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Volumn 106, Issue 2, 2007, Pages 255-262

Differences in the frequency and distribution of BRCA1 and BRCA2 mutations in breast/ovarian cancer cases from the Basque country with respect to the Spanish population: Implications for genetic counselling

Author keywords

BRCA1; BRCA2; Breast cancer; Genetic counselling; Ovarian cancer; UCV

Indexed keywords

BRCA1 PROTEIN; BRCA2 PROTEIN;

EID: 35748952836     PISSN: 01676806     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10549-006-9489-0     Document Type: Article
Times cited : (26)

References (29)
  • 1
    • 33748110809 scopus 로고    scopus 로고
    • Breast cancer susceptibility testing: Past, present and future
    • 8
    • Goldberg JI, Borgen JI (2006) Breast cancer susceptibility testing: past, present and future. Expert Rev Anticancer Ther 6(8):1205-1214
    • (2006) Expert Rev Anticancer Ther , vol.6 , pp. 1205-1214
    • Goldberg, J.I.1    Borgen, J.I.2
  • 2
    • 0028113345 scopus 로고
    • A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1
    • Miki Y, Swensen J, Shattuck-Eidens D et al (1994) A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science 266:66-71
    • (1994) Science , vol.266 , pp. 66-71
    • Miki, Y.1    Swensen, J.2    Shattuck-Eidens, D.3
  • 3
    • 0006713602 scopus 로고
    • Identification of the breast cancer susceptibility gene BRCA2
    • Wooster R, Bignell G, Lancaster J et al (1995) Identification of the breast cancer susceptibility gene BRCA2. Nature 378:789-792
    • (1995) Nature , vol.378 , pp. 789-792
    • Wooster, R.1    Bignell, G.2    Lancaster, J.3
  • 4
    • 4544336084 scopus 로고    scopus 로고
    • Integrated evaluation of DNA sequence variants of unknown clinical significance: Application to BRCA1 and BRCA2
    • Goldgar DE, Easton DF, Deffenbaugh AM et al (2004) Integrated evaluation of DNA sequence variants of unknown clinical significance: application to BRCA1 and BRCA2. Am J Hum Genet 75:535-544
    • (2004) Am J Hum Genet , vol.75 , pp. 535-544
    • Goldgar, D.E.1    Easton, D.F.2    Deffenbaugh, A.M.3
  • 5
    • 12544252133 scopus 로고    scopus 로고
    • Functional evaluation and cancer risk assessment of BRCA2 unclassified variants
    • 2
    • Wu K, Hinson SR, Ohashi A et al (2005) Functional evaluation and cancer risk assessment of BRCA2 unclassified variants. Cancer Res 65(2):417-426
    • (2005) Cancer Res , vol.65 , pp. 417-426
    • Wu, K.1    Hinson, S.R.2    Ohashi, A.3
  • 6
    • 0030902227 scopus 로고    scopus 로고
    • Population genetics of BRCA1 and BRCA2
    • Szabo CI, King MC (1997) Population genetics of BRCA1 and BRCA2. Am J Hum Genet 60:1013-1020
    • (1997) Am J Hum Genet , vol.60 , pp. 1013-1020
    • Szabo, C.I.1    King, M.C.2
  • 7
    • 34247542087 scopus 로고    scopus 로고
    • CHEK2 1100delC is present in familial breast cancer cases of the Basque Country
    • DOI 10.1007/s10549-0069351-4
    • Martinez-Bouzas C, Beristain E, Guerra I et al (2006) CHEK2 1100delC is present in familial breast cancer cases of the Basque Country. Breast Cancer Res Treat. DOI 10.1007/s10549-0069351-4
    • (2006) Breast Cancer Res Treat
    • Martinez-Bouzas, C.1    Beristain, E.2    Guerra, I.3
  • 8
    • 0024284028 scopus 로고
    • A simple salting out procedure for extracting DNA from human nucleated cells
    • 3
    • Miller SA, Dykes DD, Polesky HF (1988) A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 16(3):1215
    • (1988) Nucleic Acids Res , vol.16 , pp. 1215
    • Miller, S.A.1    Dykes, D.D.2    Polesky, H.F.3
  • 9
    • 0037389808 scopus 로고    scopus 로고
    • Mutational analysis of BRCA2 in Spanish breast cancer patients from Castilla-León: Identification of four novel truncating mutations
    • Duran M, Esteban-Cardenosa E, Velasco E et al (2003) Mutational analysis of BRCA2 in Spanish breast cancer patients from Castilla-León: identification of four novel truncating mutations. Hum Mutat 21:448
    • (2003) Hum Mutat , vol.21 , pp. 448
    • Duran, M.1    Esteban-Cardenosa, E.2    Velasco, E.3
  • 10
    • 0027433113 scopus 로고
    • Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DNA fragments: Evidence for solvent-induced bends in DNA heteroduplexes
    • Ganguly A, Rock MJ, Prockop DJ (1993) Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DNA fragments: evidence for solvent-induced bends in DNA heteroduplexes. Proc Natl Acad Sci 90:10325-10329
    • (1993) Proc Natl Acad Sci , vol.90 , pp. 10325-10329
    • Ganguly, A.1    Rock, M.J.2    Prockop, D.J.3
  • 11
    • 0034526068 scopus 로고    scopus 로고
    • Transcription of the FMRN1 gene in individuals with fragile X syndrome
    • 3
    • Tasonne F, Hagerman RJ, Chamberlain WD et al (2000) Transcription of the FMRN1 gene in individuals with fragile X syndrome. Am J Med Genet 97(3):195-203
    • (2000) Am J Med Genet , vol.97 , pp. 195-203
    • Tasonne, F.1    Hagerman, R.J.2    Chamberlain, W.D.3
  • 12
    • 33745910586 scopus 로고    scopus 로고
    • High proportion of novel mutations of BRCA1 and BRCA2 in breast cancer patients from Castilla-León (central Spain)
    • Infante M, Durán M, Esteban-Cardeñosa E et al (2006) High proportion of novel mutations of BRCA1 and BRCA2 in breast cancer patients from Castilla-León (central Spain). J Hum Genet 51:611-617
    • (2006) J Hum Genet , vol.51 , pp. 611-617
    • Infante, M.1    Durán, M.2    Esteban-Cardeñosa, E.3
  • 13
    • 10744232814 scopus 로고    scopus 로고
    • Analysis of BRCA1 and BRCA2 genes in Spanish breast/ovarian cancer patients: A high proportion of mutations unique to Spain and evidence of founder effects
    • Diez O, Osorio A, Durán M et al (2003) Analysis of BRCA1 and BRCA2 genes in Spanish breast/ovarian cancer patients: a high proportion of mutations unique to Spain and evidence of founder effects. Hum Mutat 22:301-312
    • (2003) Hum Mutat , vol.22 , pp. 301-312
    • Diez, O.1    Osorio, A.2    Durán, M.3
  • 14
    • 33745616595 scopus 로고    scopus 로고
    • Novel BRCA1 and BRCA2 germline mutations and assessment of mutation spectrum and prevalence in Italian breast and/or ovarian cancer families
    • 1
    • Giannini G, Capalbo C, Ristori E et al (2006) Novel BRCA1 and BRCA2 germline mutations and assessment of mutation spectrum and prevalence in Italian breast and/or ovarian cancer families. Breast Cancer Res Treat 100(1):83-91
    • (2006) Breast Cancer Res Treat , vol.100 , pp. 83-91
    • Giannini, G.1    Capalbo, C.2    Ristori, E.3
  • 15
    • 32244439893 scopus 로고    scopus 로고
    • BRCA1-2 mutations in breast cancer: Identification of nine new variants of BRCA1-2 genes in a population from central Western Spain
    • Salazar R, Cruz-Hernández JJ, Sanchez-Valdivieso E et al (2006) BRCA1-2 mutations in breast cancer: identification of nine new variants of BRCA1-2 genes in a population from central Western Spain. Cancer Lett 233:172-177
    • (2006) Cancer Lett , vol.233 , pp. 172-177
    • Salazar, R.1    Cruz-Hernández, J.J.2    Sanchez-Valdivieso, E.3
  • 16
    • 0036466857 scopus 로고    scopus 로고
    • Association between BRCA1 and BRCA2 mutations and cancer phenotype in Spanish breast/ovarian cancer families: Implications for genetic testing
    • de la Hoya M, Osorio A, Godino J et al (2002) Association between BRCA1 and BRCA2 mutations and cancer phenotype in Spanish breast/ovarian cancer families: implications for genetic testing. Int J Cancer 97:466-471
    • (2002) Int J Cancer , vol.97 , pp. 466-471
    • De La Hoya, M.1    Osorio, A.2    Godino, J.3
  • 17
    • 0037389269 scopus 로고    scopus 로고
    • Haplotype analysis of the BRCA2 9254delATCAT recurrent mutation in breast/ovarian cancer families from Spain
    • 4
    • Campos B, Diez O, Odefrey F et al (2003) Haplotype analysis of the BRCA2 9254delATCAT recurrent mutation in breast/ovarian cancer families from Spain. Hum Mutat 21(4):452-457
    • (2003) Hum Mutat , vol.21 , pp. 452-457
    • Campos, B.1    Diez, O.2    Odefrey, F.3
  • 18
    • 2142744874 scopus 로고    scopus 로고
    • RNA analysis of eight BRCA1 and BRCA2 unclassified variants identified in breast/ovarian cancer families from Spain
    • 4
    • Campos B, Diez O, Domènech M et al (2003) RNA analysis of eight BRCA1 and BRCA2 unclassified variants identified in breast/ovarian cancer families from Spain. Hum Mutat 22(4):337
    • (2003) Hum Mutat , vol.22 , pp. 337
    • Campos, B.1    Diez, O.2    Domènech, M.3
  • 19
    • 0037610801 scopus 로고    scopus 로고
    • Binding and recognition in the assembly of an active BRCA1/BARD1 ubiquitin-ligase complex
    • 10
    • Brzovic PS, Keeffe JR, Nishikawa H et al (2003) Binding and recognition in the assembly of an active BRCA1/BARD1 ubiquitin-ligase complex. PNAS 100(10):5646-5651
    • (2003) PNAS , vol.100 , pp. 5646-5651
    • Brzovic, P.S.1    Keeffe, J.R.2    Nishikawa, H.3
  • 20
    • 0037052688 scopus 로고    scopus 로고
    • Loss of heterozygosity analysis at the BRCA loci in tumor samples from patients with familial breast cancer
    • Osorio A, de la Hoya M, Rodriguez-Lopez R et al (2002) Loss of heterozygosity analysis at the BRCA loci in tumor samples from patients with familial breast cancer. Int J Cancer 99:305-309
    • (2002) Int J Cancer , vol.99 , pp. 305-309
    • Osorio, A.1    De La Hoya, M.2    Rodriguez-Lopez, R.3
  • 21
    • 2542543477 scopus 로고    scopus 로고
    • Structure-based assessment of missense mutations in human BRCA1: Implications for breast and ovarian cancer predisposition
    • Mirkovic N, Marti-Renom MA, Weber BL et al (2004) Structure-based assessment of missense mutations in human BRCA1: implications for breast and ovarian cancer predisposition. Cancer Res 64:3790-3797
    • (2004) Cancer Res , vol.64 , pp. 3790-3797
    • Mirkovic, N.1    Marti-Renom, M.A.2    Weber, B.L.3
  • 22
    • 0037427075 scopus 로고    scopus 로고
    • Interaction between BRCA2 and replication protein a is compromised by a cancer-predisposing mutation in BRCA2
    • Wong JMS, Ionescu D, Ingles CJ (2003) Interaction between BRCA2 and replication protein A is compromised by a cancer-predisposing mutation in BRCA2. Oncogene 22:28-33
    • (2003) Oncogene , vol.22 , pp. 28-33
    • Wong, J.M.S.1    Ionescu, D.2    Ingles, C.J.3
  • 23
    • 16144368180 scopus 로고    scopus 로고
    • A polymorphic stop codon in BRCA2
    • Mazoyer S, Dunning AM, Serova O et al (1996) A polymorphic stop codon in BRCA2. Nat Genet 14:253-254
    • (1996) Nat Genet , vol.14 , pp. 253-254
    • Mazoyer, S.1    Dunning, A.M.2    Serova, O.3
  • 24
    • 19944414645 scopus 로고    scopus 로고
    • Increased prevalence of the BRCA2 polymorphic stop codon K3326X among individuals with familial pancreatic cancer
    • Martin ST, Matsubayashi H, Rogers CD et al (2005) Increased prevalence of the BRCA2 polymorphic stop codon K3326X among individuals with familial pancreatic cancer. Oncogene 24:3652-3656
    • (2005) Oncogene , vol.24 , pp. 3652-3656
    • Martin, S.T.1    Matsubayashi, H.2    Rogers, C.D.3
  • 25
    • 0042242582 scopus 로고    scopus 로고
    • ESEfinder: A web resource to identify exonic splicing enhancers
    • 13
    • Cartegni L, Wang J, Zhu Z et al (2003) ESEfinder: a web resource to identify exonic splicing enhancers. Nucleic Acids Res 31(13):3568-3571
    • (2003) Nucleic Acids Res , vol.31 , pp. 3568-3571
    • Cartegni, L.1    Wang, J.2    Zhu, Z.3
  • 27
    • 0037222306 scopus 로고    scopus 로고
    • Two percent of men with early-onset prostate cancer harbor germline mutations in the BRCA2 gene
    • Edwards SM, Kote-jarai Z, Meitz J et al (2003) Two percent of men with early-onset prostate cancer harbor germline mutations in the BRCA2 gene. Am J Hum Genet 72:1-12
    • (2003) Am J Hum Genet , vol.72 , pp. 1-12
    • Edwards, S.M.1    Kote-Jarai, Z.2    Meitz, J.3
  • 28
    • 0038207961 scopus 로고    scopus 로고
    • Differentiating pathogenic mutations from polymorphic alterations in the splice sites of BRCA1 and BRCA2
    • 3
    • Claes K, Poppe B, Machackova E et al (2003) Differentiating pathogenic mutations from polymorphic alterations in the splice sites of BRCA1 and BRCA2. Genes Chromosomes Cancer 37(3):314-320
    • (2003) Genes Chromosomes Cancer , vol.37 , pp. 314-320
    • Claes, K.1    Poppe, B.2    MacHackova, E.3
  • 29
    • 20344371483 scopus 로고    scopus 로고
    • Prevalence of widespread BRCA1 gene mutations in patients with familial breast cancer from St. Petersburg
    • 3
    • Grudinina NA, Golubkov VI, Tikhomirova OS et al (2005) Prevalence of widespread BRCA1 gene mutations in patients with familial breast cancer from St. Petersburg. Genetika 41(3):405-410
    • (2005) Genetika , vol.41 , pp. 405-410
    • Grudinina, N.A.1    Golubkov, V.I.2    Tikhomirova, O.S.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.