메뉴 건너뛰기




Volumn 35, Issue 4, 2015, Pages 950-956

Characterization of three alternative transcripts of the BRCA1 gene in patients with breast cancer and a family history of breast and/or ovarian cancer who tested negative for pathogenic mutations

Author keywords

Aberrant splicing; Alternative transcript; BRCA1; BRCA2; Naturally occurring

Indexed keywords

COMPLEMENTARY DNA; MESSENGER RNA; RNA ISOFORM;

EID: 84923668288     PISSN: 11073756     EISSN: 1791244X     Source Type: Journal    
DOI: 10.3892/ijmm.2015.2103     Document Type: Article
Times cited : (16)

References (29)
  • 3
    • 37549056200 scopus 로고    scopus 로고
    • The emerging landscape of breast cancer susceptibility
    • Stratton MR and Rahman N: The emerging landscape of breast cancer susceptibility. Nat Genet 40: 17-22, 2008.
    • (2008) Nat Genet , vol.40 , pp. 17-22
    • Stratton, M.R.1    Rahman, N.2
  • 5
    • 64749099749 scopus 로고    scopus 로고
    • Role of 5'- and 3'-untranslated regions of mRNAs in human diseases
    • Chatterjee S and Pal JK: Role of 5'- and 3'-untranslated regions of mRNAs in human diseases. Biol Cell 101: 251-262, 2009.
    • (2009) Biol Cell , vol.101 , pp. 251-262
    • Chatterjee, S.1    Pal, J.K.2
  • 6
    • 44849102450 scopus 로고    scopus 로고
    • Functional assays for classification of BRCA2 variants of uncertain significance
    • Farrugia DJ, Agarwal MK, Pankratz VS, et al: Functional assays for classification of BRCA2 variants of uncertain significance. Cancer Res 68: 3523-3531, 2008.
    • (2008) Cancer Res , vol.68 , pp. 3523-3531
    • Farrugia, D.J.1    Agarwal, M.K.2    Pankratz, V.S.3
  • 7
    • 77952678915 scopus 로고    scopus 로고
    • Detection of splicing aberrations caused by BRCA1 and BRCA2 sequence variants encoding missense substitutions: Implications for prediction of pathogenicity
    • Walker LC, Whiley PJ, Couch FJ, et al: Detection of splicing aberrations caused by BRCA1 and BRCA2 sequence variants encoding missense substitutions: implications for prediction of pathogenicity. Hum Mutat 31: E1484-E1505, 2010.
    • (2010) Hum Mutat , vol.31 , pp. E1484-E1505
    • Walker, L.C.1    Whiley, P.J.2    Couch, F.J.3
  • 8
    • 0036207384 scopus 로고    scopus 로고
    • Listening to silence and understanding non-sense: Exonic mutations that affect splicing
    • Cartegni L, Chew SL and Krainer AR: Listening to silence and understanding non-sense: exonic mutations that affect splicing. Nat Rev Genet 3: 285-298, 2002.
    • (2002) Nat Rev Genet , vol.3 , pp. 285-298
    • Cartegni, L.1    Chew, S.L.2    Krainer, A.R.3
  • 9
    • 55549124905 scopus 로고    scopus 로고
    • Prediction and assessment of splicing alterations: Implications for clinical testing
    • Spurdle AB, Couch FJ, Hogervorst FB, Radice P and Sinilnikova OM: Prediction and assessment of splicing alterations: implications for clinical testing. Hum Mutat 29: 1304-1313, 2008.
    • (2008) Hum Mutat , vol.29 , pp. 1304-1313
    • Spurdle, A.B.1    Couch, F.J.2    Hogervorst, F.B.3    Radice, P.4    Sinilnikova, O.M.5
  • 10
    • 0029795422 scopus 로고    scopus 로고
    • Characterization of functional messenger RNA splice variants of BRCA1 expressed in nonmalignant and tumor-derived breast cells
    • Lu M, Conzen SD, Cole CN and Arrick BA: Characterization of functional messenger RNA splice variants of BRCA1 expressed in nonmalignant and tumor-derived breast cells. Cancer Res 56: 4578-4581, 1996.
    • (1996) Cancer Res , vol.56 , pp. 4578-4581
    • Lu, M.1    Conzen, S.D.2    Cole, C.N.3    Arrick, B.A.4
  • 11
    • 0030838793 scopus 로고    scopus 로고
    • BRCA1 proteins are transported to the nucleus in the absence of serum and splice variants BRCA1a, BRCA1b are tyrosine phosphoproteins that associate with E2F, cyclins and cyclin dependent kinases
    • Wang H, Shao N, Ding QM, Cui J, Reddy ES and Rao VN: BRCA1 proteins are transported to the nucleus in the absence of serum and splice variants BRCA1a, BRCA1b are tyrosine phosphoproteins that associate with E2F, cyclins and cyclin dependent kinases. Oncogene 15: 143-157, 1997.
    • (1997) Oncogene , vol.15 , pp. 143-157
    • Wang, H.1    Shao, N.2    Ding, Q.M.3    Cui, J.4    Reddy, E.S.5    Rao, V.N.6
  • 13
    • 0034816781 scopus 로고    scopus 로고
    • Expression profiles of BRCA1 splice variants in asynchronous and in G1/S synchronized tumor cell lines
    • Orban TI and Olah E: Expression profiles of BRCA1 splice variants in asynchronous and in G1/S synchronized tumor cell lines. Biochem Biophys Res Commun 280: 32-38, 2001.
    • (2001) Biochem Biophys Res Commun , vol.280 , pp. 32-38
    • Orban, T.I.1    Olah, E.2
  • 14
    • 0042067879 scopus 로고    scopus 로고
    • Emerging roles of BRCA1 alternative splicing
    • Orban TI and Olah E: Emerging roles of BRCA1 alternative splicing. Mol Pathol 56: 191-197, 2003.
    • (2003) Mol Pathol , vol.56 , pp. 191-197
    • Orban, T.I.1    Olah, E.2
  • 15
    • 64549153643 scopus 로고    scopus 로고
    • Mitochondrial localization, ELK-1 transcriptional regulation and growth inhibitory functions of BRCA1, BRCA1a, and BRCA1b proteins
    • Maniccia AW, Lewis C, Begum N, et al: Mitochondrial localization, ELK-1 transcriptional regulation and growth inhibitory functions of BRCA1, BRCA1a, and BRCA1b proteins. J Cell Physiol 219: 634-641, 2009.
    • (2009) J Cell Physiol , vol.219 , pp. 634-641
    • Maniccia, A.W.1    Lewis, C.2    Begum, N.3
  • 16
    • 84902961280 scopus 로고    scopus 로고
    • Comprehensive annotation of splice junctions supports pervasive alternative splicing at the BRCA1 locus: A report from the ENIGMA consortium
    • Colombo M, Blok MJ, Whiley P, et al: Comprehensive annotation of splice junctions supports pervasive alternative splicing at the BRCA1 locus: a report from the ENIGMA consortium. Hum Mol Genet 23: 3666-3680, 2014.
    • (2014) Hum Mol Genet , vol.23 , pp. 3666-3680
    • Colombo, M.1    Blok, M.J.2    Whiley, P.3
  • 17
    • 70350569286 scopus 로고    scopus 로고
    • Mechanisms of alternative splicing regulation: Insights from molecular and genomics approaches
    • Chen M and Manley JL: Mechanisms of alternative splicing regulation: insights from molecular and genomics approaches. Nat Rev Mol Cell Biol 10: 741-754, 2009.
    • (2009) Nat Rev Mol Cell Biol , vol.10 , pp. 741-754
    • Chen, M.1    Manley, J.L.2
  • 18
    • 33644529562 scopus 로고    scopus 로고
    • Molecular characterization and cancer risk associated with BRCA1 and BRCA2 splice site variants identified in multiple-case breast cancer families
    • kConFab
    • Tesoriero AA, Wong EM, Jenkins MA, Hopper JL, Brown MA, Chenevix-Trench G, Spurdle AB and Southey MC; kConFab: Molecular characterization and cancer risk associated with BRCA1 and BRCA2 splice site variants identified in multiple-case breast cancer families. Hum Mutat 26: 495, 2005.
    • (2005) Hum Mutat , vol.26 , pp. 495
    • Tesoriero, A.A.1    Wong, E.M.2    Jenkins, M.A.3    Hopper, J.L.4    Brown, M.A.5    Chenevix-Trench, G.6    Spurdle, A.B.7    Southey, M.C.8
  • 19
    • 33646815890 scopus 로고    scopus 로고
    • BRCA1 and BRCA2 mutation predictions using the BOADICEA and BRCAPRO models and penetrance estimation in high-risk French-Canadian families
    • INHERIT BRCAs program members
    • Antoniou AC, Durocher F, Smith P, Simard J and Easton DF; INHERIT BRCAs program members: BRCA1 and BRCA2 mutation predictions using the BOADICEA and BRCAPRO models and penetrance estimation in high-risk French-Canadian families. Breast Cancer Res 8: R3, 2006.
    • (2006) Breast Cancer Res , vol.8 , pp. R3
    • Antoniou, A.C.1    Durocher, F.2    Smith, P.3    Simard, J.4    Easton, D.F.5
  • 20
    • 42149193041 scopus 로고    scopus 로고
    • The BOADICEA model of genetic susceptibility to breast and ovarian cancers: Updates and extensions
    • Antoniou AC, Cunningham AP, Peto J, et al: The BOADICEA model of genetic susceptibility to breast and ovarian cancers: updates and extensions. Br J Cancer 98: 1457-1466, 2008.
    • (2008) Br J Cancer , vol.98 , pp. 1457-1466
    • Antoniou, A.C.1    Cunningham, A.P.2    Peto, J.3
  • 21
    • 84890800443 scopus 로고    scopus 로고
    • Capillary electrophoresis analysis of conventional splicing assays: IARC analytical and clinical classification of 31BRCA2 genetic variants
    • de Garibay GR, Acedo A, García-Casado Z, et al: Capillary electrophoresis analysis of conventional splicing assays: IARC analytical and clinical classification of 31BRCA2 genetic variants. Hum Mutat 35: 53-57, 2014.
    • (2014) Hum Mutat , vol.35 , pp. 53-57
    • De Garibay, G.R.1    Acedo, A.2    García-Casado, Z.3
  • 22
    • 84863873006 scopus 로고    scopus 로고
    • Guidelines for analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants
    • Houdayer C, Caux-Moncoutier V, Krieger S, et al: Guidelines for analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants. Hum Mutat 33: 1228-1238, 2012.
    • (2012) Hum Mutat , vol.33 , pp. 1228-1238
    • Houdayer, C.1    Caux-Moncoutier, V.2    Krieger, S.3
  • 23
    • 84893496863 scopus 로고    scopus 로고
    • Comparison of mRNA splicing assay protocols across multiple laboratories: Recommendations for best practicein standardized clinical testing
    • Whiley PJ, de la Hoya M, Thomassen M, et al: Comparison of mRNA splicing assay protocols across multiple laboratories: recommendations for best practicein standardized clinical testing. Clin Chem 60: 341-352, 2014.
    • (2014) Clin Chem , vol.60 , pp. 341-352
    • Whiley, P.J.1    De La Hoya, M.2    Thomassen, M.3
  • 25
    • 84875097557 scopus 로고    scopus 로고
    • Expression of human BRCA1Delta17-19 alternative splicing variant with a truncated BRCT domain in MCF-7 cells results in impaired assembly of DNA repair complexes and aberrant DNA damage response
    • Sevcik J, Falk M, Macurek L, et al: Expression of human BRCA1Delta17-19 alternative splicing variant with a truncated BRCT domain in MCF-7 cells results in impaired assembly of DNA repair complexes and aberrant DNA damage response. Cell Signal 25: 1186-1193, 2013.
    • (2013) Cell Signal , vol.25 , pp. 1186-1193
    • Sevcik, J.1    Falk, M.2    Macurek, L.3
  • 26
    • 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: 415-422, 2005.
    • (2005) Hum Mutat , vol.25 , pp. 415-422
    • Mazoyer, S.1
  • 27
    • 47149083097 scopus 로고    scopus 로고
    • Screening BRCA1 and BRCA2 unclassified variants for splicing mutations using reverse transcription PCR on patient RNA and an ex vivo assay based on a splicing reporter minigene
    • Bonnet C, Krieger S, Vezain M, et al: Screening BRCA1 and BRCA2 unclassified variants for splicing mutations using reverse transcription PCR on patient RNA and an ex vivo assay based on a splicing reporter minigene. J Med Genet 45: 438-446, 2008.
    • (2008) J Med Genet , vol.45 , pp. 438-446
    • Bonnet, C.1    Krieger, S.2    Vezain, M.3
  • 28
    • 68949105717 scopus 로고    scopus 로고
    • The variants BRCA1 IVS6-1G>A and BRCA2 IVS15+1G>A lead to aberrant splicing of the transcripts
    • Gutiérrez-Enríquez S, Coderch V, Masas M, Balmaña J and Diez O: The variants BRCA1 IVS6-1G>A and BRCA2 IVS15+1G>A lead to aberrant splicing of the transcripts. Breast Cancer Res Treat 117: 461-465, 2009.
    • (2009) Breast Cancer Res Treat , vol.117 , pp. 461-465
    • Gutiérrez-Enríquez, S.1    Coderch, V.2    Masas, M.3    Balmaña, J.4    Diez, O.5
  • 29
    • 0036848138 scopus 로고    scopus 로고
    • The nonsense-mediated mRNA decay pathway triggers degradation of most BRCA1 mRNAs bearing premature termination codons
    • Perrin-Vidoz L, Sinilnikova OM, Stoppa-Lyonnet D, Lenoir GM and Mazoyer S: The nonsense-mediated mRNA decay pathway triggers degradation of most BRCA1 mRNAs bearing premature termination codons. Hum Mol Genet 11: 2805-2814, 2002.
    • (2002) Hum Mol Genet , vol.11 , pp. 2805-2814
    • Perrin-Vidoz, L.1    Sinilnikova, O.M.2    Stoppa-Lyonnet, D.3    Lenoir, G.M.4    Mazoyer, S.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.