메뉴 건너뛰기




Volumn 403, Issue 1-2, 2009, Pages 249-253

A novel deletion of BRCA1 gene that eliminates the ATG initiation codon without affecting the promoter region

Author keywords

BRCA1; MLPA; Novel deletion; Rearrangement

Indexed keywords

ALANINE; BRCA1 PROTEIN; BRCA2 PROTEIN; GLYCINE; THREONINE;

EID: 64849089821     PISSN: 00098981     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.cca.2009.02.020     Document Type: Article
Times cited : (9)

References (23)
  • 2
    • 34347223992 scopus 로고    scopus 로고
    • High occurrence of BRCA1 intragenic rearrangements in hereditary breast and ovarian cancer syndrome in the Czech Republic
    • Vasickova P., Machackova E., Lukesova M., et al. High occurrence of BRCA1 intragenic rearrangements in hereditary breast and ovarian cancer syndrome in the Czech Republic. BMC Med Genet 8 (2007) 32
    • (2007) BMC Med Genet , vol.8 , pp. 32
    • Vasickova, P.1    Machackova, E.2    Lukesova, M.3
  • 3
    • 17344365851 scopus 로고    scopus 로고
    • Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium
    • Ford D., Easton D.F., Stratton M., et al. Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium. Am J Hum Genet 62 (1998) 676-689
    • (1998) Am J Hum Genet , vol.62 , pp. 676-689
    • Ford, D.1    Easton, D.F.2    Stratton, M.3
  • 4
    • 0030902227 scopus 로고    scopus 로고
    • Population genetics of BRCA1 and BRCA2
    • Szabo C.I., and King M.C. Population genetics of BRCA1 and BRCA2. Am J Hum Genet 60 (1997) 1013-1020
    • (1997) Am J Hum Genet , vol.60 , pp. 1013-1020
    • Szabo, C.I.1    King, M.C.2
  • 5
    • 52949126985 scopus 로고    scopus 로고
    • Identification of a novel BRCA1 large genomic rearrangement in a Spanish breast/ovarian cancer family
    • Palanca Suela S., Esteban Cardeñosa E., Barragán González E., et al. Identification of a novel BRCA1 large genomic rearrangement in a Spanish breast/ovarian cancer family. Breast Cancer Res Treat 112 (2008) 63-67
    • (2008) Breast Cancer Res Treat , vol.112 , pp. 63-67
    • Palanca Suela, S.1    Esteban Cardeñosa, E.2    Barragán González, E.3
  • 6
    • 33645106126 scopus 로고    scopus 로고
    • Large genomic rearrangements of both BRCA2 and BRCA1 are a feature of the inherited breast/ovarian cancer phenotype in selected families
    • Woodward A.M., Davis T.A., Silva A.G., et al. Large genomic rearrangements of both BRCA2 and BRCA1 are a feature of the inherited breast/ovarian cancer phenotype in selected families. J Med Genet 42 (2005) e31
    • (2005) J Med Genet , vol.42
    • Woodward, A.M.1    Davis, T.A.2    Silva, A.G.3
  • 8
    • 33748639939 scopus 로고    scopus 로고
    • Breast cancer screening in women at increased risk according to different family histories: an update of the Modena Study Group experience
    • Cortesi L., Turchetti D., Marchi I., et al. Breast cancer screening in women at increased risk according to different family histories: an update of the Modena Study Group experience. BMC Cancer 6 (2006) 210
    • (2006) BMC Cancer , vol.6 , pp. 210
    • Cortesi, L.1    Turchetti, D.2    Marchi, I.3
  • 9
    • 23844551930 scopus 로고    scopus 로고
    • Histopathological features of breast tumours in BRCA1, BRCA2 and mutation-negative breast cancer families
    • Eerola H., Heikkilä P., Tamminen A., et al. Histopathological features of breast tumours in BRCA1, BRCA2 and mutation-negative breast cancer families. Breast Cancer Res 7 (2005) R93-R100
    • (2005) Breast Cancer Res , vol.7
    • Eerola, H.1    Heikkilä, P.2    Tamminen, A.3
  • 10
    • 33644801945 scopus 로고    scopus 로고
    • Relationship of patients' age to histopathological features of breast tumours in BRCA1 and BRCA2 and mutation-negative breast cancer families
    • Eerola H., Heikkilä P., Tamminen A., et al. Relationship of patients' age to histopathological features of breast tumours in BRCA1 and BRCA2 and mutation-negative breast cancer families. Breast Cancer Res 7 (2005) R465-R469
    • (2005) Breast Cancer Res , vol.7
    • Eerola, H.1    Heikkilä, P.2    Tamminen, A.3
  • 11
    • 64849085676 scopus 로고    scopus 로고
    • the Netherlands
    • MRC-Holland, Amsterdam, the Netherlands [http://www.mlpa.com/pages/order_italypag.html].
    • Amsterdam
    • MRC-Holland1
  • 12
    • 3543023204 scopus 로고    scopus 로고
    • Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification
    • Schouten J.P., McElgunn C.J., Waaijer R., et al. Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucleic Acids Res 30 (2002) e57
    • (2002) Nucleic Acids Res , vol.30
    • Schouten, J.P.1    McElgunn, C.J.2    Waaijer, R.3
  • 13
    • 64849113545 scopus 로고    scopus 로고
    • Excel sheets [http://www.ngrl.org.uk/Manchester/mlpapubs.html].
    • Excel sheets
  • 14
    • 64849114445 scopus 로고    scopus 로고
    • FastPCR software [http://www.biocenter.helsinki.fi/bi/Programs/fastpcr.htm].
    • FastPCR software
  • 15
    • 64849105337 scopus 로고    scopus 로고
    • Repeat Masker [http://www.repeatmasker.org/].
  • 17
    • 18744401644 scopus 로고    scopus 로고
    • Genomic rearrangements in the BRCA1 and BRCA2 genes
    • Mazoyer S. Genomic rearrangements in the BRCA1 and BRCA2 genes. Hum Mutat 25 (2005) 415-422
    • (2005) Hum Mutat , vol.25 , pp. 415-422
    • Mazoyer, S.1
  • 18
    • 0037053410 scopus 로고    scopus 로고
    • Structural determinants of BRCA1 translational regulation
    • Sobczak K., and Krzyzosiak W.J. Structural determinants of BRCA1 translational regulation. J Biol Chem 277 (2002) 17349-17358
    • (2002) J Biol Chem , vol.277 , pp. 17349-17358
    • Sobczak, K.1    Krzyzosiak, W.J.2
  • 19
    • 0033061571 scopus 로고    scopus 로고
    • Initiation of translation in prokaryotes and eukaryotes
    • Marilyn K. Initiation of translation in prokaryotes and eukaryotes. Gene 234 (1999) 187-208
    • (1999) Gene , vol.234 , pp. 187-208
    • Marilyn, K.1
  • 20
    • 34547885781 scopus 로고    scopus 로고
    • A mutation in the 5′ untranslated region of the BRCA1 gene in sporadic breast cancer causes downregulation of translation efficiency
    • Wang J., Lu C., Min D., et al. A mutation in the 5′ untranslated region of the BRCA1 gene in sporadic breast cancer causes downregulation of translation efficiency. J Int Med Res 35 (2007) 564-573
    • (2007) J Int Med Res , vol.35 , pp. 564-573
    • Wang, J.1    Lu, C.2    Min, D.3
  • 21
    • 64849096904 scopus 로고    scopus 로고
    • InterPro [http://www.ebi.ac.uk/interpro/].
    • InterPro
  • 22
    • 2942523321 scopus 로고    scopus 로고
    • BRCA1 Zinc RING finger domain disruption alters caspase response in ovarian surface epithelial cells
    • Johnson N.C., and Kruk P.A. BRCA1 Zinc RING finger domain disruption alters caspase response in ovarian surface epithelial cells. Cancer Cell Int 2 (2002) 7
    • (2002) Cancer Cell Int , vol.2 , pp. 7
    • Johnson, N.C.1    Kruk, P.A.2
  • 23
    • 0037684805 scopus 로고    scopus 로고
    • The multiple nuclear functions of BRCA1: transcription, ubiquitination and DNA repair
    • Starita L.M., and Parvin J.D. The multiple nuclear functions of BRCA1: transcription, ubiquitination and DNA repair. Cyrr Opin Cell Biol 15 (2003) 345-350
    • (2003) Cyrr Opin Cell Biol , vol.15 , pp. 345-350
    • Starita, L.M.1    Parvin, J.D.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.