메뉴 건너뛰기




Volumn 659, Issue 3, 2008, Pages 262-273

The importance of making ends meet: Mutations in genes and altered expression of proteins of the MRN complex and cancer

Author keywords

Carcinogenesis; Double strand break repair; MRE11; NBS1; RAD50

Indexed keywords

MRE11 PROTEIN; NIBRIN; RAD50 PROTEIN;

EID: 50049099559     PISSN: 13835742     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.mrrev.2008.05.005     Document Type: Review
Times cited : (44)

References (103)
  • 1
    • 33751568508 scopus 로고    scopus 로고
    • The cellular control of DNA double-strand breaks
    • Scott S.P., and Pandita T.K. The cellular control of DNA double-strand breaks. J. Cell Biochem. 99 (2006) 1463-1475
    • (2006) J. Cell Biochem. , vol.99 , pp. 1463-1475
    • Scott, S.P.1    Pandita, T.K.2
  • 2
    • 33845604556 scopus 로고    scopus 로고
    • DNA double-strand break repair: all's well that ends well
    • Wyman C., and Kanaar R. DNA double-strand break repair: all's well that ends well. Annu. Rev. Genet. 40 (2006) 363-383
    • (2006) Annu. Rev. Genet. , vol.40 , pp. 363-383
    • Wyman, C.1    Kanaar, R.2
  • 3
    • 0142011461 scopus 로고    scopus 로고
    • The cellular response to DNA double-strand breaks: defining the sensors and mediators
    • Petrini J.H.J., and Stracker T.H. The cellular response to DNA double-strand breaks: defining the sensors and mediators. Trends Cell Biol. 13 (2003) 458-462
    • (2003) Trends Cell Biol. , vol.13 , pp. 458-462
    • Petrini, J.H.J.1    Stracker, T.H.2
  • 4
    • 13844256190 scopus 로고    scopus 로고
    • Molecular mechanism of the recruitment of NBS1/hMRE1/hRAD50 complex to DNA double-strand breaks: NBS1 binds to γ-H2AX through FHA/BRCT domain
    • Kobayashi J. Molecular mechanism of the recruitment of NBS1/hMRE1/hRAD50 complex to DNA double-strand breaks: NBS1 binds to γ-H2AX through FHA/BRCT domain. J. Radiat. Res. 45 (2004) 473-478
    • (2004) J. Radiat. Res. , vol.45 , pp. 473-478
    • Kobayashi, J.1
  • 6
    • 0036276388 scopus 로고    scopus 로고
    • The Mre11 complex: at the crossroads of DNA repair and DNA checkpoint signaling
    • D'Amours D., and Jackson S.P. The Mre11 complex: at the crossroads of DNA repair and DNA checkpoint signaling. Nat. Rev. Mol. Cell. Biol. 3 (2002) 317-327
    • (2002) Nat. Rev. Mol. Cell. Biol. , vol.3 , pp. 317-327
    • D'Amours, D.1    Jackson, S.P.2
  • 8
    • 4544333242 scopus 로고    scopus 로고
    • The Mre11 complex and ATM: a two-way functional interaction in recognising and signalling DNA double strand breaks
    • Lavin M.F. The Mre11 complex and ATM: a two-way functional interaction in recognising and signalling DNA double strand breaks. DNA Repair 3 (2004) 1515-1520
    • (2004) DNA Repair , vol.3 , pp. 1515-1520
    • Lavin, M.F.1
  • 10
    • 0142186242 scopus 로고    scopus 로고
    • The MRN complex: coordinating and mediating the response to broken chromosomes
    • van den Bosch M., Bree R.T., and Lowndes N.F. The MRN complex: coordinating and mediating the response to broken chromosomes. EMBO Rep. 4 (2003) 844-849
    • (2003) EMBO Rep. , vol.4 , pp. 844-849
    • van den Bosch, M.1    Bree, R.T.2    Lowndes, N.F.3
  • 11
    • 3242891189 scopus 로고    scopus 로고
    • The Mre11 complex and the metabolism of chromosome breaks: the importance of communicating and holding things together
    • Stracker T.H., Theunissen J.W., Morales M., and Petrini J.H. The Mre11 complex and the metabolism of chromosome breaks: the importance of communicating and holding things together. DNA Repair 3 (2004) 845-854
    • (2004) DNA Repair , vol.3 , pp. 845-854
    • Stracker, T.H.1    Theunissen, J.W.2    Morales, M.3    Petrini, J.H.4
  • 12
    • 34948899943 scopus 로고    scopus 로고
    • Mre11-Rad50-Nbs1 is a keystone complex connecting DNA repair machinery, double-strand break signaling, and the chromatin template
    • Williams R.S., Williams J.S., and Tainer J.A. Mre11-Rad50-Nbs1 is a keystone complex connecting DNA repair machinery, double-strand break signaling, and the chromatin template. Biochem. Cell Biol. 85 (2007) 509-520
    • (2007) Biochem. Cell Biol. , vol.85 , pp. 509-520
    • Williams, R.S.1    Williams, J.S.2    Tainer, J.A.3
  • 15
    • 34547686372 scopus 로고    scopus 로고
    • The multiple roles of the Mre11 complex for meiotic recombination
    • Borde V. The multiple roles of the Mre11 complex for meiotic recombination. Chromosome Res. 15 (2007) 551-563
    • (2007) Chromosome Res. , vol.15 , pp. 551-563
    • Borde, V.1
  • 16
    • 33645800789 scopus 로고    scopus 로고
    • The involvement of the Mre11/Rad50/Nbs1 complex in the generation of G-overhangs at human telomeres
    • Chai W., Sfeir A.J., Hoshiyama H., Shay J.W., and Wright W.E. The involvement of the Mre11/Rad50/Nbs1 complex in the generation of G-overhangs at human telomeres. EMBO Rep. 7 (2006) 225-230
    • (2006) EMBO Rep. , vol.7 , pp. 225-230
    • Chai, W.1    Sfeir, A.J.2    Hoshiyama, H.3    Shay, J.W.4    Wright, W.E.5
  • 17
    • 33750006616 scopus 로고    scopus 로고
    • The role of DNA damage response proteins at telomeres-an "integrative" model
    • Slijepcevic P. The role of DNA damage response proteins at telomeres-an "integrative" model. DNA Repair 5 (2006) 1299-1306
    • (2006) DNA Repair , vol.5 , pp. 1299-1306
    • Slijepcevic, P.1
  • 20
    • 27544460105 scopus 로고    scopus 로고
    • Roles of nibrin and ATM/ATR kinases on the G2 checkpoint under endogenous or radio-induced DNA damage
    • Marcelain K., De la Torre C., González P., and Pincheira J. Roles of nibrin and ATM/ATR kinases on the G2 checkpoint under endogenous or radio-induced DNA damage. Biol. Res. 38 (2005) 179-185
    • (2005) Biol. Res. , vol.38 , pp. 179-185
    • Marcelain, K.1    De la Torre, C.2    González, P.3    Pincheira, J.4
  • 21
    • 34548213632 scopus 로고    scopus 로고
    • The Mre11 complex mediates the S-phase checkpoint through an interaction with replication protein A
    • Olson E., Nievera C.J., Liu E., Lee A.Y.L., Chen L., and Wu X. The Mre11 complex mediates the S-phase checkpoint through an interaction with replication protein A. Mol. Cell. Biol. 27 (2007) 6053-6067
    • (2007) Mol. Cell. Biol. , vol.27 , pp. 6053-6067
    • Olson, E.1    Nievera, C.J.2    Liu, E.3    Lee, A.Y.L.4    Chen, L.5    Wu, X.6
  • 23
    • 0036510055 scopus 로고    scopus 로고
    • The DNA damage-dependent intra-S phase checkpoint is regulated by parallel pathways
    • Falck J., Petrini J.H., Williams B.R., Lukas J., and Bartek J. The DNA damage-dependent intra-S phase checkpoint is regulated by parallel pathways. Nat. Genet. 30 (2002) 290-294
    • (2002) Nat. Genet. , vol.30 , pp. 290-294
    • Falck, J.1    Petrini, J.H.2    Williams, B.R.3    Lukas, J.4    Bartek, J.5
  • 25
    • 34248579748 scopus 로고    scopus 로고
    • The carboxy terminus of NBS1 is required for induction of apoptosis by the MRE11 complex
    • Stracker T.H., Morales M., Couto S.S., Hussein H., and Petrini J.H. The carboxy terminus of NBS1 is required for induction of apoptosis by the MRE11 complex. Nature 447 (2007) 218-221
    • (2007) Nature , vol.447 , pp. 218-221
    • Stracker, T.H.1    Morales, M.2    Couto, S.S.3    Hussein, H.4    Petrini, J.H.5
  • 26
    • 29144450333 scopus 로고    scopus 로고
    • The Rad50S allele promotes ATM-dependent DNA damage responses and suppresses ATM deficiency: implications for the Mre11 complex as a DNA damage sensor
    • Morales M., Theunissen J.W., Kim C.F., Kitagawa R., Kastan M.B., and Petrini J.H. The Rad50S allele promotes ATM-dependent DNA damage responses and suppresses ATM deficiency: implications for the Mre11 complex as a DNA damage sensor. Genes Dev. 19 (2005) 3043-3054
    • (2005) Genes Dev. , vol.19 , pp. 3043-3054
    • Morales, M.1    Theunissen, J.W.2    Kim, C.F.3    Kitagawa, R.4    Kastan, M.B.5    Petrini, J.H.6
  • 27
    • 0035936554 scopus 로고    scopus 로고
    • Targeted disruption of the Nijmegen breakage syndrome gene NBS1 leads to early embryonic lethality in mice
    • Zhu J., Petersen S., Tessarollo L., and Nussenzweig A. Targeted disruption of the Nijmegen breakage syndrome gene NBS1 leads to early embryonic lethality in mice. Curr. Biol. 11 (2001) 105-109
    • (2001) Curr. Biol. , vol.11 , pp. 105-109
    • Zhu, J.1    Petersen, S.2    Tessarollo, L.3    Nussenzweig, A.4
  • 28
    • 0030749867 scopus 로고    scopus 로고
    • Conditional gene targeted deletion by Cre recombinase demonstrates the requirement for the double-strand break repair Mre11 protein in murine embryonic stem cells
    • Xiao Y., and Weaver D.T. Conditional gene targeted deletion by Cre recombinase demonstrates the requirement for the double-strand break repair Mre11 protein in murine embryonic stem cells. Nucleic Acids Res. 25 (1997) 2985-2991
    • (1997) Nucleic Acids Res. , vol.25 , pp. 2985-2991
    • Xiao, Y.1    Weaver, D.T.2
  • 29
    • 0033594904 scopus 로고    scopus 로고
    • Disruption of mRad50 causes embryonic stem cell lethality, abnormal embryonic development and sensitivity to ionizing radiation
    • Luo G., Yao M.S., Bender C.F., Mills M., Bladl A.R., Bradley A., and Petrini J.H.J. Disruption of mRad50 causes embryonic stem cell lethality, abnormal embryonic development and sensitivity to ionizing radiation. Proc. Natl. Acad. Sci. U.S.A. 96 (1999) 7376-7381
    • (1999) Proc. Natl. Acad. Sci. U.S.A. , vol.96 , pp. 7376-7381
    • Luo, G.1    Yao, M.S.2    Bender, C.F.3    Mills, M.4    Bladl, A.R.5    Bradley, A.6    Petrini, J.H.J.7
  • 31
    • 33749678963 scopus 로고    scopus 로고
    • Ataxia-telangiectasia and related diseases
    • Frappart P.O., and McKinnon P.J. Ataxia-telangiectasia and related diseases. Neuromol. Med. 8 (2006) 495-511
    • (2006) Neuromol. Med. , vol.8 , pp. 495-511
    • Frappart, P.O.1    McKinnon, P.J.2
  • 34
    • 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
    • Seemanová E. An increased risk for malignant neoplasms in heterozygotes for a syndrome of microcephaly, normal intelligence, growth retardation, remarkable facies, immunodeficiency and chromosomal instability. Mutat. Res. 238 (1990) 321-324
    • (1990) Mutat. Res. , vol.238 , pp. 321-324
    • Seemanová, E.1
  • 36
    • 0141923141 scopus 로고    scopus 로고
    • Altered expression of DNA double-strand break detection and repair proteins in breast carcinomas
    • Angèle S., Treilleux I., Brémond A., Tanière P., and Hall J. Altered expression of DNA double-strand break detection and repair proteins in breast carcinomas. Histopathology 43 (2003) 347-353
    • (2003) Histopathology , vol.43 , pp. 347-353
    • Angèle, S.1    Treilleux, I.2    Brémond, A.3    Tanière, P.4    Hall, J.5
  • 37
    • 0030764691 scopus 로고    scopus 로고
    • hMre11 and hRad50 nuclear foci are induced during the normal cellular response to DNA double-strand breaks
    • Maser R.S., Monsen K.J., Nelms B.E., and Petrini J.H. hMre11 and hRad50 nuclear foci are induced during the normal cellular response to DNA double-strand breaks. Mol. Cell. Biol. 17 (1997) 6087-6096
    • (1997) Mol. Cell. Biol. , vol.17 , pp. 6087-6096
    • Maser, R.S.1    Monsen, K.J.2    Nelms, B.E.3    Petrini, J.H.4
  • 39
    • 8444236725 scopus 로고    scopus 로고
    • Expression of ATM, p53 and the MRE11-Rad50-NBS1 complex in myoepithelial cells from benign and malignant proliferations of the breast
    • Angèle S., Jones C., Reis Filho J.S., Fulford L.G., Treilleux I., Lakhani S.R., and Hall J. Expression of ATM, p53 and the MRE11-Rad50-NBS1 complex in myoepithelial cells from benign and malignant proliferations of the breast. J. Clin. Pathol. 57 (2004) 1179-1184
    • (2004) J. Clin. Pathol. , vol.57 , pp. 1179-1184
    • Angèle, S.1    Jones, C.2    Reis Filho, J.S.3    Fulford, L.G.4    Treilleux, I.5    Lakhani, S.R.6    Hall, J.7
  • 40
    • 25444455323 scopus 로고    scopus 로고
    • Overexpression of NBS1 contributes to transformation through the activation of phosphatidylinositol 3-kinase/Akt
    • Chen Y.C., Su Y.N., Chou P.C., Chiang W.C., Chang M.C., Wang L.S., Teng S.C., and Wu K.J. Overexpression of NBS1 contributes to transformation through the activation of phosphatidylinositol 3-kinase/Akt. J. Biol. Chem. 280 (2005) 32505-32511
    • (2005) J. Biol. Chem. , vol.280 , pp. 32505-32511
    • Chen, Y.C.1    Su, Y.N.2    Chou, P.C.3    Chiang, W.C.4    Chang, M.C.5    Wang, L.S.6    Teng, S.C.7    Wu, K.J.8
  • 41
    • 16344362449 scopus 로고    scopus 로고
    • NBS1 expression as a prognostic marker in uveal melanoma
    • Ehlers J.P., and Harbour J.W. NBS1 expression as a prognostic marker in uveal melanoma. Clin. Cancer Res. 11 (2005) 1849-1853
    • (2005) Clin. Cancer Res. , vol.11 , pp. 1849-1853
    • Ehlers, J.P.1    Harbour, J.W.2
  • 42
    • 31544465282 scopus 로고    scopus 로고
    • Increased NBS1 expression is a marker of aggressive head and neck cancer and overexpression of NBS1 contributes to transformation
    • Yang M.H., Chiang W.C., Chou T.Y., Chang S.Y., Chen P.M., Teng S.C., and Wu K.J. Increased NBS1 expression is a marker of aggressive head and neck cancer and overexpression of NBS1 contributes to transformation. Clin. Cancer Res. 12 (2006) 507-515
    • (2006) Clin. Cancer Res. , vol.12 , pp. 507-515
    • Yang, M.H.1    Chiang, W.C.2    Chou, T.Y.3    Chang, S.Y.4    Chen, P.M.5    Teng, S.C.6    Wu, K.J.7
  • 43
    • 0037805645 scopus 로고    scopus 로고
    • c-Myc directly regulates the transcription of the NBS1 gene involved in DNA double-strand break repair
    • Chiang Y.C., Teng S.C., Su Y.N., Hsieh F.J., and Wu K.J. c-Myc directly regulates the transcription of the NBS1 gene involved in DNA double-strand break repair. J. Biol. Chem. 278 (2003) 19286-19291
    • (2003) J. Biol. Chem. , vol.278 , pp. 19286-19291
    • Chiang, Y.C.1    Teng, S.C.2    Su, Y.N.3    Hsieh, F.J.4    Wu, K.J.5
  • 45
    • 0141794530 scopus 로고    scopus 로고
    • Nitric oxide-dependent cytoskelatal changes and inhibition of endothelial cell migration contribute to the suppression of angiogenesis by RAD50 gene transfer
    • Kook H., Ahn K.Y., Lee S.E., Na H.S., and Kim K.K. Nitric oxide-dependent cytoskelatal changes and inhibition of endothelial cell migration contribute to the suppression of angiogenesis by RAD50 gene transfer. FEBS Lett. 553 (2003) 56-62
    • (2003) FEBS Lett. , vol.553 , pp. 56-62
    • Kook, H.1    Ahn, K.Y.2    Lee, S.E.3    Na, H.S.4    Kim, K.K.5
  • 46
    • 0000770165 scopus 로고    scopus 로고
    • The International Nijmegen Breakage Syndrome Study Group, Nijmegen breakage syndrome, Arch. Dis. Child. 82 (2000) 400-406.
    • The International Nijmegen Breakage Syndrome Study Group, Nijmegen breakage syndrome, Arch. Dis. Child. 82 (2000) 400-406.
  • 51
    • 33746130359 scopus 로고    scopus 로고
    • Association of the heterozygous germline I171V mutation of the NBS1 gene with childhood acute lymphoblastic leukemia
    • Mosor M., Ziółkowska I., Pernak-Schwarz M., Januszkiewicz-Lewandowska D., and Nowak J. Association of the heterozygous germline I171V mutation of the NBS1 gene with childhood acute lymphoblastic leukemia. Leukemia 20 (2006) 1454-1456
    • (2006) Leukemia , vol.20 , pp. 1454-1456
    • Mosor, M.1    Ziółkowska, I.2    Pernak-Schwarz, M.3    Januszkiewicz-Lewandowska, D.4    Nowak, J.5
  • 52
    • 33751581029 scopus 로고    scopus 로고
    • Increased risk of gastrointestinal lymphoma in carriers of the 657del5 NBS1 gene mutation
    • Steffen J., Maneva G., Popławska L., Varon R., Mioduszewska O., and Sperling K. Increased risk of gastrointestinal lymphoma in carriers of the 657del5 NBS1 gene mutation. Int. J. Cancer 119 (2006) 2970-2973
    • (2006) Int. J. Cancer , vol.119 , pp. 2970-2973
    • Steffen, J.1    Maneva, G.2    Popławska, L.3    Varon, R.4    Mioduszewska, O.5    Sperling, K.6
  • 53
    • 0034085362 scopus 로고    scopus 로고
    • No evidence for a major role of heterozygous deletion 657del5 within the NBS1 gene in the pathogenesis of non-Hodgkin's lymphoma of childhood and adolescence
    • Stanulla M., Stümm M., Dieckvoss B.O., Seidemann K., Schemmel V., Brechlin A.M., Schrappe M., Welte K., and Reiter A. No evidence for a major role of heterozygous deletion 657del5 within the NBS1 gene in the pathogenesis of non-Hodgkin's lymphoma of childhood and adolescence. Br. J. Haematol. 109 (2000) 117-120
    • (2000) Br. J. Haematol. , vol.109 , pp. 117-120
    • Stanulla, M.1    Stümm, M.2    Dieckvoss, B.O.3    Seidemann, K.4    Schemmel, V.5    Brechlin, A.M.6    Schrappe, M.7    Welte, K.8    Reiter, A.9
  • 54
    • 0033902941 scopus 로고    scopus 로고
    • The common deletion 657del5 in the nibrin gene is not a major risk factor for B or T cell non-Hodgkin lymphoma in a pediatric population
    • Rischewski J., von Bismarck P., Kabisch H., Janka-Schaub G., Obser T., and Schneppenheim R. The common deletion 657del5 in the nibrin gene is not a major risk factor for B or T cell non-Hodgkin lymphoma in a pediatric population. Leukemia 14 (2000) 1528-1529
    • (2000) Leukemia , vol.14 , pp. 1528-1529
    • Rischewski, J.1    von Bismarck, P.2    Kabisch, H.3    Janka-Schaub, G.4    Obser, T.5    Schneppenheim, R.6
  • 57
    • 50049101849 scopus 로고    scopus 로고
    • G.M. Taylor, H.P. O'Brien, M.V. Greaves, P.F. Ravetto, O.B. Eden, Correspondence re: R. Varon et al., Mutations in the Nijmegen breakage syndrome gene (NBS1) in childhood acute lymphoblastic leukemia. Cancer Res., 61 (2001) 3570-3572, Cancer Res. 63 (2003) 6563-6564.
    • G.M. Taylor, H.P. O'Brien, M.V. Greaves, P.F. Ravetto, O.B. Eden, Correspondence re: R. Varon et al., Mutations in the Nijmegen breakage syndrome gene (NBS1) in childhood acute lymphoblastic leukemia. Cancer Res., 61 (2001) 3570-3572, Cancer Res. 63 (2003) 6563-6564.
  • 64
    • 34547816215 scopus 로고    scopus 로고
    • Germline NBS1 mutations in families with aggregation of Breast and/or ovarian cancer from north-east Poland
    • Kanka C., Brożek I., Skalska B., Siemia{ogonek}tkowska A., and Limon J. Germline NBS1 mutations in families with aggregation of Breast and/or ovarian cancer from north-east Poland. Anticancer Res. 27 (2007) 3015-3018
    • (2007) Anticancer Res. , vol.27 , pp. 3015-3018
    • Kanka, C.1    Brozek, I.2    Skalska, B.3    Siemiatkowska, A.4    Limon, J.5
  • 70
    • 34748906012 scopus 로고    scopus 로고
    • Increased risk of larynx cancer in heterozygous carriers of the I171V mutation of the NBS1 gene
    • Ziółkowska I., Mosor M., Wierzbicka M., Rydzanicz M., Pernak-Schwarz M., and Nowak J. Increased risk of larynx cancer in heterozygous carriers of the I171V mutation of the NBS1 gene. Cancer Sci. 98 (2007) 1701-1705
    • (2007) Cancer Sci. , vol.98 , pp. 1701-1705
    • Ziółkowska, I.1    Mosor, M.2    Wierzbicka, M.3    Rydzanicz, M.4    Pernak-Schwarz, M.5    Nowak, J.6
  • 71
    • 0043122919 scopus 로고    scopus 로고
    • SIFT: Predicting amino acid changes that affect protein function
    • Ng P.C., and Henikoff S. SIFT: Predicting amino acid changes that affect protein function. Nucleic Acids Res. 31 (2003) 3812-3814
    • (2003) Nucleic Acids Res. , vol.31 , pp. 3812-3814
    • Ng, P.C.1    Henikoff, S.2
  • 72
    • 5044248651 scopus 로고    scopus 로고
    • First case of aplastic anemia in a Japanese child with a homozygous missense mutation in the NBS1 gene (I171V) associated with genomic instability
    • Shimada H., Shimizu K., Mimaki S., Sakiyama T., Mori T., Shimasaki N., Yokota J., Nakachi K., Ohta T., and Ohki M. First case of aplastic anemia in a Japanese child with a homozygous missense mutation in the NBS1 gene (I171V) associated with genomic instability. Hum. Genet. 115 (2004) 372-376
    • (2004) Hum. Genet. , vol.115 , pp. 372-376
    • Shimada, H.1    Shimizu, K.2    Mimaki, S.3    Sakiyama, T.4    Mori, T.5    Shimasaki, N.6    Yokota, J.7    Nakachi, K.8    Ohta, T.9    Ohki, M.10
  • 73
    • 50049095436 scopus 로고    scopus 로고
    • N. Bogdanova, P. Schürmann, R. Waltes, S. Feshchenko, I.V. Zalutsky, M. Bremer, T. Dörk, NBS1 variant I171V and breast cancer risk, Breast Cancer Res. Treat. (2007).
    • N. Bogdanova, P. Schürmann, R. Waltes, S. Feshchenko, I.V. Zalutsky, M. Bremer, T. Dörk, NBS1 variant I171V and breast cancer risk, Breast Cancer Res. Treat. (2007).
  • 74
    • 0035328489 scopus 로고    scopus 로고
    • Mutations in the Nijmegen breakage syndrome gene (NBS1) in childhood acute lymphoblastic leukemia (ALL)
    • Varon R., Reis A., Henze G., Einsiedel H.G.V., Sperling K., and Seeger K. Mutations in the Nijmegen breakage syndrome gene (NBS1) in childhood acute lymphoblastic leukemia (ALL). Cancer Res. 61 (2001) 3570-3572
    • (2001) Cancer Res. , vol.61 , pp. 3570-3572
    • Varon, R.1    Reis, A.2    Henze, G.3    Einsiedel, H.G.V.4    Sperling, K.5    Seeger, K.6
  • 76
    • 1542542679 scopus 로고    scopus 로고
    • Mutation screening of Mre11 complex genes: indication of RAD50 involvement in breast and ovarian cancer susceptibility
    • Heikkinen K., Karppinen S.M., Soini Y., Mäkinen M., and Winqvist R. Mutation screening of Mre11 complex genes: indication of RAD50 involvement in breast and ovarian cancer susceptibility. J. Med. Genet. 40 (2003) e131
    • (2003) J. Med. Genet. , vol.40
    • Heikkinen, K.1    Karppinen, S.M.2    Soini, Y.3    Mäkinen, M.4    Winqvist, R.5
  • 78
    • 41149127607 scopus 로고    scopus 로고
    • The R215W mutation in NBS1 impairs gamma-H2AX binding and affects DNA repair: molecular bases for the severe phenotype of 657del5/R215W Nijmegen breakage syndrome patients
    • di Masi A., Viganotti M., Polticelli F., Ascenzi P., Tanzarella C., and Antoccia A. The R215W mutation in NBS1 impairs gamma-H2AX binding and affects DNA repair: molecular bases for the severe phenotype of 657del5/R215W Nijmegen breakage syndrome patients. Biochem. Biophys. Res. Commun. 369 (2008) 835-840
    • (2008) Biochem. Biophys. Res. Commun. , vol.369 , pp. 835-840
    • di Masi, A.1    Viganotti, M.2    Polticelli, F.3    Ascenzi, P.4    Tanzarella, C.5    Antoccia, A.6
  • 82
    • 33750302131 scopus 로고    scopus 로고
    • Polymorphisms in the DNA repair genes XRCC1, APEX1, XRCC3 and NBS1 and the risk for lung cancer in never- and ever-smokers
    • Ryk C., Kumar R., Thirumaran R.K., and Hou S.M. Polymorphisms in the DNA repair genes XRCC1, APEX1, XRCC3 and NBS1 and the risk for lung cancer in never- and ever-smokers. Lung Cancer 54 (2006) 285-292
    • (2006) Lung Cancer , vol.54 , pp. 285-292
    • Ryk, C.1    Kumar, R.2    Thirumaran, R.K.3    Hou, S.M.4
  • 84
    • 23644459841 scopus 로고    scopus 로고
    • Single nucleotide polymorphismsm for DNA repair genes in breast cancer patients
    • Zhang L., Zhang Z., and Yan W. Single nucleotide polymorphismsm for DNA repair genes in breast cancer patients. Clin. Chim. Acta 359 (2005) 150-155
    • (2005) Clin. Chim. Acta , vol.359 , pp. 150-155
    • Zhang, L.1    Zhang, Z.2    Yan, W.3
  • 86
    • 0042026468 scopus 로고    scopus 로고
    • Screening of homologous recombination gene polymorphisms in lung cancer patients reveal an association of the NBS1-185Gln variant and p53 gene mutations
    • Medina P.P., Ahrendt S.A., Pollan M., Fernandez P., Sidransky D., and Sanchez-Cespedes M. Screening of homologous recombination gene polymorphisms in lung cancer patients reveal an association of the NBS1-185Gln variant and p53 gene mutations. Cancer Epidemiol. Biomarkers Prev. 12 (2003) 699-704
    • (2003) Cancer Epidemiol. Biomarkers Prev. , vol.12 , pp. 699-704
    • Medina, P.P.1    Ahrendt, S.A.2    Pollan, M.3    Fernandez, P.4    Sidransky, D.5    Sanchez-Cespedes, M.6
  • 90
    • 37049016679 scopus 로고    scopus 로고
    • Novel NBS1 heterozygous germ line mutation causing MRE-11 binding domain loss predisposes to common types of cancer
    • Ebi H., Matsuo K., Sugito N., Suzuki M., Osada H., Tajima K., Ueda R., and Takahashi T. Novel NBS1 heterozygous germ line mutation causing MRE-11 binding domain loss predisposes to common types of cancer. Cancer Res. 67 (2007) 11158-11165
    • (2007) Cancer Res. , vol.67 , pp. 11158-11165
    • Ebi, H.1    Matsuo, K.2    Sugito, N.3    Suzuki, M.4    Osada, H.5    Tajima, K.6    Ueda, R.7    Takahashi, T.8
  • 91
    • 0242635676 scopus 로고    scopus 로고
    • Mutation analysis of the Nijmegen Breakage Syndrome gene (NBS1) in nineteen patients with acute myeloid leukemia with complex karyotypes
    • Varon R., Schoch C., Reis A., Hiddemann W., Sperling K., and Schnittger S. Mutation analysis of the Nijmegen Breakage Syndrome gene (NBS1) in nineteen patients with acute myeloid leukemia with complex karyotypes. Leuk. Lymphoma 44 (2003) 1931-1934
    • (2003) Leuk. Lymphoma , vol.44 , pp. 1931-1934
    • Varon, R.1    Schoch, C.2    Reis, A.3    Hiddemann, W.4    Sperling, K.5    Schnittger, S.6
  • 93
    • 85194876121 scopus 로고    scopus 로고
    • J. Tommiska, S. Seal, A. Renwick, R. Barfoot, L. Baskcomb, H. Jayatilake, J. Bartkova, J. Tallila, M. Kaare, A. Tamminen, P. Heikkilä, D.G. Evans, D. Eccles, Breast Cancer Susceptibility Collaboration (UK), K. Aittomäki, C. Blomqvist, J.Bartek, M.R. Stratton, H. Nevanlinna, N. Rahman, Evaluation of RAD50 in familial breast cancer predisposition, Int. J. Cancer 118 (2006) 2911-2916.
    • J. Tommiska, S. Seal, A. Renwick, R. Barfoot, L. Baskcomb, H. Jayatilake, J. Bartkova, J. Tallila, M. Kaare, A. Tamminen, P. Heikkilä, D.G. Evans, D. Eccles, Breast Cancer Susceptibility Collaboration (UK), K. Aittomäki, C. Blomqvist, J.Bartek, M.R. Stratton, H. Nevanlinna, N. Rahman, Evaluation of RAD50 in familial breast cancer predisposition, Int. J. Cancer 118 (2006) 2911-2916.
  • 94
    • 33644601309 scopus 로고    scopus 로고
    • Does tumorigenesis select for or against mutations of the DNA repair-associated genes BRCA2 and MRE11? Considerations from somatic mutations in microsatellite unstable (MSI) gastrointestinal cancers
    • van der Heijden M.S., Brody J.R., Elghalbzouri-Maghrani E., Zdzienicka M.Z., and Kern S.E. Does tumorigenesis select for or against mutations of the DNA repair-associated genes BRCA2 and MRE11? Considerations from somatic mutations in microsatellite unstable (MSI) gastrointestinal cancers. BMC Genet. 7 (2006) 3
    • (2006) BMC Genet. , vol.7 , pp. 3
    • van der Heijden, M.S.1    Brody, J.R.2    Elghalbzouri-Maghrani, E.3    Zdzienicka, M.Z.4    Kern, S.E.5
  • 100
    • 0035135548 scopus 로고    scopus 로고
    • Frameshift mutations in coding mononucleotide repeats of the hRAD50 gene in gastrointestinal carcinomas with microsatellite instability
    • Kim N.G., Choi Y.R., Baek M.J., Kim Y.H., Kang H., Kim N.K., Min J.S., and Kim H. Frameshift mutations in coding mononucleotide repeats of the hRAD50 gene in gastrointestinal carcinomas with microsatellite instability. Cancer Res. 61 (2001) 36-38
    • (2001) Cancer Res. , vol.61 , pp. 36-38
    • Kim, N.G.1    Choi, Y.R.2    Baek, M.J.3    Kim, Y.H.4    Kang, H.5    Kim, N.K.6    Min, J.S.7    Kim, H.8
  • 101
  • 102
    • 33749002551 scopus 로고    scopus 로고
    • Models of genetic susceptibility to breast cancer
    • Antoniou A.C., and Easton D.F. Models of genetic susceptibility to breast cancer. Oncogene 25 (2006) 5898-5905
    • (2006) Oncogene , vol.25 , pp. 5898-5905
    • Antoniou, A.C.1    Easton, D.F.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.