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Naturally occurring BRCA2 alternative mRNA splicing events in clinically relevant samples.
Fackenthal JD, Yoshimatsu T, Zhang B, de Garibay GR, Colombo M, De Vecchi G, Ayoub SC, Lal K, Olopade OI, Vega A, Santamariña M, Blanco A, Wappenschmidt B, Becker A, Houdayer C, Walker LC, López-Perolio I, Thomassen M, Parsons M, Whiley P, Blok MJ, Brandão RD, Tserpelis D, Baralle D, Montalban G, Gutiérrez-Enríquez S, Díez O, Lazaro C; kConFaB Investigators; Spurdle AB, Radice P, de la Hoya M. Fackenthal JD, et al. Among authors: colombo m. J Med Genet. 2016 Aug;53(8):548-58. doi: 10.1136/jmedgenet-2015-103570. Epub 2016 Apr 8. J Med Genet. 2016. PMID: 27060066
An unusual BRCA2 allele carrying two splice site mutations.
Colombo M, Ripamonti CB, Pensotti V, Foglia C, Peissel B, Pierotti MA, Manoukian S, Radice P. Colombo M, et al. Ann Oncol. 2009 Jun;20(6):1143-4. doi: 10.1093/annonc/mdp241. Epub 2009 May 7. Ann Oncol. 2009. PMID: 19423647 Free article. No abstract available.
HMGA1 protein expression in familial breast carcinoma patients.
Chiappetta G, Ottaiano A, Vuttariello E, Monaco M, Galdiero F, Gallipoli A, Pilotti S, Jodice G, Siranoush M, Colombo M, Ripamonti CB, Pallante PL, Radice P, Fusco A. Chiappetta G, et al. Among authors: colombo m. Eur J Cancer. 2010 Jan;46(2):332-9. doi: 10.1016/j.ejca.2009.10.015. Epub 2009 Nov 5. Eur J Cancer. 2010. PMID: 19896837
Sequencing analysis of SLX4/FANCP gene in Italian familial breast cancer cases.
Catucci I, Colombo M, Verderio P, Bernard L, Ficarazzi F, Mariette F, Barile M, Peissel B, Cattaneo E, Manoukian S, Radice P, Peterlongo P. Catucci I, et al. Among authors: colombo m. PLoS One. 2012;7(2):e31038. doi: 10.1371/journal.pone.0031038. Epub 2012 Feb 23. PLoS One. 2012. PMID: 22383991 Free PMC article.
Evaluation of a 5-tier scheme proposed for classification of sequence variants using bioinformatic and splicing assay data: inter-reviewer variability and promotion of minimum reporting guidelines.
Walker LC, Whiley PJ, Houdayer C, Hansen TV, Vega A, Santamarina M, Blanco A, Fachal L, Southey MC, Lafferty A, Colombo M, De Vecchi G, Radice P, Spurdle AB; ENIGMA consortium. Walker LC, et al. Among authors: colombo m. Hum Mutat. 2013 Oct;34(10):1424-31. doi: 10.1002/humu.22388. Epub 2013 Aug 13. Hum Mutat. 2013. PMID: 23893897
Comparison of mRNA splicing assay protocols across multiple laboratories: recommendations for best practice in standardized clinical testing.
Whiley PJ, de la Hoya M, Thomassen M, Becker A, Brandão R, Pedersen IS, Montagna M, Menéndez M, Quiles F, Gutiérrez-Enríquez S, De Leeneer K, Tenés A, Montalban G, Tserpelis D, Yoshimatsu T, Tirapo C, Raponi M, Caldes T, Blanco A, Santamariña M, Guidugli L, de Garibay GR, Wong M, Tancredi M, Fachal L, Ding YC, Kruse T, Lattimore V, Kwong A, Chan TL, Colombo M, De Vecchi G, Caligo M, Baralle D, Lázaro C, Couch F, Radice P, Southey MC, Neuhausen S, Houdayer C, Fackenthal J, Hansen TV, Vega A, Diez O, Blok R, Claes K, Wappenschmidt B, Walker L, Spurdle AB, Brown MA; ENIGMA consortium. Whiley PJ, et al. Among authors: colombo m. Clin Chem. 2014 Feb;60(2):341-52. doi: 10.1373/clinchem.2013.210658. Epub 2013 Nov 8. Clin Chem. 2014. PMID: 24212087 Free PMC article.
Characterization of an Italian founder mutation in the RING-finger domain of BRCA1.
Caleca L, Putignano AL, Colombo M, Congregati C, Sarkar M, Magliery TJ, Ripamonti CB, Foglia C, Peissel B, Zaffaroni D, Manoukian S, Tondini C, Barile M, Pensotti V, Bernard L, Papi L, Radice P. Caleca L, et al. Among authors: colombo m. PLoS One. 2014 Feb 6;9(2):e86924. doi: 10.1371/journal.pone.0086924. eCollection 2014. PLoS One. 2014. PMID: 24516540 Free PMC article.
2,507 results