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Gelli E, Colombo M, Pinto AM, et al. Usefulness and Limitations of Comprehensive Characterization of mRNA Splicing Profiles in the Definition of the Clinical Relevance of . Cancers (Basel). 2019;11(3)doi: 10.3390/cancers11030295.
Gelli, E., Colombo, M., Pinto, A. M., De Vecchi, G., Foglia, C., Amitrano, S., Morbidoni, V., Imperatore, V., Manoukian, S., Baldassarri, M., Lo Rizzo, C., Catania, L., Frullanti, E., Tagliafico, E., Cortesi, L., Spaggiari, F., Mencarelli, M. A., Trevisson, E., Radice, P., Renieri, A., & Ariani, F. (2019). Usefulness and Limitations of Comprehensive Characterization of mRNA Splicing Profiles in the Definition of the Clinical Relevance of . Cancers, 11(3), . https://doi.org/10.3390/cancers11030295
Gelli, Elisa, et al. "Usefulness and Limitations of Comprehensive Characterization of mRNA Splicing Profiles in the Definition of the Clinical Relevance of ." Cancers vol. 11,3 (2019). doi: https://doi.org/10.3390/cancers11030295
Gelli E, Colombo M, Pinto AM, De Vecchi G, Foglia C, Amitrano S, Morbidoni V, Imperatore V, Manoukian S, Baldassarri M, Lo Rizzo C, Catania L, Frullanti E, Tagliafico E, Cortesi L, Spaggiari F, Mencarelli MA, Trevisson E, Radice P, Renieri A, Ariani F. Usefulness and Limitations of Comprehensive Characterization of mRNA Splicing Profiles in the Definition of the Clinical Relevance of . Cancers (Basel). 2019 Mar 01;11(3). doi: 10.3390/cancers11030295. PMID: 30832263; PMCID: PMC6468917.
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Cancers (Basel). 2019 Mar 01;11(3). doi: 10.3390/cancers11030295.

Usefulness and Limitations of Comprehensive Characterization of mRNA Splicing Profiles in the Definition of the Clinical Relevance of .

Cancers

Elisa Gelli, Mara Colombo, Anna Maria Pinto, Giovanna De Vecchi, Claudia Foglia, Sara Amitrano, Valeria Morbidoni, Valentina Imperatore, Siranoush Manoukian, Margherita Baldassarri, Caterina Lo Rizzo, Lorenza Catania, Elisa Frullanti, Enrico Tagliafico, Laura Cortesi, Federica Spaggiari, Maria Antonietta Mencarelli, Eva Trevisson, Paolo Radice, Alessandra Renieri, Francesca Ariani

Affiliations

  1. Medical Genetics, University of Siena, 53100 Siena, Italy. [email protected].
  2. Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Research, Fondazione IRCCS Istituto Nazionale dei Tumori (INT), 20133 Milan, Italy. [email protected].
  3. Medical Genetics, University of Siena, 53100 Siena, Italy. [email protected].
  4. Genetica medica Azienda Ospedaliera Universitaria Senese, 53100 Siena, Italy. [email protected].
  5. Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Research, Fondazione IRCCS Istituto Nazionale dei Tumori (INT), 20133 Milan, Italy. [email protected].
  6. Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Research, Fondazione IRCCS Istituto Nazionale dei Tumori (INT), 20133 Milan, Italy. [email protected].
  7. Genetica medica Azienda Ospedaliera Universitaria Senese, 53100 Siena, Italy. [email protected].
  8. Department of Woman and Child Health, University of Padova, 35128 Padova, Italy. [email protected].
  9. Istituto di Ricerca Pediatrica, IRP, Città della Speranza, 35129 Padova, Italy. [email protected].
  10. Medical Genetics, University of Siena, 53100 Siena, Italy. [email protected].
  11. Unit of Medical Genetics, Department of Medical Oncology and Hematology, Fondazione IRCCS Istituto Nazionale dei Tumori (INT), 20133 Milan, Italy. [email protected].
  12. Genetica medica Azienda Ospedaliera Universitaria Senese, 53100 Siena, Italy. [email protected].
  13. Genetica medica Azienda Ospedaliera Universitaria Senese, 53100 Siena, Italy. [email protected].
  14. Medical Genetics, University of Siena, 53100 Siena, Italy. [email protected].
  15. Medical Genetics, University of Siena, 53100 Siena, Italy. [email protected].
  16. Department of Medical and Surgical Science, Center for Genome Research, University of Modena and Reggio Emilia, 41125 Modena, Italy. [email protected].
  17. Department of Oncology and Haematology, Azienda Ospedaliero-Universitaria Policlinico, University of Modena and Reggio Emilia, 41124 Modena, Italy. [email protected].
  18. Department of Oncology and Haematology, Azienda Ospedaliero-Universitaria Policlinico, University of Modena and Reggio Emilia, 41124 Modena, Italy. [email protected].
  19. Genetica medica Azienda Ospedaliera Universitaria Senese, 53100 Siena, Italy. [email protected].
  20. Department of Woman and Child Health, University of Padova, 35128 Padova, Italy. [email protected].
  21. Istituto di Ricerca Pediatrica, IRP, Città della Speranza, 35129 Padova, Italy. [email protected].
  22. Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Research, Fondazione IRCCS Istituto Nazionale dei Tumori (INT), 20133 Milan, Italy. [email protected].
  23. Medical Genetics, University of Siena, 53100 Siena, Italy. [email protected].
  24. Genetica medica Azienda Ospedaliera Universitaria Senese, 53100 Siena, Italy. [email protected].
  25. Medical Genetics, University of Siena, 53100 Siena, Italy. [email protected].
  26. Genetica medica Azienda Ospedaliera Universitaria Senese, 53100 Siena, Italy. [email protected].

PMID: 30832263 PMCID: PMC6468917 DOI: 10.3390/cancers11030295

Abstract

Highly penetrant variants of

Keywords: BRCA; VUS; mRNA analysis; splicing

References

  1. Genes Chromosomes Cancer. 1999 Dec;26(4):381-2 - PubMed
  2. Nucleic Acids Res. 2001 Mar 1;29(5):1185-90 - PubMed
  3. Methods. 2001 Dec;25(4):402-8 - PubMed
  4. Nat Rev Genet. 2002 Apr;3(4):285-98 - PubMed
  5. Genes Chromosomes Cancer. 2003 Jul;37(3):314-20 - PubMed
  6. Hum Mutat. 2003 Oct;22(4):337 - PubMed
  7. J Comput Biol. 2004;11(2-3):377-94 - PubMed
  8. Nature. 2005 Apr 14;434(7035):917-21 - PubMed
  9. J Med Genet. 2005 Sep;42(9):711-9 - PubMed
  10. Hum Mutat. 2005 Nov;26(5):495 - PubMed
  11. Hum Mutat. 2006 May;27(5):427-35 - PubMed
  12. Mol Cell. 2006 Jun 23;22(6):719-29 - PubMed
  13. Cancer Genet Cytogenet. 2006 Oct 15;170(2):93-101 - PubMed
  14. Ann Oncol. 2007 Mar;18(3):581-92 - PubMed
  15. J Med Genet. 2008 Jul;45(7):438-46 - PubMed
  16. Hum Mutat. 2009 Jan;30(1):107-14 - PubMed
  17. Nucleic Acids Res. 2009 May;37(9):e67 - PubMed
  18. Mol Cancer Res. 2009 Jul;7(7):1110-8 - PubMed
  19. J Hum Genet. 2010 Jan;55(1):23-6 - PubMed
  20. Am J Hum Genet. 1991 Feb;48(2):232-42 - PubMed
  21. Clin Cancer Res. 2010 Mar 15;16(6):1957-67 - PubMed
  22. Breast Cancer Res Treat. 2010 Nov;124(1):259-64 - PubMed
  23. Breast J. 2011 Mar-Apr;17(2):210-2 - PubMed
  24. Int J Cancer. 2010 Dec 15;127(12):2893-917 - PubMed
  25. Hum Mutat. 2011 Jun;32(6):678-87 - PubMed
  26. Eur J Hum Genet. 2011 Oct;19(10):1052-8 - PubMed
  27. Breast Cancer Res Treat. 2012 Apr;132(3):979-92 - PubMed
  28. Breast Cancer Res Treat. 2012 Apr;132(3):1009-23 - PubMed
  29. Methods Mol Biol. 2011;760:269-81 - PubMed
  30. BMC Med Genet. 2011 Sep 22;12:121 - PubMed
  31. Hum Mutat. 2012 Jan;33(1):8-21 - PubMed
  32. Fam Cancer. 2012 Jun;11(2):235-42 - PubMed
  33. Hum Mutat. 2012 Aug;33(8):1228-38 - PubMed
  34. Breast Cancer Res. 2012 May 25;14(3):R87 - PubMed
  35. Science. 1990 Dec 21;250(4988):1684-9 - PubMed
  36. J Med Genet. 2012 Oct;49(10):609-17 - PubMed
  37. PLoS One. 2013;8(2):e57173 - PubMed
  38. Hum Mutat. 2013 Oct;34(10):1424-31 - PubMed
  39. Hum Mol Genet. 2014 Jul 15;23(14):3666-80 - PubMed
  40. J Mol Diagn. 2014 May;16(3):324-34 - PubMed
  41. Eur J Hum Genet. 2014 Dec;22(12):1362-8 - PubMed
  42. Nucleic Acids Res. 2014 Dec 16;42(22):13534-44 - PubMed
  43. CA Cancer J Clin. 2016 Jan-Feb;66(1):7-30 - PubMed
  44. Hum Mol Genet. 2016 Jun 1;25(11):2256-2268 - PubMed
  45. J Med Genet. 2016 Aug;53(8):548-58 - PubMed
  46. Eur J Intern Med. 2016 Jul;32:65-71 - PubMed
  47. Future Oncol. 2016 Sep;12(18):2071-5 - PubMed
  48. Clin Genet. 2017 Jul;92(1):34-44 - PubMed
  49. PLoS Genet. 2017 Mar 24;13(3):e1006691 - PubMed
  50. JAMA. 2017 Jun 20;317(23):2402-2416 - PubMed
  51. Hum Mutat. 2018 May;39(5):729-741 - PubMed
  52. Oncotarget. 2018 Apr 3;9(25):17334-17348 - PubMed
  53. Front Genet. 2018 Sep 05;9:366 - PubMed
  54. Proc Natl Acad Sci U S A. 1988 May;85(9):3044-8 - PubMed
  55. Nucleic Acids Res. 1987 Sep 11;15(17):7155-74 - PubMed
  56. Science. 1994 Oct 7;266(5182):66-71 - PubMed
  57. Nature. 1997 Apr 24;386(6627):772-3 - PubMed
  58. J Comput Biol. 1997 Fall;4(3):311-23 - PubMed

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