메뉴 건너뛰기




Volumn 107, Issue 3, 2008, Pages 431-441

Greek BRCA1 and BRCA2 mutation spectrum: Two BRCA1 mutations account for half the carriers found among high-risk breast/ovarian cancer patients

(22)  Konstantopoulou, Irene a,b   Rampias, Theodore b   Ladopoulou, Angela a,b   Koutsodontis, George b   Armaou, Sophia a   Anagnostopoulos, Theodore a   Nikolopoulos, George a   Kamakari, Smaragda b   Nounesis, George a   Stylianakis, Antonis c   Karanikiotis, Charisios d   Razis, Evangelia e   Gogas, Helen f   Keramopoulos, Antonios g   Gaki, Vassiliki g   Markopoulos, Christos h   Skarlos, Dimosthenis i   Pandis, Nikos a,j   Bei, Thalia b   Arzimanoglou, Iordanis a,k   more..

g IASO   (Greece)

Author keywords

BRCA1; BRCA2; Breast cancer; dHPLC; Genetic testing; Germline mutation; Greece; Ovarian cancer

Indexed keywords

BRCA1 PROTEIN; BRCA2 PROTEIN;

EID: 38649139360     PISSN: 01676806     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10549-007-9571-2     Document Type: Article
Times cited : (36)

References (35)
  • 1
    • 33846850422 scopus 로고    scopus 로고
    • Ten genes for inherited breast cancer
    • Walsh T, King MC (2007) Ten genes for inherited breast cancer. Cancer Cell 11:103-105
    • (2007) Cancer Cell , vol.11 , pp. 103-105
    • Walsh, T.1    King, M.C.2
  • 2
    • 9644261787 scopus 로고    scopus 로고
    • Genetic epidemiology of BRCA1
    • Couch FJ (2004) Genetic epidemiology of BRCA1. Cancer Biol Ther 3:509-514
    • (2004) Cancer Biol Ther , vol.3 , pp. 509-514
    • Couch, F.J.1
  • 4
    • 0037169354 scopus 로고    scopus 로고
    • Cancer susceptibility and the functions of BRCA1 and BRCA2
    • Venkitaraman AR (2002) Cancer susceptibility and the functions of BRCA1 and BRCA2. Cell 108:171-182
    • (2002) Cell , vol.108 , pp. 171-182
    • Venkitaraman, A.R.1
  • 5
    • 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
  • 6
    • 0033462148 scopus 로고    scopus 로고
    • Ethnic differences in cancer risk resulting from genetic variation
    • Neuhausen SL (1999) Ethnic differences in cancer risk resulting from genetic variation. Cancer 86:2575-2582
    • (1999) Cancer , vol.86 , pp. 2575-2582
    • Neuhausen, S.L.1
  • 15
    • 1942501693 scopus 로고    scopus 로고
    • BRCA1 and BRCA2 germline mutation spectrum and frequencies in Belgian breast/ovarian cancer families
    • Claes K, Poppe B, Coene I, Paepe AD, Messiaen L (2004) BRCA1 and BRCA2 germline mutation spectrum and frequencies in Belgian breast/ovarian cancer families. Br J Cancer 90:1244-1251
    • (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
  • 17
    • 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
    • Judkins T, Hendrickson BC, Deffenbaugh AM, Eliason K, Leclair B, Norton MJ, Ward BE, Pruss D, 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
    • (2005) Cancer Res , vol.65 , 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
  • 22
    • 0032736585 scopus 로고    scopus 로고
    • BRCA1 1675delA and 1135insA account for one third of Norwegian familial breast-ovarian cancer and are associated with later disease onset than less frequent mutations
    • Borg A, Dorum A, Heimdal K, Maehle L, Hovig E, Moller P (1999) BRCA1 1675delA and 1135insA account for one third of Norwegian familial breast-ovarian cancer and are associated with later disease onset than less frequent mutations. Dis Markers 15:79-84
    • (1999) Dis Markers , vol.15 , pp. 79-84
    • Borg, A.1    Dorum, A.2    Heimdal, K.3    Maehle, L.4    Hovig, E.5    Moller, P.6
  • 24
    • 0042766533 scopus 로고    scopus 로고
    • The human Y chromosome: An evolutionary marker comes of age
    • Jobling MA, Tyler-Smith C (2003) The human Y chromosome: an evolutionary marker comes of age. Nat Rev Genet 4:598-612
    • (2003) Nat Rev Genet , vol.4 , pp. 598-612
    • Jobling, M.A.1    Tyler-Smith, C.2
  • 28
    • 33644879468 scopus 로고    scopus 로고
    • Insights into the molecular basis of human hereditary breast cancer from studies of the BRCA1 BRCT domain
    • Glover JN (2006) Insights into the molecular basis of human hereditary breast cancer from studies of the BRCA1 BRCT domain. Fam Cancer 5:89-93
    • (2006) Fam Cancer , vol.5 , pp. 89-93
    • Glover, J.N.1
  • 29
    • 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, Sali A, Monteiro AN (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    Sali, A.4    Monteiro, A.N.5
  • 30
    • 0346101739 scopus 로고    scopus 로고
    • Detection of protein folding defects caused by BRCA1-BRCT truncation and missense mutations
    • Williams RS, Chasman DI, Hau DD, Hui B, Lau AY, Glover JN (2003) Detection of protein folding defects caused by BRCA1-BRCT truncation and missense mutations. J Biol Chem 278:53007-53016
    • (2003) J Biol Chem , vol.278 , 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.6
  • 32
    • 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
  • 35
    • 33845654907 scopus 로고    scopus 로고
    • Population BRCA1 and BRCA2 mutation frequencies and cancer penetrances: A kin-cohort study in Ontario, Canada
    • Risch HA, McLaughlin JR, Cole DE, Rosen B, Bradley L, Fan I, Tang J, Li S, Zhang S, Shaw PA, Narod SA (2006) Population BRCA1 and BRCA2 mutation frequencies and cancer penetrances: a kin-cohort study in Ontario, Canada. J Natl Cancer Inst 98:1694-1706
    • (2006) J Natl Cancer Inst , vol.98 , pp. 1694-1706
    • Risch1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.