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Volumn 8, Issue , 2008, Pages

Spectrum and characterisation of BRCA1 and BRCA2 deleterious mutations in high-risk Czech patients with breast and/or ovarian cancer

Author keywords

[No Author keywords available]

Indexed keywords

ADENINE; BRCA1 PROTEIN; BRCA2 PROTEIN; COMPLEMENTARY DNA; CYSTEINE; CYTOSINE; GLYCINE; GUANINE; MESSENGER RNA; TYROSINE;

EID: 44949263899     PISSN: None     EISSN: 14712407     Source Type: Journal    
DOI: 10.1186/1471-2407-8-140     Document Type: Article
Times cited : (70)

References (26)
  • 2
    • 30744445981 scopus 로고    scopus 로고
    • Hereditary breast and ovarian cancer: Review and future perspectives
    • 10.1007/s00109-005-0696-7 16283147
    • Lux MP Fasching PA Beckmann MW Hereditary breast and ovarian cancer: review and future perspectives J Mol Med 2006, 84:16-28. 10.1007/ s00109-005-0696-7 16283147
    • (2006) J Mol Med , vol.84 , pp. 16-28
    • Lux, M.P.1    Fasching, P.A.2    Beckmann, M.W.3
  • 4
    • 0028843102 scopus 로고
    • Breast and ovarian cancer incidence in BRCA1-mutation carriers. Breast Cancer Linkage Consortium
    • 7825587 1801337
    • Easton DF Ford D Bishop DT Breast Cancer Linkage Consortium Breast and ovarian cancer incidence in BRCA1-mutation carriers. Breast Cancer Linkage Consortium Am J Hum Genet 1995, 56(1):265-271. 7825587 1801337
    • (1995) Am J Hum Genet , vol.56 , Issue.1 , pp. 265-271
    • Easton, D.F.1    Ford, D.2    Bishop, D.T.3
  • 6
    • 0036488497 scopus 로고    scopus 로고
    • Modifiers of risk of hereditary breast and ovarian cancer
    • 10.1038/nrc726 12635174
    • Narod SA Modifiers of risk of hereditary breast and ovarian cancer Nat Rev Cancer 2002, 2:113-123. 10.1038/nrc726 12635174
    • (2002) Nat Rev Cancer , vol.2 , pp. 113-123
    • Narod, S.A.1
  • 7
    • 0028034348 scopus 로고
    • Confirmation of BRCA1 by analysis of germline mutations linked to breast and ovarian cancer in ten families
    • 10.1038/ng1294-399 7894493
    • Friedman LS Ostermeyer EA Szabo CI Down P Lynch ED Rowel SE King MC Confirmation of BRCA1 by analysis of germline mutations linked to breast and ovarian cancer in ten families Nat Genet 1994, 8:399-404. 10.1038/ ng1294-399 7894493
    • (1994) Nat Genet , vol.8 , pp. 399-404
    • Friedman, L.S.1    Ostermeyer, E.A.2    Szabo, C.I.3    Down, P.4    Lynch, E.D.5    Rowel, S.E.6    King, M.C.7
  • 9
    • 0033598823 scopus 로고    scopus 로고
    • Truncated BRCA2 is cytoplasmic: Implications for cancer-linked mutations
    • 24166 10570174 10.1073/pnas.96.24.13920
    • Spain BH Larson CJ Shihabuddin LS Gage FH Verma IM Truncated BRCA2 is cytoplasmic: Implications for cancer-linked mutations Proc Natl Acad Sci USA 1999, 96:13920-13925. 24166 10570174 10.1073/pnas.96.24.13920
    • (1999) Proc Natl Acad Sci USA , vol.96 , pp. 13920-13925
    • Spain, B.H.1    Larson, C.J.2    Shihabuddin, L.S.3    Gage, F.H.4    Verma, I.M.5
  • 10
    • 0031732316 scopus 로고    scopus 로고
    • Implications of a novel cryptic splice site in the BRCA1 gene
    • 10.1002/(SICI)1096-8628(19981102)80:2<140::AID-AJMG10>3.0.CO;2-L 9805131
    • Hoffman JD Hallam SE Venne VL Lyon E Ward K Implications of a novel cryptic splice site in the BRCA1 gene Am J Med Genet 1998, 80:140-144. 10.1002/(SICI)1096-8628(19981102)80:2<140::AID-AJMG10>3.0.CO;2-L 9805131
    • (1998) Am J Med Genet , vol.80 , pp. 140-144
    • Hoffman, J.D.1    Hallam, S.E.2    Venne, V.L.3    Lyon, E.4    Ward, K.5
  • 11
    • 0038207961 scopus 로고    scopus 로고
    • Differentiating pathogenic mutations from polymorphic alterations in the splice sites of BRCA1 and BRCA2
    • 10.1002/gcc.10221 12759930
    • Claes K Poppe B Machackova E Coene I Foretova L De Paepe A Messiaen L Differentiating pathogenic mutations from polymorphic alterations in the splice sites of BRCA1 and BRCA2 Genes Chromosomes Cancer 2003, 37:314-320. 10.1002/gcc.10221 12759930
    • (2003) Genes Chromosomes Cancer , vol.37 , pp. 314-320
    • Claes, K.1    Poppe, B.2    Machackova, E.3    Coene, I.4    Foretova, L.5    De Paepe, A.6    Messiaen, L.7
  • 12
    • 17044371510 scopus 로고    scopus 로고
    • Single nucleotide polymorphisms in clinical genetic testing: The characterization of the clinical significance of genetic variants and their application in clinical research for BRCA1
    • 15829246
    • Judkins T Hendricson BC Deffenbaugh AM Scholl T Single nucleotide polymorphisms in clinical genetic testing: The characterization of the clinical significance of genetic variants and their application in clinical research for BRCA1 Mutation Research 2005, 573:168-179. 15829246
    • (2005) Mutation Research , vol.573 , pp. 168-179
    • Judkins, T.1    Hendricson, B.C.2    Deffenbaugh, A.M.3    Scholl, T.4
  • 13
    • 0032619177 scopus 로고    scopus 로고
    • Mutation analysis of the BRCA1 and BRCA2 genes results in the identification of novel and recurrent mutations in 6/16 Flemish families with breast and/or ovarian cancer but not in 12 sporadic patients with early-onset disease
    • 10.1002/(SICI)1098-1004(1999)13:3<256::AID-HUMU12>3.0.CO;2-M 10090482
    • Claes K Machackova E De Vos M Mortier G De Paepe A Messiaen L Mutation analysis of the BRCA1 and BRCA2 genes results in the identification of novel and recurrent mutations in 6/16 Flemish families with breast and/ or ovarian cancer but not in 12 sporadic patients with early-onset disease Hum Mutat 1999, 13:256. 10.1002/ (SICI)1098-1004(1999)13:3<256::AID-HUMU12>3.0.CO;2-M 10090482
    • (1999) Hum Mutat , vol.13 , pp. 256
    • Claes, K.1    Machackova, E.2    De Vos, M.3    Mortier, G.4    De Paepe, A.5    Messiaen, L.6
  • 15
    • 0028980552 scopus 로고
    • Extended-term cultures of human T-lymphocytes: A practical alternative to primary human lymphocytes for use in genotoxicity testing
    • 10.1093/mutage/10.3.189 7666770
    • O'Donovan MR Freemantle MR Hull G Bell DA Arlett CF Cole J Extended-term cultures of human T-lymphocytes: A practical alternative to primary human lymphocytes for use in genotoxicity testing Mutagenesis 1995, 10:189-201. 10.1093/mutage/10.3.189 7666770
    • (1995) Mutagenesis , vol.10 , pp. 189-201
    • O'Donovan, M.R.1    Freemantle, M.R.2    Hull, G.3    Bell, D.A.4    Arlett, C.F.5    Cole, J.6
  • 16
    • 0031612929 scopus 로고    scopus 로고
    • Recommendations for a nomenclature system for human gene mutations
    • 10.1002/(SICI)1098-1004(1998)11:1<1::AID-HUMU1>3.0.CO;2-O 9450896
    • Antonarakis SE the Nomenclature Working Group Recommendations for a nomenclature system for human gene mutations Hum Mutat 1998, 11:1-3. 10.1002/(SICI)1098-1004(1998)11:1<1::AID-HUMU1>3.0.CO;2-O 9450896
    • (1998) Hum Mutat , vol.11 , pp. 1-3
    • Antonarakis, S.E.1
  • 17
    • 0036466858 scopus 로고    scopus 로고
    • Comprehensive analysis of 989 patients with breast or ovarian cancer provides BRCA1 and BRCA2 mutation profiles and frequencies for the German population
    • 10.1002/ijc.1626 11802209
    • Meindl A German Consortium for Hereditary Breast and Ovarian Cancer Comprehensive analysis of 989 patients with breast or ovarian cancer provides BRCA1 and BRCA2 mutation profiles and frequencies for the German population Int J Cancer 2002 97:472-480. 10.1002/ijc.1626 11802209
    • (2002) Int J Cancer , vol.97 , pp. 472-480
    • Meindl, A.1
  • 18
    • 1942501693 scopus 로고    scopus 로고
    • BRCA1 and BRCA2 germline mutation spectrum and frequencies in Belgian breast/ovarian cancer families
    • 10.1038/sj.bjc.6601656 15026808
    • Claes K Poppe B Coene I Paepe AD Messiaen L BRCA1 and BRCA2 germline mutation spectrum and frequencies in Belgian breast/ovarian cancer families Br J Cancer 2004, 90:1244-51. 10.1038/sj.bjc.6601656 15026808
    • (2004) Br J Cancer , vol.90 , pp. 1244-1251
    • Claes, K.1    Poppe, B.2    Coene, I.3    Paepe, A.D.4    Messiaen, L.5
  • 19
    • 0035798565 scopus 로고    scopus 로고
    • BRCA1 RING domain cancer-predisposing mutations. Structural consequences and effects on protein-protein interactions
    • 10.1074/jbc.M106551200 11526114
    • Brzovic PS Meza JE King MC Klevit RE BRCA1 RING domain cancer-predisposing mutations. Structural consequences and effects on protein-protein interactions J Biol Chem 2001, 276:41399-41406. 10.1074/ jbc.M106551200 11526114
    • (2001) J Biol Chem , vol.276 , pp. 41399-41406
    • Brzovic, P.S.1    Meza, J.E.2    King, M.C.3    Klevit, R.E.4
  • 20
    • 0035942190 scopus 로고    scopus 로고
    • Cancer-predisposing mutations within the RING domain of BRCA1: Loss of ubiquitin protein ligase activity and protection from radiation hypersensitivity
    • 33176 11320250 10.1073/pnas.081068398
    • Ruffner H Joazeiro CAP Hemmati D Hunter T Verma IM Cancer-predisposing mutations within the RING domain of BRCA1: Loss of ubiquitin protein ligase activity and protection from radiation hypersensitivity PNAS 2001, 98:5134-5139. 33176 11320250 10.1073/pnas.081068398
    • (2001) PNAS , vol.98 , pp. 5134-5139
    • Ruffner, H.1    Joazeiro, C.A.P.2    Hemmati, D.3    Hunter, T.4    Verma, I.M.5
  • 24
    • 0035853287 scopus 로고    scopus 로고
    • A novel mutation in the neurofibromatosis type 1 (NF1) gene promotes skipping of two exons by preventing exon definition
    • 10.1006/jmbi.2001.4561 11292340
    • Fang LJ Simard MJ Vidaud D Assouline B Lemieux B Vidaud M Chabot B Thirion JP A novel mutation in the neurofibromatosis type 1 (NF1) gene promotes skipping of two exons by preventing exon definition J Mol Biol 2001, 307:1261-70. 10.1006/jmbi.2001.4561 11292340
    • (2001) J Mol Biol , vol.307 , pp. 1261-1270
    • Fang, L.J.1    Simard, M.J.2    Vidaud, D.3    Assouline, B.4    Lemieux, B.5    Vidaud, M.6    Chabot, B.7    Thirion, J.P.8
  • 25
    • 33745617425 scopus 로고    scopus 로고
    • A missense mutation in exon 13 in BRCA2, c.7235G>A, results in skipping of exon 13
    • 10.1089/gte.2006.10.116 16792514
    • Thomassen M Kruse TA Jensen PK Gerdes AM A missense mutation in exon 13 in BRCA2, c.7235G>A, results in skipping of exon 13 Genet Test 2006, 10:116-120. 10.1089/gte.2006.10.116 16792514
    • (2006) Genet Test , vol.10 , pp. 116-120
    • Thomassen, M.1    Kruse, T.A.2    Jensen, P.K.3    Gerdes, A.M.4
  • 26
    • 0030626999 scopus 로고    scopus 로고
    • Somatic genetics of breast cancer
    • 9180865
    • Bieche I Lidereau R Somatic genetics of breast cancer Bull Cancer 1997, 84:83-96. 9180865
    • (1997) Bull Cancer , vol.84 , pp. 83-96
    • Bieche, I.1    Lidereau, R.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.