The variants BRCA1 IVS6-1G>A and BRCA2 IVS15+1G>A lead to aberrant splicing of the transcripts
作者： Sara Gutiérrez-Enríquez , Verònica Coderch , Miriam Masas , Judith Balmaña , Orland Diez
DOI: 10.1007/S10549-008-0154-7
关键词:
摘要: The majority of BRCA1 and BRCA2 deleterious mutations variants unknown significance have been identified in genomic DNA their effects at the mRNA level not reported. Our aim was to ascertain pathological effect IVS6-1G>A (c. 302-1G>A) IVS15+1G>A 7617+1G>A) detected Spanish breast/ovarian cancer families. Sequencing cDNA from allele revealed an inappropriate splicing exon 7. analysis showed skipping 15. Both alterations predicted appearance premature stop codons. findings highlight importance studying RNA levels order clarify suspected mutation provide adequate counseling for
springer.com
sci-hub.se 参考文章(15)
A. A. Tesoriero, E. M. Wong, M. A. Jenkins, J. L. Hopper, kConFab, M. A. Brown, G. Chenevix-Trench, A. B. Spurdle, M. C. Southey, Molecular Characterization and Cancer Risk Associated with BRCA1 and BRCA2 Splice Site Variants Identified in Multiple-Case Breast Cancer Families Human Mutation. ,vol. 26, pp. 495- 495 ,(2005) , 10.1002/HUMU.9379
M. T. Pyne, A. R. Brothman, B. Ward, D. Pruss, B. C. Hendrickson, T. Scholl, The BRCA2 genetic variant IVS7 + 2T → G is a mutation Journal of Human Genetics. ,vol. 45, pp. 351- 357 ,(2000) , 10.1007/S100380070007
Chun-Fang Xu, Julie A. Chambers, Hans Nicolai, Melissa A. Brown, Yasir Hujeirat, Shehla Mohammed, Shirley Hodgson, David P. Kelsell, Nigel K. Spurr, D. Timothy Bishop, Ellen Solomon, Mutations and alternative splicing of the BRCA1 gene in UK breast/ovarian cancer families. Genes, Chromosomes and Cancer. ,vol. 18, pp. 102- 110 ,(1997) , 10.1002/(SICI)1098-2264(199702)18:2<102::AID-GCC4>3.0.CO;2-6
Fabrizia Bonatti, Chiara Pepe, Mariella Tancredi, Grazia Lombardi, Paolo Aretini, Elisa Sensi, Elisabetta Falaschi, Giovanna Cipollini, Generoso Bevilacqua, Maria Adelaide Caligo, RNA-based analysis of BRCA1 and BRCA2 gene alterations. Cancer Genetics and Cytogenetics. ,vol. 170, pp. 93- 101 ,(2006) , 10.1016/J.CANCERGENCYTO.2006.05.005
Yoshio Miki, Jeff Swensen, Donna Shattuck-Eidens, P Andrew Futreal, Keith Harshman, Sean Tavtigian, Qingyun Liu, Charles Cochran, L Michelle Bennett, Wei Ding, Russell Bell, Judith Rosenthal, Charles Hussey, Thanh Tran, Melody McClure, Cheryl Frye, Tom Hattier, Robert Phelps, Astrid Haugen-Strano, Harold Katcher, Kazuko Yakumo, Zahra Gholami, Daniel Shaffer, Steven Stone, Steven Bayer, Christian Wray, Robert Bogden, Priya Dayananth, John Ward, Patricia Tonin, Steven Narod, Pam K Bristow, Frank H Norris, Leah Helvering, Paul Morrison, Paul Rosteck, Mei Lai, J Carl Barrett, Cathryn Lewis, Susan Neuhausen, Lisa Cannon-Albright, David Goldgar, Roger Wiseman, Alexander Kamb, Mark H Skolnick, A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1 Science. ,vol. 266, pp. 66- 71 ,(1994) , 10.1126/SCIENCE.7545954
Xiaowei Chen, Tuyet-Trinh N. Truong, JoEllen Weaver, Betsy A. Bove, Kimberly Cattie, Brock A. Armstrong, Mary B. Daly, Andrew K. Godwin, Intronic alterations in BRCA1 and BRCA2: effect on mRNA splicing fidelity and expression. Human Mutation. ,vol. 27, pp. 427- 435 ,(2006) , 10.1002/HUMU.20319
A BRCA1 variant, IVS23+1G-->A, causes abnormal RNA splicing by deleting exon 23. Cancer Genetics and Cytogenetics. ,vol. 127, pp. 188- 190 ,(2001) , 10.1016/S0165-4608(01)00433-2
M.C. Southey, A. Tesoriero, M.A. Young, A. J. Holloway, M.A. Jenkins, J. Whitty, S. Misfud, kConFab, S.A. McLachlan, D.J. Venter, J.E. Armes, A specific GFP expression assay, penetrance estimate, and histological assessment for a putative splice site mutation in BRCA1. Human Mutation. ,vol. 22, pp. 86- 91 ,(2003) , 10.1002/HUMU.10224
Michael Krawczak, Jochen Reiss, DavidN. Cooper, The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences. Human Genetics. ,vol. 90, pp. 41- 54 ,(1992) , 10.1007/BF00210743
C Bonnet, S Krieger, M Vezain, A Rousselin, I Tournier, A Martins, P Berthet, A Chevrier, C Dugast, V Layet, A Rossi, R Lidereau, T Frebourg, A Hardouin, M Tosi, 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 Journal of Medical Genetics. ,vol. 45, pp. 438- 446 ,(2008) , 10.1136/JMG.2007.056895