메뉴 건너뛰기




Volumn 117, Issue 3, 2009, Pages 497-504

Founder mutations account for the majority of BRCA1-attributable hereditary breast/ovarian cancer cases in a population from Tuscany, Central Italy

Author keywords

BRCA1; BRCA2; Founder mutation; Hereditary breast ovarian cancer; Male breast cancer

Indexed keywords

BRCA1 PROTEIN; BRCA2 PROTEIN;

EID: 70349573778     PISSN: 01676806     EISSN: 15737217     Source Type: Journal    
DOI: 10.1007/s10549-008-0190-3     Document Type: Article
Times cited : (30)

References (31)
  • 1
    • 35748929114 scopus 로고    scopus 로고
    • Founder mutations in BRCA1 and BRCA2 genes
    • 10.1093/annonc/mdm234 17591843 10.1093/annonc/mdm234
    • R Ferla V Calò S Cascio, et al. 2007 Founder mutations in BRCA1 and BRCA2 genes Ann Oncol 18 Suppl 6 vi93 vi98 10.1093/annonc/mdm234 17591843 10.1093/annonc/mdm234
    • (2007) Ann Oncol , vol.18 , Issue.SUPPL 6
    • Ferla, R.1    Calò, V.2    Cascio, S.3
  • 2
    • 0035434628 scopus 로고    scopus 로고
    • Evidence of a founder mutation of BRCA1 in a highly homogeneous population from Southern Italy with breast/ovarian cancer
    • 10.1002/humu.1167 11462242 10.1002/humu.1167 1:STN:280: DC%2BD38%2FisVOitg%3D%3D
    • F Baudi B Quaresima C Grandinetti, et al. 2001 Evidence of a founder mutation of BRCA1 in a highly homogeneous population from Southern Italy with breast/ovarian cancer Hum Mutat 18 163 164 10.1002/humu.1167 11462242 10.1002/humu.1167 1:STN:280:DC%2BD38%2FisVOitg%3D%3D
    • (2001) Hum Mutat , vol.18 , pp. 163-164
    • Baudi, F.1    Quaresima, B.2    Grandinetti, C.3
  • 3
    • 42149149867 scopus 로고    scopus 로고
    • Reconstructing the genealogy of a BRCA1 founder mutation by phylogenetic analysis
    • 10.1111/j.1469-1809.2007.00420.x 18215206 10.1111/j.1469-1809.2007.00420. x 1:CAS:528:DC%2BD1cXmtlSns7w%3D
    • F Marroni G Cipollini B Peissel, et al. 2008 Reconstructing the genealogy of a BRCA1 founder mutation by phylogenetic analysis Ann Hum Genet 72 310 318 10.1111/j.1469-1809.2007.00420.x 18215206 10.1111/j.1469-1809.2007.00420.x 1:CAS:528:DC%2BD1cXmtlSns7w%3D
    • (2008) Ann Hum Genet , vol.72 , pp. 310-318
    • Marroni, F.1    Cipollini, G.2    Peissel, B.3
  • 4
    • 37849010906 scopus 로고    scopus 로고
    • BRCA1 p.Val1688del is a deleterious mutation that recurs in breast and ovarian cancer families from Northeast Italy
    • 10.1200/JCO.2007.13.2118 18165637 10.1200/JCO.2007.13.2118 1:CAS:528:DC%2BD1cXhsVCrs7Y%3D
    • S Malacrida S Agata M Callegaro, et al. 2008 BRCA1 p.Val1688del is a deleterious mutation that recurs in breast and ovarian cancer families from Northeast Italy J Clin Oncol 26 26 31 10.1200/JCO.2007.13.2118 18165637 10.1200/JCO.2007.13.2118 1:CAS:528:DC%2BD1cXhsVCrs7Y%3D
    • (2008) J Clin Oncol , vol.26 , pp. 26-31
    • Malacrida, S.1    Agata, S.2    Callegaro, M.3
  • 5
    • 0033950773 scopus 로고    scopus 로고
    • Identification of a founder BRCA2 mutation in Sardinia
    • 10.1054/bjoc.1999.0963 10682665 10.1054/bjoc.1999.0963 1:CAS:528:DC%2BD3cXht1eisLw%3D
    • M Pisano A Cossu I Persico, et al. 2000 Identification of a founder BRCA2 mutation in Sardinia Br J Cancer 82 553 559 10.1054/bjoc.1999.0963 10682665 10.1054/bjoc.1999.0963 1:CAS:528:DC%2BD3cXht1eisLw%3D
    • (2000) Br J Cancer , vol.82 , pp. 553-559
    • Pisano, M.1    Cossu, A.2    Persico, I.3
  • 6
    • 33847135671 scopus 로고    scopus 로고
    • Identification of a founder BRCA2 mutation in Sardinian breast cancer families
    • DOI 10.1007/s10689-006-9107-7
    • M Monne G Piras P Fancello, et al. 2007 Identification of a founder BRCA2 mutation in Sardinian breast cancer families Fam Cancer 6 73 79 10.1007/s10689-006-9107-7 17216544 10.1007/s10689-006-9107-7 1:CAS:528:DC%2BD2sXhslWjtr0%3D (Pubitemid 46295301)
    • (2007) Familial Cancer , vol.6 , Issue.1 , pp. 73-79
    • Monne, M.1    Piras, G.2    Fancello, P.3    Santona, M.C.4    Uras, A.5    Landriscina, G.6    Mastio, G.7    Gabbas, A.8
  • 8
    • 70349581484 scopus 로고    scopus 로고
    • BRCA1/BRCA2 mutation status and clinical-pathologic features of 108 male breast cancer cases from Tuscany: A population-based study in Central Italy
    • 10.1007/s10549-008-0194-z
    • L Ottini P Rizzolo I Zanna, et al. 2008 BRCA1/BRCA2 mutation status and clinical-pathologic features of 108 male breast cancer cases from Tuscany: a population-based study in Central Italy Breast Cancer Res Treat 10.1007/s10549-008-0194-z
    • (2008) Breast Cancer Res Treat
    • Ottini, L.1    Rizzolo, P.2    Zanna, I.3
  • 9
    • 0036300177 scopus 로고    scopus 로고
    • DMLE+: Bayesian linkage disequilibrium gene mapping
    • 10.1093/bioinformatics/18.6.894 12075030 10.1093/bioinformatics/18.6.894 1:CAS:528:DC%2BD38Xlt1Srur0%3D
    • JP Reeve B Rannala 2002 DMLE+: Bayesian linkage disequilibrium gene mapping Bioinformatics 18 894 895 10.1093/bioinformatics/18.6.894 12075030 10.1093/bioinformatics/18.6.894 1:CAS:528:DC%2BD38Xlt1Srur0%3D
    • (2002) Bioinformatics , vol.18 , pp. 894-895
    • Reeve, J.P.1    Rannala, B.2
  • 10
    • 0034973984 scopus 로고    scopus 로고
    • High-resolution multipoint linkage-disequilibrium mapping in the context of a human genome sequence
    • DOI 10.1086/321279
    • B Rannala JP Reeve 2001 High-resolution multipoint linkage-disequilibrium mapping in the context of a human genome sequence Am J Hum Genet 69 159 178 10.1086/321279 11410841 10.1086/321279 1:CAS:528:DC%2BD3MXls1emt7c%3D (Pubitemid 32614028)
    • (2001) American Journal of Human Genetics , vol.69 , Issue.1 , pp. 159-178
    • Rannala, B.1    Reeve, J.P.2
  • 12
    • 70349565334 scopus 로고
    • In: Del Panta L, Sonnino E (eds) Le Lettere, Firenze 695
    • Beloch KJ (1995) Storia della popolazione d'Italia. In: Del Panta L, Sonnino E (eds) Le Lettere, Firenze, pp xxxii, 695
    • (1995) Storia della Popolazione d'Italia
    • Beloch, K.J.1
  • 13
    • 0028826709 scopus 로고
    • Estimates of the gene frequency of BRCA1 and its contribution to breast and ovarian cancer incidence
    • 8533776 1:CAS:528:DyaK28XktFSisw%3D%3D
    • D Ford DF Easton J Peto 1995 Estimates of the gene frequency of BRCA1 and its contribution to breast and ovarian cancer incidence Am J Hum Genet 57 1457 1462 8533776 1:CAS:528:DyaK28XktFSisw%3D%3D
    • (1995) Am J Hum Genet , vol.57 , pp. 1457-1462
    • Ford, D.1    Easton, D.F.2    Peto, J.3
  • 14
    • 0031025322 scopus 로고    scopus 로고
    • Prevalence and contribution of BRCA1 mutations in breast cancer and ovarian cancer: Results from three US population-based case-control studies of ovarian cancer
    • 9042908 1:STN:280:DyaK2s7psFGgtw%3D%3D
    • AS Whittemore G Gong J Itnyre 1997 Prevalence and contribution of BRCA1 mutations in breast cancer and ovarian cancer: results from three US population-based case-control studies of ovarian cancer Am J Hum Genet 60 496 504 9042908 1:STN:280:DyaK2s7psFGgtw%3D%3D
    • (1997) Am J Hum Genet , vol.60 , pp. 496-504
    • Whittemore, A.S.1    Gong, G.2    Itnyre, J.3
  • 15
    • 33845654907 scopus 로고    scopus 로고
    • Population BRCA1 and BRCA2 mutation frequencies and cancer penetrances: A kin-cohort study in Ontario, Canada
    • 17148771 1:CAS:528:DC%2BD28XhtlCru7nJ
    • HA Risch JR McLaughlin DE Cole, et al. 2006 Population BRCA1 and BRCA2 mutation frequencies and cancer penetrances: a kin-cohort study in Ontario, Canada J Natl Cancer Inst 98 1694 1706 17148771 1:CAS:528:DC%2BD28XhtlCru7nJ
    • (2006) J Natl Cancer Inst , vol.98 , pp. 1694-1706
    • Risch, H.A.1    McLaughlin, J.R.2    Cole, D.E.3
  • 16
    • 11144232963 scopus 로고    scopus 로고
    • Prevalence of BRCA1 mutation carriers among US non-Hispanic whites
    • 15598764 1:CAS:528:DC%2BD2cXhtVOjsLvF
    • AS Whittemore G Gong EM John, et al. 2004 Prevalence of BRCA1 mutation carriers among US non-Hispanic whites Cancer Epidemiol Biomarkers Prev 13 2078 2083 15598764 1:CAS:528:DC%2BD2cXhtVOjsLvF
    • (2004) Cancer Epidemiol Biomarkers Prev , vol.13 , pp. 2078-2083
    • Whittemore, A.S.1    Gong, G.2    John, E.M.3
  • 19
    • 0037439707 scopus 로고    scopus 로고
    • BRCA1 and BRCA2 mutation status and tumor characteristics in male breast cancer: A population-based study in Italy
    • 12543786 1:CAS:528:DC%2BD3sXnt1KktA%3D%3D
    • L Ottini G Masala C D'Amico, et al. 2003 BRCA1 and BRCA2 mutation status and tumor characteristics in male breast cancer: a population-based study in Italy Cancer Res 63 342 347 12543786 1:CAS:528:DC%2BD3sXnt1KktA%3D%3D
    • (2003) Cancer Res , vol.63 , pp. 342-347
    • Ottini, L.1    Masala, G.2    D'Amico, C.3
  • 20
    • 0034578466 scopus 로고    scopus 로고
    • Estimating allele age
    • 10.1146/annurev.genom.1.1.225 11701630 10.1146/annurev.genom.1.1.225 1:CAS:528:DC%2BD3cXnsVaku7c%3D
    • M Slatkin B Rannala 2000 Estimating allele age Annu Rev Genomics Hum Genet 1 225 249 10.1146/annurev.genom.1.1.225 11701630 10.1146/annurev.genom.1. 1.225 1:CAS:528:DC%2BD3cXnsVaku7c%3D
    • (2000) Annu Rev Genomics Hum Genet , vol.1 , pp. 225-249
    • Slatkin, M.1    Rannala, B.2
  • 21
    • 16944365740 scopus 로고    scopus 로고
    • Cancer risks in two large breast cancer families linked to BRCA2 on chromosome 13q12-13
    • 10.1086/513891 9245992 10.1086/513891 1:STN:280:DyaK2szovVOmuw%3D%3D
    • DF Easton L Steele P Fields, et al. 1997 Cancer risks in two large breast cancer families linked to BRCA2 on chromosome 13q12-13 Am J Hum Genet 61 120 128 10.1086/513891 9245992 10.1086/513891 1:STN:280:DyaK2szovVOmuw%3D%3D
    • (1997) Am J Hum Genet , vol.61 , pp. 120-128
    • Easton, D.F.1    Steele, L.2    Fields, P.3
  • 22
    • 38449107978 scopus 로고    scopus 로고
    • Breast cancer risk among male BRCA1 and BRCA2 mutation carriers
    • DOI 10.1093/jnci/djm203
    • YC Tai S Domchek G Parmigiani, et al. 2007 Breast cancer risk among male BRCA1 and BRCA2 mutation carriers J Natl Cancer Inst 99 1811 1814 10.1093/jnci/djm203 18042939 10.1093/jnci/djm203 1:CAS:528: DC%2BD1cXnvVWgsg%3D%3D (Pubitemid 351767200)
    • (2007) Journal of the National Cancer Institute , vol.99 , Issue.23 , pp. 1811-1814
    • Tai, Y.C.1    Domchek, S.2    Parmigiani, G.3    Chen, S.4
  • 23
    • 0031018551 scopus 로고    scopus 로고
    • Mutation analysis of BRCA1 and BRCA2 in a male breast cancer population
    • 9012404 1:CAS:528:DyaK2sXhtVCju70%3D
    • LS Friedman SA Gayther T Kurosaki, et al. 1997 Mutation analysis of BRCA1 and BRCA2 in a male breast cancer population Am J Hum Genet 60 313 319 9012404 1:CAS:528:DyaK2sXhtVCju70%3D
    • (1997) Am J Hum Genet , vol.60 , pp. 313-319
    • Friedman, L.S.1    Gayther, S.A.2    Kurosaki, T.3
  • 24
    • 0033104409 scopus 로고    scopus 로고
    • High frequency of germ-line BRCA2 mutations among Hungarian male breast cancer patients without family history
    • B Csokay N Udvarhelyi Z Sulyok, et al. 1997 High frequency of germ-line BRCA2 mutations among Hungarian male breast cancer patients without family history Cancer Res 59 995 998
    • (1997) Cancer Res , vol.59 , pp. 995-998
    • Csokay, B.1    Udvarhelyi, N.2    Sulyok, Z.3
  • 25
    • 45749087330 scopus 로고    scopus 로고
    • BRCA1/2 mutation analysis in male breast cancer families from North West England
    • DOI 10.1007/s10689-007-9153-9
    • DG Evans M Bulman K Young, et al. 2008 BRCA1/2 mutation analysis in male breast cancer families from North West England Fam Cancer 7 113 117 10.1007/s10689-007-9153-9 17636422 10.1007/s10689-007-9153-9 1:CAS:528:DC%2BD1cXnt1Cju7Y%3D (Pubitemid 351871902)
    • (2008) Familial Cancer , vol.7 , Issue.2 , pp. 113-117
    • Evans, D.G.R.1    Bulman, M.2    Young, K.3    Howard, E.4    Bayliss, S.5    Wallace, A.6    Lalloo, F.7
  • 26
    • 0037130889 scopus 로고    scopus 로고
    • Cancer risk estimates for BRCA1 mutation carriers identified in a risk evaluation program
    • 12237282 1:CAS:528:DC%2BD38Xnt1Gnurg%3D
    • MS Brose TR Rebbeck KA Calzone, et al. 2002 Cancer risk estimates for BRCA1 mutation carriers identified in a risk evaluation program J Natl Cancer Inst 94 1365 1372 12237282 1:CAS:528:DC%2BD38Xnt1Gnurg%3D
    • (2002) J Natl Cancer Inst , vol.94 , pp. 1365-1372
    • Brose, M.S.1    Rebbeck, T.R.2    Calzone, K.A.3
  • 29
    • 16944365091 scopus 로고    scopus 로고
    • A high proportion of novel mutations in BRCA1 with strong founder effects among Dutch and Belgian hereditary breast and ovarian cancer families
    • 9150151 1:CAS:528:DyaK2sXjtlOqsr8%3D
    • T Peelen M van Vliet A Petrij-Bosch, et al. 1997 A high proportion of novel mutations in BRCA1 with strong founder effects among Dutch and Belgian hereditary breast and ovarian cancer families Am J Hum Genet 60 1041 1049 9150151 1:CAS:528:DyaK2sXjtlOqsr8%3D
    • (1997) Am J Hum Genet , vol.60 , pp. 1041-1049
    • Peelen, T.1    Van Vliet, M.2    Petrij-Bosch, A.3
  • 30
    • 19144362921 scopus 로고    scopus 로고
    • Haplotype and phenotype analysis of six recurrent BRCA1 mutations in 61 families: Results of an international study
    • 8571953 1:CAS:528:DyaK28XhsFWitb8%3D
    • SL Neuhausen S Mazoyer L Friedman, et al. 1996 Haplotype and phenotype analysis of six recurrent BRCA1 mutations in 61 families: results of an international study Am J Hum Genet 58 271 280 8571953 1:CAS:528: DyaK28XhsFWitb8%3D
    • (1996) Am J Hum Genet , vol.58 , pp. 271-280
    • Neuhausen, S.L.1    Mazoyer, S.2    Friedman, L.3
  • 31
    • 34249932412 scopus 로고    scopus 로고
    • Screening for a BRCA2 rearrangement in high-risk breast/ovarian cancer families: Evidence for a founder effect and analysis of the associated phenotypes
    • DOI 10.1200/JCO.2006.06.9443
    • PM Machado RD Brandão BM Cavaco, et al. 2007 Screening for a BRCA2 rearrangement in high-risk breast/ovarian cancer families: evidence for a founder effect and analysis of the associated phenotypes J Clin Oncol 25 2027 2034 10.1200/JCO.2006.06.9443 17513806 10.1200/JCO.2006.06.9443 1:CAS:528:DC%2BD2sXmvVWms74%3D (Pubitemid 46972787)
    • (2007) Journal of Clinical Oncology , vol.25 , Issue.15 , pp. 2027-2034
    • Machado, P.M.1    Brandao, R.D.2    Cavaco, B.M.3    Eugenio, J.4    Bento, S.5    Nave, M.6    Rodrigues, P.7    Fernandes, A.8    Vaz, F.9


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.