메뉴 건너뛰기




Volumn 40, Issue D1, 2012, Pages

Description and analysis of genetic variants in French hereditary breast and ovarian cancer families recorded in the UMD-BRCA1/BRCA2 databases

(42)  Caputo, Sandrine a   Benboudjema, Louisa a   Sinilnikova, Olga b,c   Rouleau, Etienne a   Béroud, Christophe a   Lidereau, Rosette d,e,f   Sevenet, Nicolas g   Bonnet, Françoise g   Longy, Michel g   Hardouin, Agnès h   Vaur, Dominique h   Krieger, Sophie h   Uhrhammer, Nancy i   Bignon, Yves Jean i   Peyrat, Jean Philippe j   Revillion, Françoise j   Fournier, Jöelle j   Remenieras, Audrey k,l   Mazoyer, Sylvie k   Léone, Mélanie b   more..

d INSERM   (France)

Author keywords

[No Author keywords available]

Indexed keywords

BRCA1 PROTEIN; BRCA2 PROTEIN;

EID: 84862173376     PISSN: 03051048     EISSN: 13624962     Source Type: Journal    
DOI: 10.1093/nar/gkr1160     Document Type: Article
Times cited : (76)

References (61)
  • 1
    • 18744401644 scopus 로고    scopus 로고
    • Genomic rearrangements in the BRCA1 and BRCA2 genes
    • Mazoyer,S. (2005) Genomic rearrangements in the BRCA1 and BRCA2 genes. Hum. Mutat., 25, 415-422.
    • (2005) Hum. Mutat. , vol.25 , pp. 415-422
    • Mazoyer, S.1
  • 2
    • 78649331127 scopus 로고    scopus 로고
    • Large genomic rearrangements of the BRCA1 and BRCA2 genes: Review of the literature and report of a novel BRCA1 mutation
    • Sluiter,M.D. and van Rensburg,E.J. (2010) Large genomic rearrangements of the BRCA1 and BRCA2 genes: review of the literature and report of a novel BRCA1 mutation. Breast Cancer Res. Treat, 125, 325-349.
    • (2010) Breast Cancer Res. Treat , vol.125 , pp. 325-349
    • Sluiter, M.D.1    Van Rensburg, E.J.2
  • 3
    • 84862220133 scopus 로고    scopus 로고
    • INCa. Institut National du Cancer, Boulogne-Billancourt
    • INCa. (2010) Consultations et Laboratoires. Institut National du Cancer, Boulogne-Billancourt.
    • (2010) Consultations et Laboratoires
  • 4
    • 30544452112 scopus 로고    scopus 로고
    • Does nonsense-mediated mRNA decay explain the ovarian cancer cluster region of the BRCA2 gene?
    • DOI 10.1038/sj.onc.1209033, PII 1209033
    • Ware,M.D., DeSilva,D., Sinilnikova,O.M., Stoppa-Lyonnet,D., Tavtigian,S.V. and Mazoyer,S. (2006) Does nonsense-mediated mRNA decay explain the ovarian cancer cluster region of the BRCA2 gene? Oncogene, 25, 323-328. (Pubitemid 43083695)
    • (2006) Oncogene , vol.25 , Issue.2 , pp. 323-328
    • Ware, M.D.1    DeSilva, D.2    Sinilnikova, O.M.3    Stoppa-Lyonnet, D.4    Tavtigian, S.V.5    Mazoyer, S.6
  • 7
  • 9
    • 33644881658 scopus 로고    scopus 로고
    • BRCA1 and BRCA2 mutations in breast and ovarian cancer syndrome: Reflection on the Creighton University historical series of high risk families
    • DOI 10.1007/s10689-005-2571-7
    • Sinilnikova,O.M., Mazoyer,S., Bonnardel,C., Lynch,H.T., Narod,S.A. and Lenoir,G.M. (2006) BRCA1 and BRCA2 mutations in breast and ovarian cancer syndrome: reflection on the Creighton University historical series of high risk families. Fam. Cancer, 5, 15-20. (Pubitemid 43384315)
    • (2006) Familial Cancer , vol.5 , Issue.1 , pp. 15-20
    • Sinilnikova, O.M.1    Mazoyer, S.2    Bonnardel, C.3    Lynch, H.T.4    Narod, S.A.5    Lenoir, G.M.6
  • 10
    • 32144463131 scopus 로고    scopus 로고
    • Genetic analysis of BRCA1 ubiquitin ligase activity and its relationship to breast cancer susceptibility
    • DOI 10.1093/hmg/ddi476
    • Morris,J.R., Pangon,L., Boutell,C., Katagiri,T., Keep,N.H. and Solomon,E. (2006) Genetic analysis of BRCA1 ubiquitin ligase activity and its relationship to breast cancer susceptibility. Hum. Mol. Genet., 15, 599-606. (Pubitemid 43205424)
    • (2006) Human Molecular Genetics , vol.15 , Issue.4 , pp. 599-606
    • Morris, J.R.1    Pangon, L.2    Boutell, C.3    Katagiri, T.4    Keep, N.H.5    Solomon, E.6
  • 11
    • 55549137442 scopus 로고    scopus 로고
    • Genetic evidence and integration of various data sources for classifying uncertain variants into a single model
    • Goldgar,D.E., Easton,D.F., Byrnes,G.B., Spurdle,A.B., Iversen,E.S. and Greenblatt,M.S. (2008) Genetic evidence and integration of various data sources for classifying uncertain variants into a single model. Hum. Mutat., 29, 1265-1272.
    • (2008) Hum. Mutat. , vol.29 , pp. 1265-1272
    • Goldgar, D.E.1    Easton, D.F.2    Byrnes, G.B.3    Spurdle, A.B.4    Iversen, E.S.5    Greenblatt, M.S.6
  • 13
    • 44849135866 scopus 로고    scopus 로고
    • Evaluation of unclassified variants in the breast cancer susceptibility genes BRCA1 and BRCA2 using five methods: Results from a population-based study of young breast cancer patients
    • Lee,E., McKean-Cowdin,R., Ma,H., Chen,Z., Van Den Berg,D., Henderson,B.E., Bernstein,L. and Ursin,G. (2008) Evaluation of unclassified variants in the breast cancer susceptibility genes BRCA1 and BRCA2 using five methods: results from a population-based study of young breast cancer patients. Breast Cancer Res., 10, R19.
    • (2008) Breast Cancer Res. , vol.10
    • Lee, E.1    McKean-Cowdin, R.2    Ma, H.3    Chen, Z.4    Van Den Berg, D.5    Henderson, B.E.6    Bernstein, L.7    Ursin, G.8
  • 14
    • 27544483543 scopus 로고    scopus 로고
    • Application of embryonic lethal or other obvious phenotypes to characterize the clinical significance of genetic variants found in trans with known deleterious mutations
    • DOI 10.1158/0008-5472.CAN-05-1241
    • Judkins,T., Hendrickson,B.C., Deffenbaugh,A.M., Eliason,K., Leclair,B., Norton,M.J., Ward,B.E., Pruss,D. and Scholl,T. (2005) Application of embryonic lethal or other obvious phenotypes to characterize the clinical significance of genetic variants found in trans with known deleterious mutations. Cancer Res., 65, 10096-10103. (Pubitemid 41541492)
    • (2005) Cancer Research , vol.65 , Issue.21 , pp. 10096-10103
    • Judkins, T.1    Hendrickson, B.C.2    Deffenbaugh, A.M.3    Eliason, K.4    Leclair, B.5    Norton, M.J.6    Ward, B.E.7    Pruss, D.8    Scholl, T.9
  • 17
    • 66349136835 scopus 로고    scopus 로고
    • UMD-predictor, a new prediction tool for nucleotide substitution pathogenicity - Application to four genes: FBN1, FBN2, TGFBR1, and TGFBR2
    • Frederic,M.Y., Lalande,M., Boileau,C., Hamroun,D., Claustres,M., Beroud,C. and Collod-Beroud,G. (2009) UMD-predictor, a new prediction tool for nucleotide substitution pathogenicity - application to four genes: FBN1, FBN2, TGFBR1, and TGFBR2. Hum. Mutat., 30, 952-959.
    • (2009) Hum. Mutat. , vol.30 , pp. 952-959
    • Frederic, M.Y.1    Lalande, M.2    Boileau, C.3    Hamroun, D.4    Claustres, M.5    Beroud, C.6    Collod-Beroud, G.7
  • 18
    • 0033866487 scopus 로고    scopus 로고
    • The Breast Cancer Information Core: Database design, structure, and scope
    • Szabo,C., Masiello,A., Ryan,J.F. and Brody,L.C. (2000) The breast cancer information core: database design, structure, and scope. Hum. Mutat., 16, 123-131. (Pubitemid 30604901)
    • (2000) Human Mutation , vol.16 , Issue.2 , pp. 123-131
    • Szabo, C.1    Masiello, A.2    Ryan, J.F.3    Brody, L.C.4
  • 19
    • 22844452823 scopus 로고    scopus 로고
    • LOVD: Easy creation of a locus-specific sequence variation database using an "LSDB-in-a-Box" approach
    • DOI 10.1002/humu.20201
    • Fokkema,I.F., den Dunnen,J.T. and Taschner,P.E. (2005) LOVD: easy creation of a locus-specific sequence variation database using an "LSDB-in-a-box" approach. Hum. Mutat., 26, 63-68. (Pubitemid 41040673)
    • (2005) Human Mutation , vol.26 , Issue.2 , pp. 63-68
    • Fokkema, I.F.A.C.1    Den, D.J.T.2    Taschner, P.E.M.3
  • 20
    • 0034192373 scopus 로고    scopus 로고
    • KConFab: A research resource of Australasian breast cancer families. Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer
    • Osborne,R.H., Hopper,J.L., Kirk,J.A., Chenevix-Trench,G., Thorne,H.J. and Sambrook,J.F. (2000) kConFab: a research resource of Australasian breast cancer families. Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer. Med. J. Aust., 172, 463-464.
    • (2000) Med. J. Aust. , vol.172 , pp. 463-464
    • Osborne, R.H.1    Hopper, J.L.2    Kirk, J.A.3    Chenevix-Trench, G.4    Thorne, H.J.5    Sambrook, J.F.6
  • 21
    • 33645237870 scopus 로고    scopus 로고
    • Singapore human mutation/polymorphism database: A country-specific database for mutations and polymorphisms in inherited disorders and candidate gene association studies
    • Tan,E.C., Loh,M., Chuon,D. and Lim,Y.P. (2006) Singapore human mutation/polymorphism database: a country-specific database for mutations and polymorphisms in inherited disorders and candidate gene association studies. Hum. Mutat., 27, 232-235.
    • (2006) Hum. Mutat. , vol.27 , pp. 232-235
    • Tan, E.C.1    Loh, M.2    Chuon, D.3    Lim, Y.P.4
  • 22
    • 43349086908 scopus 로고    scopus 로고
    • The human gene mutation database (HGMD) and its exploitation in the study of mutational mechanisms
    • Chapter 1, Unit 1 13
    • Cooper,D.N., Stenson,P.D. and Chuzhanova,N.A. (2006) The human gene mutation database (HGMD) and its exploitation in the study of mutational mechanisms. Curr. Protoc. Bioinformatics, Chapter 1, Unit 1 13.
    • (2006) Curr. Protoc. Bioinformatics
    • Cooper, D.N.1    Stenson, P.D.2    Chuzhanova, N.A.3
  • 24
    • 0342545408 scopus 로고    scopus 로고
    • UMD (Universal Mutation Database): A generic software to build and analyze locus-specific databases
    • DOI 10.1002/(SICI)1098-1004(200001)15:1<86::AID-HUMU16>3.0.CO;2-4
    • Beroud,C., Collod-Beroud,G., Boileau,C., Soussi,T. and Junien,C. (2000) UMD (Universal mutation database): a generic software to build and analyze locus-specific databases. Hum. Mutat., 15, 86-94. (Pubitemid 30036174)
    • (2000) Human Mutation , vol.15 , Issue.1 , pp. 86-94
    • Beroud, C.1    Collod-Beroud, G.2    Boileau, C.3    Soussi, T.4    Junien, C.5
  • 29
    • 0036024851 scopus 로고    scopus 로고
    • Rapid detection of novel BRCA1 rearrangements in high-risk breast-ovarian cancer families using multiplex PCR of short fluorescent fragments
    • DOI 10.1002/humu.10108
    • Casilli,F., Di Rocco,Z.C., Gad,S., Tournier,I., Stoppa-Lyonnet,D., Frebourg,T. and Tosi,M. (2002) Rapid detection of novel BRCA1 rearrangements in high-risk breast-ovarian cancer families using multiplex PCR of short fluorescent fragments. Hum. Mutat., 20, 218-226. (Pubitemid 34966850)
    • (2002) Human Mutation , vol.20 , Issue.3 , pp. 218-226
    • Casilli, F.1    Di, R.Z.C.2    Gad, S.3    Tournier, I.4    Stoppa-Lyonnet, D.5    Frebourg, T.6    Tosi, M.7
  • 30
    • 1242318567 scopus 로고    scopus 로고
    • Real-time PCR-based gene dosage assay for detecting BRCA1 rearrangements in breast-ovarian cancer families
    • DOI 10.1111/j.0009-9163.2004.00200.x
    • Barrois,M., Bieche,I., Mazoyer,S., Champeme,M.H., Bressac-de Paillerets,B. and Lidereau,R. (2004) Real-time PCR-based gene dosage assay for detecting BRCA1 rearrangements in breast-ovarian cancer families. Clin. Genet., 65, 131-136. (Pubitemid 38220114)
    • (2004) Clinical Genetics , vol.65 , Issue.2 , pp. 131-136
    • Barrois, M.1    Bieche, I.2    Mazoyer, S.3    Champeme, M.-H.4    Bressac-de, P.B.5    Lidereau, R.6
  • 31
    • 66349098335 scopus 로고    scopus 로고
    • Quantitative PCR high-resolution melting (qPCR-HRM) curve analysis, a new approach to simultaneously screen point mutations and large rearrangements: Application to MLH1 germline mutations in Lynch syndrome
    • Rouleau,E., Lefol,C., Bourdon,V., Coulet,F., Noguchi,T., Soubrier,F., Bieche,I., Olschwang,S., Sobol,H. and Lidereau,R. (2009) Quantitative PCR high-resolution melting (qPCR-HRM) curve analysis, a new approach to simultaneously screen point mutations and large rearrangements: application to MLH1 germline mutations in Lynch syndrome. Hum. Mutat., 30, 867-875.
    • (2009) Hum. Mutat. , vol.30 , pp. 867-875
    • Rouleau, E.1    Lefol, C.2    Bourdon, V.3    Coulet, F.4    Noguchi, T.5    Soubrier, F.6    Bieche, I.7    Olschwang, S.8    Sobol, H.9    Lidereau, R.10
  • 32
    • 37149053418 scopus 로고    scopus 로고
    • High-throughput simultaneous detection of point mutations and large-scale rearrangements by CE
    • DOI 10.1002/elps.200700010
    • Weber,J., Miserere,S., Champ,J., Looten,R., Stoppa-Lyonnet,D., Viovy,J.L. and Houdayer,C. (2007) High-throughput simultaneous detection of point mutations and large-scale rearrangements by CE. Electrophoresis, 28, 4282-4288. (Pubitemid 350259029)
    • (2007) Electrophoresis , vol.28 , Issue.23 , pp. 4282-4288
    • Weber, J.1    Miserere, S.2    Champ, J.3    Looten, R.4    Stoppa-Lyonnet, D.5    Viovy, J.-L.6    Houdayer, C.7
  • 34
    • 34548125297 scopus 로고    scopus 로고
    • High-resolution oligonucleotide array-CGH applied to the detection and characterization of large rearrangements in the hereditary breast cancer gene BRCA1
    • DOI 10.1111/j.1399-0004.2007.00849.x
    • Rouleau,E., Lefol,C., Tozlu,S., Andrieu,C., Guy,C., Copigny,F., Nogues,C., Bieche,I. and Lidereau,R. (2007) High-resolution oligonucleotide array-CGH applied to the detection and characterization of large rearrangements in the hereditary breast cancer gene BRCA1. Clin. Genet., 72, 199-207. (Pubitemid 47300022)
    • (2007) Clinical Genetics , vol.72 , Issue.3 , pp. 199-207
    • Rouleau, E.1    Lefol, C.2    Tozlu, S.3    Andrieu, C.4    Guy, C.5    Copigny, F.6    Nogues, C.7    Bieche, I.8    Lidereau, R.9
  • 36
    • 0043122919 scopus 로고    scopus 로고
    • SIFT: Predicting amino acid changes that affect protein function
    • DOI 10.1093/nar/gkg509
    • Ng,P.C. and Henikoff,S. (2003) SIFT: predicting amino acid changes that affect protein function. Nucleic Acids Res., 31, 3812-3814. (Pubitemid 37442253)
    • (2003) Nucleic Acids Research , vol.31 , Issue.13 , pp. 3812-3814
    • Ng, P.C.1    Henikoff, S.2
  • 37
    • 0036713510 scopus 로고    scopus 로고
    • Human non-synonymous SNPs: Server and survey
    • Ramensky,V., Bork,P. and Sunyaev,S. (2002) Human non-synonymous SNPs: server and survey. Nucleic Acids Res., 30, 3894-3900. (Pubitemid 35012462)
    • (2002) Nucleic Acids Research , vol.30 , Issue.17 , pp. 3894-3900
    • Ramensky, V.1    Bork, P.2    Sunyaev, S.3
  • 39
    • 3142662152 scopus 로고    scopus 로고
    • BRCA1 testing in breast and/or ovarian cancer families from northeastern France identifies two common mutations with a founder effect
    • DOI 10.1023/B:FAME.0000026819.44213.df
    • Muller,D., Bonaiti-Pellie,C., Abecassis,J., Stoppa-Lyonnet,D. and Fricker,J.P. (2004) BRCA1 testing in breast and/or ovarian cancer families from northeastern France identifies two common mutations with a founder effect. Fam. Cancer, 3, 15-20. (Pubitemid 40655349)
    • (2004) Familial Cancer , vol.3 , Issue.1 , pp. 15-20
    • Muller, D.1    Bonaiti-Pellie, C.2    Abecassis, J.3    Stoppa-Lyonnet, D.4    Fricker, J.-P.5
  • 41
    • 0030893812 scopus 로고    scopus 로고
    • A de novo recombination in the ABO blood group gene and evidence for the occurrence of recombination products
    • DOI 10.1007/s004390050388
    • Suzuki,K., Iwata,M., Tsuji,H., Takagi,T., Tamura,A., Ishimoto,G., Ito,S., Matsui,K. and Miyazaki,T. (1997) A de novo recombination in the ABO blood group gene and evidence for the occurence of recombination products. Hum. Genet., 99, 454-461. (Pubitemid 27152092)
    • (1997) Human Genetics , vol.99 , Issue.4 , pp. 454-461
    • Suzuki, K.1    Iwata, M.2    Tsuji, H.3    Takagi, T.4    Tamura, A.5    Ishimoto, G.6    Ito, S.7    Matsui, K.8    Miyazaki, T.9
  • 43
    • 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
    • Machado,P.M., Brandao,R.D., Cavaco,B.M., Eugenio,J., Bento,S., Nave,M., Rodrigues,P., Fernandes,A. and Vaz,F. (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. (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
  • 45
    • 24644474046 scopus 로고    scopus 로고
    • Spectrum and prevalence of BRCA1 and BRCA2 germline mutations in Sardinian patients with breast carcinoma through hospital-based screening
    • DOI 10.1002/cncr.21298
    • Palomba,G., Pisano,M., Cossu,A., Budroni,M., Dedola,M.F., Farris,A., Contu,A., Baldinu,P., Tanda,F. and Palmieri,G. (2005) Spectrum and prevalence of BRCA1 and BRCA2 germline mutations in Sardinian patients with breast carcinoma through hospital-based screening. Cancer, 104, 1172-1179. (Pubitemid 41278951)
    • (2005) Cancer , vol.104 , Issue.6 , pp. 1172-1179
    • Palomba, G.1    Pisano, M.2    Cossu, A.3    Budroni, M.4    Dedola, M.F.5    Farris, A.6    Contu, A.7    Baldinu, P.8    Tanda, F.9    Palmieri, G.10
  • 46
    • 0035799597 scopus 로고    scopus 로고
    • A targeted mouse Brca1 mutation removing the last BRCT repeat results in apoptosis and embryonic lethality at the headfold stage
    • DOI 10.1038/sj.onc.1204363
    • Hohenstein,P., Kielman,M.F., Breukel,C., Bennett,L.M., Wiseman,R., Krimpenfort,P., Cornelisse,C., van Ommen,G.J., Devilee,P. and Fodde,R. (2001) A targeted mouse Brca1 mutation removing the last BRCT repeat results in apoptosis and embryonic lethality at the headfold stage. Oncogene, 20, 2544-2550. (Pubitemid 32531351)
    • (2001) Oncogene , vol.20 , Issue.20 , pp. 2544-2550
    • Hohenstein, P.1    Kielman, M.F.2    Breukel, C.3    Bennett, L.M.4    Wiseman, R.5    Krimpenfort, P.6    Cornelisse, C.7    Van Ommen, G.-J.8    Devilee, P.9    Fodde, R.10
  • 47
    • 0030051903 scopus 로고    scopus 로고
    • Brca1 deficiency results in early embryonic lethality characterized by neuroepithelial abnormalities
    • DOI 10.1038/ng0296-191
    • Gowen,L.C., Johnson,B.L., Latour,A.M., Sulik,K.K. and Koller,B.H. (1996) Brca1 deficiency results in early embryonic lethality characterized by neuroepithelial abnormalities. Nat. Genet., 12, 191-194. (Pubitemid 26051301)
    • (1996) Nature Genetics , vol.12 , Issue.2 , pp. 191-194
    • Gowen, L.C.1    Johnson, B.L.2    Latour, A.M.3    Sulik, K.K.4    Koller, B.H.5
  • 48
    • 33749007676 scopus 로고    scopus 로고
    • Mouse models of BRCA1 and BRCA2 deficiency: Past lessons, current understanding and future prospects
    • DOI 10.1038/sj.onc.1209871, PII 1209871
    • Evers,B. and Jonkers,J. (2006) Mouse models of BRCA1 and BRCA2 deficiency: past lessons, current understanding and future prospects. Oncogene, 25, 5885-5897. (Pubitemid 44453444)
    • (2006) Oncogene , vol.25 , Issue.43 , pp. 5885-5897
    • Evers, B.1    Jonkers, J.2
  • 50
    • 33846415079 scopus 로고    scopus 로고
    • Clinical and molecular features associated with biallelic mutations in FANCD1/BRCA2
    • DOI 10.1136/jmg.2006.043257
    • Alter,B.P., Rosenberg,P.S. and Brody,L.C. (2007) Clinical and molecular features associated with biallelic mutations in FANCD1/BRCA2. J. Med. Genet., 44, 1-9. (Pubitemid 46142832)
    • (2007) Journal of Medical Genetics , vol.44 , Issue.1 , pp. 1-9
    • Alter, B.P.1    Rosenberg, P.S.2    Brody, L.C.3
  • 51
    • 0030924656 scopus 로고    scopus 로고
    • Targeted mutations of breast cancer susceptibility gene homologs in mice: Lethal phenotypes of Brca1, Brca2, Brca1/Brca2, Brca1/p53, and Brca2/p53 nullizygous embryos
    • Ludwig,T., Chapman,D.L., Papaioannou,V.E. and Efstratiadis,A. (1997) Targeted mutations of breast cancer susceptibility gene homologs in mice: lethal phenotypes of Brca1, Brca2, Brca1/ Brca2, Brca1/p53, and Brca2/p53 nullizygous embryos. Genes Dev., 11, 1226-1241. (Pubitemid 27235356)
    • (1997) Genes and Development , vol.11 , Issue.10 , pp. 1226-1241
    • Ludwig, T.1    Chapman, D.L.2    Papaioannou, V.E.3    Efstratiadis, A.4
  • 53
    • 33847259648 scopus 로고    scopus 로고
    • Evaluation of BRCA1 and BRCA2 mutation prevalence, risk prediction models and a multistep testing approach in French-Canadian families with high risk of breast and ovarian cancer
    • Simard,J., Dumont,M., Moisan,A.M., Gaborieau,V., Malouin,H., Durocher,F., Chiquette,J., Plante,M., Avard,D., Bessette,P. et al. (2007) Evaluation of BRCA1 and BRCA2 mutation prevalence, risk prediction models and a multistep testing approach in French-Canadian families with high risk of breast and ovarian cancer. J. Med. Genet., 44, 107-121.
    • (2007) J. Med. Genet. , vol.44 , pp. 107-121
    • Simard, J.1    Dumont, M.2    Moisan, A.M.3    Gaborieau, V.4    Malouin, H.5    Durocher, F.6    Chiquette, J.7    Plante, M.8    Avard, D.9    Bessette, P.10
  • 54
    • 0034809456 scopus 로고    scopus 로고
    • Crystal structure of the BRCT repeat region from the breast cancer-associated protein BRCA1
    • DOI 10.1038/nsb1001-838
    • Williams,R.S., Green,R. and Glover,J.N. (2001) Crystal structure of the BRCT repeat region from the breast cancer-associated protein BRCA1. Nat. Struct. Biol., 8, 838-842. (Pubitemid 32923600)
    • (2001) Nature Structural Biology , vol.8 , Issue.10 , pp. 838-842
    • Williams, R.S.1    Green, R.2    Glover, J.N.M.3
  • 55
    • 2342484423 scopus 로고    scopus 로고
    • Structure of the BRCT repeats of BRCA1 bound to a BACH1 phosphopeptide: Implications for signaling
    • DOI 10.1016/S1097-2765(04)00238-2, PII S1097276504002382
    • Shiozaki,E.N., Gu,L., Yan,N. and Shi,Y. (2004) Structure of the BRCT repeats of BRCA1 bound to a BACH1 phosphopeptide: implications for signaling. Mol. Cell, 14, 405-412. (Pubitemid 38591411)
    • (2004) Molecular Cell , vol.14 , Issue.3 , pp. 405-412
    • Shiozaki, E.N.1    Gu, L.2    Yan, N.3    Shi, Y.4
  • 59
    • 0346101739 scopus 로고    scopus 로고
    • Detection of Protein Folding Defects Caused by BRCA1-BRCT Truncation and Missense Mutations
    • DOI 10.1074/jbc.M310182200
    • Williams,R.S., Chasman,D.I., Hau,D.D., Hui,B., Lau,A.Y. and Glover,J.N. (2003) Detection of protein folding defects caused by BRCA1-BRCT truncation and missense mutations. J. Biol. Chem., 278, 53007-53016. (Pubitemid 38035903)
    • (2003) Journal of Biological Chemistry , vol.278 , Issue.52 , pp. 53007-53016
    • Williams, R.S.1    Chasman, D.I.2    Hau, D.D.3    Hui, B.4    Lau, A.Y.5    Glover, J.N.M.6
  • 61
    • 49649087897 scopus 로고    scopus 로고
    • Classifying variants of undetermined significance in BRCA2 with protein likelihood ratios
    • Karchin,R., Agarwal,M., Sali,A., Couch,F. and Beattie,M.S. (2008) Classifying variants of undetermined significance in BRCA2 with protein likelihood ratios. Cancer Inform., 6, 203-216.
    • (2008) Cancer Inform. , vol.6 , pp. 203-216
    • Karchin, R.1    Agarwal, M.2    Sali, A.3    Couch, F.4    Beattie, M.S.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.