, Z.3    Ghosh, J.C.4    Kim, S.5    Weaver, D.T.6
  • 57
    • 79551698938 scopus 로고    scopus 로고
    • Tumor suppressor CHK2: Regulator of DNA damage response and mediator of chromosomal stability
    • PMID: 21088254
    • Stolz A, Ertych N, Bastians H. Tumor suppressor CHK2: Regulator of DNA damage response and mediator of chromosomal stability. Clin Cancer Res. 2011; 17: 401-405. doi:10.1158/1078-0432.CCR-10-1215 PMID: 21088254.
    • (2011) Clin Cancer Res , vol.17 , pp. 401-405
    • Stolz, A.1    Ertych, N.2    Bastians, H.3
  • 58
    • 84912016648 scopus 로고    scopus 로고
    • Breast cancer sensitivity to neoadjuvant therapy in BRCA1 and CHEK2 mutation carriers and non-carriers
    • PMID: 25414026
    • Pfeifer W, Sokolenko AP, Potapova ON, Bessonov AA, Ivantsov AO, Laptiev SA, et al. Breast cancer sensitivity to neoadjuvant therapy in BRCA1 and CHEK2 mutation carriers and non-carriers. Breast Cancer Res Treat. 2014; 148: 675-683. doi:10.1007/s10549-014-3206-1 PMID: 25414026.
    • (2014) Breast Cancer Res Treat , vol.148 , pp. 675-683
    • Pfeifer, W.1    Sokolenko, A.P.2    Potapova, O.N.3    Bessonov, A.A.4    Ivantsov, A.O.5    Laptiev, S.A.6
  • 59
    • 84899789619 scopus 로고    scopus 로고
    • Growing recognition of the role for rare missense substitutions in breast cancer susceptibility
    • PMID: 24796624
    • Tavtigian SV, Chenevix-Trench G. Growing recognition of the role for rare missense substitutions in breast cancer susceptibility. Biomark Med. 2014; 8: 589-603. doi:10.2217/bmm.13.143 PMID: 24796624.
    • (2014) Biomark Med. , vol.8 , pp. 589-603
    • Tavtigian, S.V.1    Chenevix-Trench, G.2
  • 60
    • 84902072358 scopus 로고    scopus 로고
    • Functional deficiency of NBN, the nijmegen breakage syndrome protein, in a p.R215W mutant breast cancer cell line
    • PMID: 24928521
    • Schroder-Heurich B, Bogdanova N, Wieland B, Xie X, Noskowicz M, Park-Simon TW, et al. Functional deficiency of NBN, the nijmegen breakage syndrome protein, in a p.R215W mutant breast cancer cell line. BMC Cancer. 2014; 14: 434. doi:10.1186/1471-2407-14-434 PMID: 24928521.
    • (2014) BMC Cancer , vol.14 , pp. 434
    • Schroder-Heurich, B.1    Bogdanova, N.2    Wieland, B.3    Xie, X.4    Noskowicz, M.5    Park-Simon, T.W.6
  • 61
    • 84860491192 scopus 로고    scopus 로고
    • Hereditary breast cancer: Beyond BRCA genetic analysis; PALB2 emerges
    • PMID: 22505525
    • Poumpouridou N, Kroupis C. Hereditary breast cancer: Beyond BRCA genetic analysis; PALB2 emerges. Clin Chem Lab Med. 2011; 50: 423-434. doi:10.1515/cclm-2011-0840 PMID: 22505525.
    • (2011) Clin Chem Lab Med. , vol.50 , pp. 423-434
    • Poumpouridou, N.1    Kroupis, C.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.