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Volumn 6, Issue 11, 2016, Pages 1267-1275

A recurrent ERCC3 truncating mutation confers moderate risk for breast cancer

(30)  Vijai, Joseph a   Topka, Sabine a   Villano, Danylo a   Ravichandran, Vignesh a   Maxwell, Kara N b   Maria, Ann a   Thomas, Tinu a   Gaddam, Pragna a   Lincoln, Anne a   Kazzaz, Sarah a   Wenz, Brandon b   Carmi, Shai c   Schrader, Kasmintan A d   Hart, Steven N e   Lipkin, Steve M f   Neuhausen, Susan L g   Walsh, Michael F a   Zhang, Liying a   Lejbkowicz, Flavio h   Rennert, Hedy h   more..


Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; BREAST CANCER; BREAST EPITHELIUM CELL; CANCER RISK; CELL REACTIVATION ASSAY; CELL VIABILITY ASSAY; CLINICAL ARTICLE; COMPLEMENTATION ASSAY; CONTROLLED STUDY; CRISPR CAS SYSTEM; DIAGNOSTIC PROCEDURE; DNA DAMAGE; DNA REPAIR; ERCC3 GENE; FEMALE; FLOW CYTOMETRY; GENE; GENE MUTATION; GENETIC TRANSFECTION; GENOTYPE; HAPLOTYPE; HEREDITY; HUMAN; NEXT GENERATION SEQUENCING; PHENOTYPE; PLASMID; REAL TIME POLYMERASE CHAIN REACTION; RECURRENT MUTATION; SEQUENCE ANALYSIS; ULTRAVIOLET C RADIATION; WESTERN BLOTTING; AGED; BREAST NEOPLASMS; GENETICS; JEW; MIDDLE AGED; MUTATION; PATHOLOGY; RISK FACTOR;

EID: 84995422380     PISSN: 21598274     EISSN: 21598290     Source Type: Journal    
DOI: 10.1158/2159-8290.CD-16-0487     Document Type: Article
Times cited : (42)

References (37)
  • 1
    • 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
  • 3
    • 84930926883 scopus 로고    scopus 로고
    • Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer
    • Michailidou K, Beesley J, Lindstrom S, Canisius S, Dennis J, Lush MJ, et al. Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer. Nat Genet 2015; 47: 373-80.
    • (2015) Nat Genet , vol.47 , pp. 373-380
    • Michailidou, K.1    Beesley, J.2    Lindstrom, S.3    Canisius, S.4    Dennis, J.5    Lush, M.J.6
  • 4
    • 10944257674 scopus 로고    scopus 로고
    • Crosslinks and crosstalk: Human cancer syndromes and DNA repair defects
    • Risinger MA, Groden J. Crosslinks and crosstalk: human cancer syndromes and DNA repair defects. Cancer Cell 2004; 6: 539-45.
    • (2004) Cancer Cell , vol.6 , pp. 539-545
    • Risinger, M.A.1    Groden, J.2
  • 5
    • 84881145018 scopus 로고    scopus 로고
    • DNA helicases involved in DNA repair and their roles in cancer
    • Brosh RM Jr. DNA helicases involved in DNA repair and their roles in cancer. Nat Rev Cancer 2013; 13: 542-58.
    • (2013) Nat Rev Cancer , vol.13 , pp. 542-558
    • Brosh Jr, R.M.1
  • 6
    • 84884592445 scopus 로고    scopus 로고
    • Genic intolerance to functional variation and the interpretation of personal genomes
    • Petrovski S, Wang Q, Heinzen EL, Allen AS, Goldstein DB. Genic intolerance to functional variation and the interpretation of personal genomes. PLoS Genet 2013; 9: e1003709.
    • (2013) PLoS Genet , vol.9
    • Petrovski, S.1    Wang, Q.2    Heinzen, E.L.3    Allen, A.S.4    Goldstein, D.B.5
  • 7
    • 0028085120 scopus 로고
    • Clinical heterogeneity within xeroderma pigmentosum associated with mutations in the DNA repair and transcription gene ERCC3
    • Vermeulen W, Scott RJ, Rodgers S, Muller HJ, Cole J, Arlett CF, et al. Clinical heterogeneity within xeroderma pigmentosum associated with mutations in the DNA repair and transcription gene ERCC3. Am J Hum Genet 1994; 54: 191-200.
    • (1994) Am J Hum Genet , vol.54 , pp. 191-200
    • Vermeulen, W.1    Scott, R.J.2    Rodgers, S.3    Muller, H.J.4    Cole, J.5    Arlett, C.F.6
  • 8
    • 0027080566 scopus 로고
    • Structure-Activity-Relationships of Illudins-Analogs with Improved Therapeutic Index
    • McMorris TC, Kelner MJ, Wang W, Estes LA, Montoya MA, Taetle R. Structure-Activity-Relationships of Illudins-Analogs with Improved Therapeutic Index. J Org Chem 1992; 57: 6876-83.
    • (1992) J Org Chem , vol.57 , pp. 6876-6883
    • McMorris, T.C.1    Kelner, M.J.2    Wang, W.3    Estes, L.A.4    Montoya, M.A.5    Taetle, R.6
  • 9
    • 33745607326 scopus 로고    scopus 로고
    • H2AX phosphorylation within the G1 phase after UV irradiation depends on nucleotide excision repair and not DNA double-strand breaks
    • Marti TM, Hefner E, Feeney L, Natale V, Cleaver JE. H2AX phosphorylation within the G1 phase after UV irradiation depends on nucleotide excision repair and not DNA double-strand breaks. Proc Natl Acad Sci USA 2006; 103: 9891-6.
    • (2006) Proc Natl Acad Sci USA , vol.103 , pp. 9891-9896
    • Marti, T.M.1    Hefner, E.2    Feeney, L.3    Natale, V.4    Cleaver, J.E.5
  • 10
    • 84917712273 scopus 로고    scopus 로고
    • Sequencing an Ashkenazi reference panel supports population-targeted personal genomics and illuminates Jewish and European origins
    • Carmi S, Hui KY, Kochav E, Liu X, Xue J, Grady F, et al. Sequencing an Ashkenazi reference panel supports population-targeted personal genomics and illuminates Jewish and European origins. Nat Commun 2014; 5: 4835.
    • (2014) Nat Commun , vol.5 , pp. 4835
    • Carmi, S.1    Hui, K.Y.2    Kochav, E.3    Liu, X.4    Xue, J.5    Grady, F.6
  • 12
    • 33750922149 scopus 로고    scopus 로고
    • Phenotypic heterogeneity in the XPB DNA helicase gene (ERCC3): Xeroderma pigmentosum without and with Cockayne syndrome
    • Oh K-S, Khan SG, Jaspers NGJ, Raams A, Ueda T, Lehmann A, et al. Phenotypic heterogeneity in the XPB DNA helicase gene (ERCC3): xeroderma pigmentosum without and with Cockayne syndrome. Hum Mut 2006; 27: 1092-103.
    • (2006) Hum Mut , vol.27 , pp. 1092-1103
    • Oh, K.-S.1    Khan, S.G.2    Jaspers, N.G.J.3    Raams, A.4    Ueda, T.5    Lehmann, A.6
  • 13
    • 84925139941 scopus 로고    scopus 로고
    • TFIIH subunit alterations causing xeroderma pigmentosum and trichothiodystrophy specifi-cally disturb several steps during transcription
    • Singh A, Compe E, Le May N, Egly JM. TFIIH subunit alterations causing xeroderma pigmentosum and trichothiodystrophy specifi-cally disturb several steps during transcription. Am J Hum Genet 2015; 96: 194-207.
    • (2015) Am J Hum Genet , vol.96 , pp. 194-207
    • Singh, A.1    Compe, E.2    Le May, N.3    Egly, J.M.4
  • 14
    • 0025268280 scopus 로고
    • An increased risk for malignant neoplasms in heterozygotes for a syndrome of microcephaly, normal intelligence, growth retardation, remarkable facies, immunodeficiency and chromosomal instability
    • Seemanova E. An increased risk for malignant neoplasms in heterozygotes for a syndrome of microcephaly, normal intelligence, growth retardation, remarkable facies, immunodeficiency and chromosomal instability. Mut Res 1990; 238: 321-4.
    • (1990) Mut Res , vol.238 , pp. 321-324
    • Seemanova, E.1
  • 15
    • 0033180301 scopus 로고    scopus 로고
    • Nijmegen breakage syndrome: Consequences of defective DNA double strand break repair
    • Digweed M, Reis A, Sperling K. Nijmegen breakage syndrome: consequences of defective DNA double strand break repair. BioEssays 1999; 21: 649-56.
    • (1999) BioEssays , vol.21 , pp. 649-656
    • Digweed, M.1    Reis, A.2    Sperling, K.3
  • 16
    • 0042991379 scopus 로고    scopus 로고
    • Histone H2AX: A dosage-dependent suppressor of oncogenic translocations and tumors
    • Bassing CH, Suh H, Ferguson DO, Chua KF, Manis J, Eckersdorff M, et al. Histone H2AX: a dosage-dependent suppressor of oncogenic translocations and tumors. Cell 2003; 114: 359-70.
    • (2003) Cell , vol.114 , pp. 359-370
    • Bassing, C.H.1    Suh, H.2    Ferguson, D.O.3    Chua, K.F.4    Manis, J.5    Eckersdorff, M.6
  • 19
    • 3142552523 scopus 로고    scopus 로고
    • Chk1 is haploinsufficient for multiple functions critical to tumor suppression
    • Lam MH, Liu Q, Elledge SJ, Rosen JM. Chk1 is haploinsufficient for multiple functions critical to tumor suppression. Cancer Cell 2004; 6: 45-59.
    • (2004) Cancer Cell , vol.6 , pp. 45-59
    • Lam, M.H.1    Liu, Q.2    Elledge, S.J.3    Rosen, J.M.4
  • 20
    • 84898615020 scopus 로고    scopus 로고
    • Heterozygous mutations in PALB2 cause DNA replication and damage response defects
    • Nikkila J, Parplys AC, Pylkas K, Bose M, Huo Y, Borgmann K, et al. Heterozygous mutations in PALB2 cause DNA replication and damage response defects. Nat Commun 2013; 4: 2578.
    • (2013) Nat Commun , vol.4 , pp. 2578
    • Nikkila, J.1    Parplys, A.C.2    Pylkas, K.3    Bose, M.4    Huo, Y.5    Borgmann, K.6
  • 21
    • 61749093727 scopus 로고    scopus 로고
    • An Xpb mouse model for combined xeroderma pigmentosum and cockayne syndrome reveals progeroid features upon further attenuation of DNA repair
    • Andressoo JO, Weeda G, de Wit J, Mitchell JR, Beems RB, van Steeg H, et al. An Xpb mouse model for combined xeroderma pigmentosum and cockayne syndrome reveals progeroid features upon further attenuation of DNA repair. Mol Cell Biol 2009; 29: 1276-90.
    • (2009) Mol Cell Biol , vol.29 , pp. 1276-1290
    • Andressoo, J.O.1    Weeda, G.2    de Wit, J.3    Mitchell, J.R.4    Beems, R.B.5    van Steeg, H.6
  • 22
    • 79960341941 scopus 로고    scopus 로고
    • Premature aging and cancer in nucleotide excision repair-disorders
    • Diderich K, Alanazi M, Hoeijmakers JH. Premature aging and cancer in nucleotide excision repair-disorders. DNA Repair (Amst) 2011; 10: 772-80.
    • (2011) DNA Repair (Amst) , vol.10 , pp. 772-780
    • Diderich, K.1    Alanazi, M.2    Hoeijmakers, J.H.3
  • 23
    • 1242296809 scopus 로고    scopus 로고
    • DDB2 gene disruption leads to skin tumors and resistance to apoptosis after exposure to ultraviolet light but not a chemical carcinogen
    • Itoh T, Cado D, Kamide R, Linn S. DDB2 gene disruption leads to skin tumors and resistance to apoptosis after exposure to ultraviolet light but not a chemical carcinogen. Proc Natl Acad Sci USA 2004; 101: 2052-7.
    • (2004) Proc Natl Acad Sci USA , vol.101 , pp. 2052-2057
    • Itoh, T.1    Cado, D.2    Kamide, R.3    Linn, S.4
  • 24
    • 0034654169 scopus 로고    scopus 로고
    • Ultraviolet B radiation-induced skin cancer in mice defective in the Xpc, Trp53, and Apex (HAP1) genes: Genotype-specific effects on cancer predisposition and pathology of tumors
    • Cheo DL, Meira LB, Burns DK, Reis AM, Issac T, Friedberg E C. Ultraviolet B radiation-induced skin cancer in mice defective in the Xpc, Trp53, and Apex (HAP1) genes: genotype-specific effects on cancer predisposition and pathology of tumors. Cancer Res 2000; 60: 1580-4.
    • (2000) Cancer Res , vol.60 , pp. 1580-1584
    • Cheo, D.L.1    Meira, L.B.2    Burns, D.K.3    Reis, A.M.4    Issac, T.5    Friedberg, E.C.6
  • 26
    • 33746973285 scopus 로고    scopus 로고
    • An Xpd mouse model for the combined xeroderma pigmentosum/Cockayne syndrome exhibiting both cancer predisposition and segmental progeria
    • Andressoo JO, Mitchell JR, de Wit J, Hoogstraten D, Volker M, Toussaint W, et al. An Xpd mouse model for the combined xeroderma pigmentosum/Cockayne syndrome exhibiting both cancer predisposition and segmental progeria. Cancer Cell 2006; 10: 121-32.
    • (2006) Cancer Cell , vol.10 , pp. 121-132
    • Andressoo, J.O.1    Mitchell, J.R.2    de Wit, J.3    Hoogstraten, D.4    Volker, M.5    Toussaint, W.6
  • 27
    • 14044272193 scopus 로고    scopus 로고
    • Functional and genomic approaches reveal an ancient CHEK2 allele associated with breast cancer in the Ashkenazi Jewish population
    • Shaag A, Walsh T, Renbaum P, Kirchhoff T, Nafa K, Shiovitz S, et al. Functional and genomic approaches reveal an ancient CHEK2 allele associated with breast cancer in the Ashkenazi Jewish population. Hum Mol Genet 2005; 14: 555-63.
    • (2005) Hum Mol Genet , vol.14 , pp. 555-563
    • Shaag, A.1    Walsh, T.2    Renbaum, P.3    Kirchhoff, T.4    Nafa, K.5    Shiovitz, S.6
  • 29
    • 39149141409 scopus 로고    scopus 로고
    • CHEK2* 1100delC genotyping for clinical assessment of breast cancer risk: Meta-analyses of 26,000 patient cases and 27,000 controls
    • Weischer M, Bojesen SE, Ellervik C, Tybjaerg-Hansen A, Nordestgaard BG. CHEK2* 1100delC genotyping for clinical assessment of breast cancer risk: meta-analyses of 26,000 patient cases and 27,000 controls. J Clin Oncol 2008; 26: 542-8.
    • (2008) J Clin Oncol , vol.26 , pp. 542-548
    • Weischer, M.1    Bojesen, S.E.2    Ellervik, C.3    Tybjaerg-Hansen, A.4    Nordestgaard, B.G.5
  • 30
    • 84864511887 scopus 로고    scopus 로고
    • Association of a HOXB13 variant with breast cancer
    • Alanee S, Couch F, Offit K. Association of a HOXB13 variant with breast cancer. N Engl J Med 2012; 367: 480-1.
    • (2012) N Engl J Med , vol.367 , pp. 480-481
    • Alanee, S.1    Couch, F.2    Offit, K.3
  • 33
    • 84957932758 scopus 로고    scopus 로고
    • Hereditary cancer syndromes: Utilizing DNA repair deficiency as therapeutic target
    • Goyal G, Fan T, Silberstein PT. Hereditary cancer syndromes: utilizing DNA repair deficiency as therapeutic target. Fam Cancer 2016; 15: 359-66.
    • (2016) Fam Cancer , vol.15 , pp. 359-366
    • Goyal, G.1    Fan, T.2    Silberstein, P.T.3
  • 35
    • 84940054160 scopus 로고    scopus 로고
    • The novel ribonucleotide reductase inhibitor COH29 inhibits DNA repair in vitro
    • Chen MC, Zhou B, Zhang K, Yuan YC, Un F, Hu S, et al. The novel ribonucleotide reductase inhibitor COH29 inhibits DNA repair in vitro. Mol Pharmacol 2015; 87: 996-1005.
    • (2015) Mol Pharmacol , vol.87 , pp. 996-1005
    • Chen, M.C.1    Zhou, B.2    Zhang, K.3    Yuan, Y.C.4    Un, F.5    Hu, S.6
  • 36
    • 84870379165 scopus 로고    scopus 로고
    • Molecular pathways: Understanding the role of Rad52 in homologous recombination for therapeutic advancement
    • Lok BH, Powell SN. Molecular pathways: understanding the role of Rad52 in homologous recombination for therapeutic advancement. Clin Cancer Res 2012; 18: 6400-6.
    • (2012) Clin Cancer Res , vol.18 , pp. 6400-6406
    • Lok, B.H.1    Powell, S.N.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.