메뉴 건너뛰기




Volumn 66, Issue 18, 2006, Pages 8966-8970

Rare germ line CHEK2 variants identified in breast cancer families encode proteins that show impaired activation

Author keywords

[No Author keywords available]

Indexed keywords

CHECKPOINT KINASE 2; ETOPOSIDE;

EID: 33749497506     PISSN: 00085472     EISSN: None     Source Type: Journal    
DOI: 10.1158/0008-5472.CAN-06-1990     Document Type: Article
Times cited : (38)

References (21)
  • 1
    • 0038418869 scopus 로고    scopus 로고
    • Chk1 and chk2 kinases in checkpoint control and cancer
    • Bartek J, Lukas J. Chk1 and chk2 kinases in checkpoint control and cancer. Cancer Cell 2003;3:421-9.
    • (2003) Cancer Cell , vol.3 , pp. 421-429
    • Bartek, J.1    Lukas, J.2
  • 3
    • 0037205422 scopus 로고    scopus 로고
    • Phosphorylation of threonine 68 promotes oligomerization and autophosphorylation of the Chk2 protein kinase via the forkhead-associated domain
    • Ahn JH, Li X, Davis HL, Canman CE. Phosphorylation of threonine 68 promotes oligomerization and autophosphorylation of the Chk2 protein kinase via the forkhead-associated domain. J Biol Chem 2002;277:19389-95.
    • (2002) J Biol Chem , vol.277 , pp. 19389-19395
    • Ahn, J.H.1    Li, X.2    Davis, H.L.3    Canman, C.E.4
  • 4
    • 0035839526 scopus 로고    scopus 로고
    • The hCds1 (CHK2)-FHA domain is essential for a chain of phosphorylation events on hCds1 that is induced by ionizing radiation
    • Lee CH, Chung JH. The hCds1 (CHK2)-FHA domain is essential for a chain of phosphorylation events on hCds1 that is induced by ionizing radiation. J Biol Chem 2001;4:30537-41.
    • (2001) J Biol Chem , vol.4 , pp. 30537-30541
    • Lee, C.H.1    Chung, J.H.2
  • 5
    • 0035951809 scopus 로고    scopus 로고
    • Characterization of tumor-associated Chk2 mutations
    • Wu X, Webster SR, Chen J. Characterization of tumor-associated Chk2 mutations. J Biol Chem 2001;276:2971-4.
    • (2001) J Biol Chem , vol.276 , pp. 2971-2974
    • Wu, X.1    Webster, S.R.2    Chen, J.3
  • 6
    • 18544389716 scopus 로고    scopus 로고
    • Low penetrance susceptibility to breast cancer due to CHEK2*1100delC in noncarriers of BRCA1 or BRCA2 mutations
    • Meijers-Heijboer H, van den Ouweland A, Klijn J, et al. Low penetrance susceptibility to breast cancer due to CHEK2*1100delC in noncarriers of BRCA1 or BRCA2 mutations. Nat Genet 2002;31:55-9.
    • (2002) Nat Genet , vol.31 , pp. 55-59
    • Meijers-Heijboer, H.1    Van Den Ouweland, A.2    Klijn, J.3
  • 7
    • 8844220451 scopus 로고    scopus 로고
    • CHEK2 is a multiorgan cancer susceptibility gene
    • Cybulski C, Gorski B, Huzarski T, et al. CHEK2 is a multiorgan cancer susceptibility gene. Am J Hum Genet 2004;75:1131-5.
    • (2004) Am J Hum Genet , vol.75 , pp. 1131-1135
    • Cybulski, C.1    Gorski, B.2    Huzarski, T.3
  • 8
    • 0037320555 scopus 로고    scopus 로고
    • Mutations in CHEK2 associated with prostate cancer risk
    • Dong X, Wang L, Taniguchi K, et al. Mutations in CHEK2 associated with prostate cancer risk. Am J Hum Genet 2003;72:270-80.
    • (2003) Am J Hum Genet , vol.72 , pp. 270-280
    • Dong, X.1    Wang, L.2    Taniguchi, K.3
  • 9
    • 0037011665 scopus 로고    scopus 로고
    • CHEK2 variants in susceptibility to breast cancer and evidence of retention of the wild-type allele in tumours
    • Sodha N, Bullock S, Taylor R, et al. CHEK2 variants in susceptibility to breast cancer and evidence of retention of the wild-type allele in tumours. Br J Cancer 2002;87:1445-8.
    • (2002) Br J Cancer , vol.87 , pp. 1445-1448
    • Sodha, N.1    Bullock, S.2    Taylor, R.3
  • 10
    • 2442476240 scopus 로고    scopus 로고
    • Limited relevance of the CHEK2 gene in hereditary breast cancer
    • Dufault MR, Betz B, Wappenschmidt B. Limited relevance of the CHEK2 gene in hereditary breast cancer. Int J Cancer 2004;110:320-5.
    • (2004) Int J Cancer , vol.110 , pp. 320-325
    • Dufault, M.R.1    Betz, B.2    Wappenschmidt, B.3
  • 11
    • 18744372122 scopus 로고    scopus 로고
    • Increasing evidence that germline mutations in CHEK2 do not cause Li-Fraumeni syndrome
    • Sodha N, Houlston RS, Bullock S, et al. Increasing evidence that germline mutations in CHEK2 do not cause Li-Fraumeni syndrome. Hum Mutat 2002;20:460-2.
    • (2002) Hum Mutat , vol.20 , pp. 460-462
    • Sodha, N.1    Houlston, R.S.2    Bullock, S.3
  • 12
    • 3242878412 scopus 로고    scopus 로고
    • 3DCoffee@igs: A web server for combining sequences and structures into a multiple sequence alignment
    • Poirot O, Suhre K, Abergel C, O'Toole E, Notredame C. 3DCoffee@igs: a web server for combining sequences and structures into a multiple sequence alignment. Nucleic Acids Res 2004;32:37-40.
    • (2004) Nucleic Acids Res , vol.32 , pp. 37-40
    • Poirot, O.1    Suhre, K.2    Abergel, C.3    O'Toole, E.4    Notredame, C.5
  • 13
    • 0036285705 scopus 로고    scopus 로고
    • Structural and functional versatility of the FHA domain in DNA-damage signaling by the tumor suppressor kinase Chk2
    • Li J, Williams BL, Haire LF, et al. Structural and functional versatility of the FHA domain in DNA-damage signaling by the tumor suppressor kinase Chk2. Mol Cell 2002;9:1045-54.
    • (2002) Mol Cell , vol.9 , pp. 1045-1054
    • Li, J.1    Williams, B.L.2    Haire, L.F.3
  • 14
    • 0043122919 scopus 로고    scopus 로고
    • SIFT: Predicting amino acid changes that affect protein function
    • Ng PC, Henikoff S. SIFT: predicting amino acid changes that affect protein function. Nucleic Acids Res 2003;31:3812-4.
    • (2003) Nucleic Acids Res , vol.31 , pp. 3812-3814
    • Ng, P.C.1    Henikoff, S.2
  • 15
    • 33644537810 scopus 로고    scopus 로고
    • Comprehensive statistical study of 452 BRCA1 missense substitutions with reclassification of eight substitutions as neutral
    • Tavtigian SV, Deffenbaugh AM, Yin L, et al. Comprehensive statistical study of 452 BRCA1 missense substitutions with reclassification of eight 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
  • 16
    • 0035890407 scopus 로고    scopus 로고
    • Destabililization of chk2 by a missense mutation associated with Li-Fraumeni syndrome
    • Lee SB, Kim SH, Bell DW, et al. Destabililization of chk2 by a missense mutation associated with Li-Fraumeni syndrome. Cancer Res 2001;61:8062-7.
    • (2001) Cancer Res , vol.61 , pp. 8062-8067
    • Lee, S.B.1    Kim, S.H.2    Bell, D.W.3
  • 17
    • 4944255743 scopus 로고    scopus 로고
    • Post translational modification of p53 in tumorigenesis
    • Bode AM, Dong Z. Post translational modification of p53 in tumorigenesis. Nat Rev cancer 2004;4:793-805.
    • (2004) Nat Rev Cancer , vol.4 , pp. 793-805
    • Bode, A.M.1    Dong, Z.2
  • 18
    • 0347626108 scopus 로고    scopus 로고
    • The CHEK2*1100delC variant acts as a breast cancer risk modifier in non-BRCA1/BRCA2 multiple-case families
    • Oldenburg RA, Kroeze-Jansema K, Kraan J, et al. The CHEK2*1100delC variant acts as a breast cancer risk modifier in non-BRCA1/BRCA2 multiple-case families. Cancer Res 2003;63:8153-7.
    • (2003) Cancer Res , vol.63 , pp. 8153-8157
    • Oldenburg, R.A.1    Kroeze-Jansema, K.2    Kraan, J.3
  • 19
    • 19944391947 scopus 로고    scopus 로고
    • Homozygosity for a CHEK2*1100delC mutation identified in familial colorectral cancer does not lead to a severe clinical phenotype
    • van Puijenbroek M, van Asperen CJ, van Mil A, et al. Homozygosity for a CHEK2*1100delC mutation identified in familial colorectral cancer does not lead to a severe clinical phenotype. J Pathol 2005;206:198-204.
    • (2005) J Pathol , vol.206 , pp. 198-204
    • Van Puijenbroek, M.1    Van Asperen, C.J.2    Van Mil, A.3
  • 20
    • 18644375649 scopus 로고    scopus 로고
    • Chk2-deficient mice exhibit radioresistance and defective p53-mediated transcription
    • Takai HK, Naka KY, Okada Y, et al. Chk2-deficient mice exhibit radioresistance and defective p53-mediated transcription. EMBO J 2002;21:5195-205.
    • (2002) EMBO J , vol.21 , pp. 5195-5205
    • Takai, H.K.1    Naka, K.Y.2    Okada, Y.3
  • 21
    • 2542432915 scopus 로고    scopus 로고
    • Haploinsufficiency for tumour suppressor genes: When you don't need to go all the way
    • Santarosa M, Ashworth A. Haploinsufficiency for tumour suppressor genes: when you don't need to go all the way. Biochim Biophys Acta 2004;1654:105-22.
    • (2004) Biochim Biophys Acta , vol.1654 , pp. 105-122
    • Santarosa, M.1    Ashworth, A.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.