메뉴 건너뛰기




Volumn 10, Issue 3, 2006, Pages 200-207

The P1812A and P25T BRCA1 and the 5164del4 BRCA2 mutations: Occurrence in high-risk non-Ashkenazi Jews

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; PROLINE; THREONINE;

EID: 33845192319     PISSN: 10906576     EISSN: None     Source Type: Journal    
DOI: 10.1089/gte.2006.10.200     Document Type: Article
Times cited : (7)

References (30)
  • 1
    • 0031035359 scopus 로고    scopus 로고
    • The founder mutations 185delAG and 5382insC in BRCA1 and 6174delT in BRCA2 appear in 60% of ovarian cancer and 30% of early onset breast cancer patients among Ashkenazi women
    • Abeliovich D, Kaduri L, Lerer I, Weinberg N, Gail A, Sagi M, Zlotogora J, Heching N, Peretz T (1997) The founder mutations 185delAG and 5382insC in BRCA1 and 6174delT in BRCA2 appear in 60% of ovarian cancer and 30% of early onset breast cancer patients among Ashkenazi women. Am J Hum Genet 60:505-514.
    • (1997) Am J Hum Genet , vol.60 , pp. 505-514
    • Abeliovich, D.1    Kaduri, L.2    Lerer, I.3    Weinberg, N.4    Gail, A.5    Sagi, M.6    Zlotogora, J.7    Heching, N.8    Peretz, T.9
  • 2
    • 0029949217 scopus 로고    scopus 로고
    • Two distinct origins of a common mutation in breast-Ovarian cancer families: A genetic study of 15 185delAG-mutation kindreds
    • Berman DB, Wagner-Costalas J, Schultz DC, Lynch DC, Daly M, Godwin AK (1996) Two distinct origins of a common mutation in breast-Ovarian cancer families: A genetic study of 15 185delAG-mutation kindreds. Am J Hum Genet 58:1166-1176.
    • (1996) Am J Hum Genet , vol.58 , pp. 1166-1176
    • Berman, D.B.1    Wagner-Costalas, J.2    Schultz, D.C.3    Lynch, D.C.4    Daly, M.5    Godwin, A.K.6
  • 3
    • 84905280980 scopus 로고    scopus 로고
    • BIC database: http://www.nhgn.nih.gov/Intramural_research/Lab_transfer/ Bic/Member/index.html
    • BIC Database
  • 4
    • 0018414990 scopus 로고
    • Analysis of genetic data on Jewish populations. I. Historical background, demographic features, and genetic markers
    • Bonne-Tamir B, Karlin S, Kenett R (1979) Analysis of genetic data on Jewish populations. I. Historical background, demographic features, and genetic markers. Am J Hum Genet 31:324-340.
    • (1979) Am J Hum Genet , vol.31 , pp. 324-340
    • Bonne-Tamir, B.1    Karlin, S.2    Kenett, R.3
  • 5
    • 0022328481 scopus 로고
    • A eukaryotic transcriptional activator bearing the DNA specificity of a prokaryotic repressor
    • Brent R, Ptashne M (1985) A eukaryotic transcriptional activator bearing the DNA specificity of a prokaryotic repressor. Cell 43(3 Pt 2):729-736.
    • (1985) Cell , vol.43 , Issue.3 PART 2 , pp. 729-736
    • Brent, R.1    Ptashne, M.2
  • 10
    • 0000006402 scopus 로고
    • Genetic linkage analysis in familial breast and ovarian cancer
    • and the Breast Cancer Linkage Consortium
    • Easton DF, Bishop DT, Ford D, Cockford GP, and the Breast Cancer Linkage Consortium (1993) Genetic linkage analysis in familial breast and ovarian cancer. Am J Hum Genet 52:718-722.
    • (1993) Am J Hum Genet , vol.52 , pp. 718-722
    • Easton, D.F.1    Bishop, D.T.2    Ford, D.3    Cockford, G.P.4
  • 12
    • 3142682640 scopus 로고    scopus 로고
    • The 100delAT BRCA1 and the 8765delAG BRCA2 mutations: Occurrence in high-risk non-Ashkenazi Jews and haplotype comparison of Jewish and non-Jewish carriers
    • Gal I, Gershoni Baruch R, Haber D, Dagan E, Eisenberg-Barzilai S, Zidan J, Friedman E (2004) The 100delAT BRCA1 and the 8765delAG BRCA2 mutations: occurrence in high-risk non-Ashkenazi Jews and haplotype comparison of Jewish and non-Jewish carriers. Fam Cancer 3:11-14.
    • (2004) Fam Cancer , vol.3 , pp. 11-14
    • Gal, I.1    Gershoni Baruch, R.2    Haber, D.3    Dagan, E.4    Eisenberg-Barzilai, S.5    Zidan, J.6    Friedman, E.7
  • 15
    • 0034194328 scopus 로고    scopus 로고
    • Functional assay for BRCA1: Mutagenesis of the COOH-terminal region reveals critical residues for transcription activation
    • Hayes F, Cayanan C, Barilla D, Monteiro AN (2000) Functional assay for BRCA1: mutagenesis of the COOH-terminal region reveals critical residues for transcription activation. Cancer Res 60:2411-2418.
    • (2000) Cancer Res , vol.60 , pp. 2411-2418
    • Hayes, F.1    Cayanan, C.2    Barilla, D.3    Monteiro, A.N.4
  • 23
    • 0035514049 scopus 로고    scopus 로고
    • A genetic profile of contemporary Jewish populations
    • Ostrer H (2001) A genetic profile of contemporary Jewish populations. Nat Rev Genet 2:891-898.
    • (2001) Nat Rev Genet , vol.2 , pp. 891-898
    • Ostrer, H.1
  • 25
    • 0031012211 scopus 로고    scopus 로고
    • Direct detection of mutations in the breast and ovarian cancer susceptibility gene BRCA1 by PCR-mediated site-directed mutagenesis
    • Rohlfs EM, Learning WG, Friedman KJ, Couch FJ, Weber BL, Silverman LM. (1997) Direct detection of mutations in the breast and ovarian cancer susceptibility gene BRCA1 by PCR-mediated site-directed mutagenesis. Clin Chem 43:24-29.
    • (1997) Clin Chem , vol.43 , pp. 24-29
    • Rohlfs, E.M.1    Learning, W.G.2    Friedman, K.J.3    Couch, F.J.4    Weber, B.L.5    Silverman, L.M.6
  • 26
    • 2342444739 scopus 로고    scopus 로고
    • Common mutations in the familial Mediterranean fever gene associate with rapid progression to disability in non-Ashkenazi Jewish multiple sclerosis patients
    • Shinar Y, Livneh A, Villa Y, Pinhasov A, Zeitoun I, Kogan A, Achiron A (2003) Common mutations in the familial Mediterranean fever gene associate with rapid progression to disability in non-Ashkenazi Jewish multiple sclerosis patients. Genes Immun 4:197-203.
    • (2003) Genes Immun , vol.4 , pp. 197-203
    • Shinar, Y.1    Livneh, A.2    Villa, Y.3    Pinhasov, A.4    Zeitoun, I.5    Kogan, A.6    Achiron, A.7
  • 29
    • 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


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.