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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.
Analysis of a set of missense, frameshift, and in-frame deletion variants of BRCA1.
Carvalho M, Pino MA, Karchin R, Beddor J, Godinho-Netto M, Mesquita RD, Rodarte RS, Vaz DC, Monteiro VA, Manoukian S, Colombo M, Ripamonti CB, Rosenquist R, Suthers G, Borg A, Radice P, Grist SA, Monteiro AN, Billack B. Carvalho M, et al. Among authors: colombo m. Mutat Res. 2009 Jan 15;660(1-2):1-11. doi: 10.1016/j.mrfmmm.2008.09.017. Epub 2008 Oct 17. Mutat Res. 2009. PMID: 18992264 Free PMC article.
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.
PALB2 sequencing in Italian familial breast cancer cases reveals a high-risk mutation recurrent in the province of Bergamo.
Catucci I, Peterlongo P, Ciceri S, Colombo M, Pasquini G, Barile M, Bonanni B, Verderio P, Pizzamiglio S, Foglia C, Falanga A, Marchetti M, Galastri L, Bianchi T, Corna C, Ravagnani F, Bernard L, Fortuzzi S, Sardella D, Scuvera G, Peissel B, Manoukian S, Tondini C, Radice P. Catucci I, et al. Among authors: colombo m. Genet Med. 2014 Sep;16(9):688-94. doi: 10.1038/gim.2014.13. Epub 2014 Feb 20. Genet Med. 2014. PMID: 24556926 Free article.
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, Santamariña M, Gutiérrez-Enríquez S, Romero A, Garre P, Becker A, Smith LD, De Vecchi G, Brandão RD, Tserpelis D, Brown M, Blanco A, Bonache S, Menéndez M, Houdayer C, Foglia C, Fackenthal JD, Baralle D, Wappenschmidt B; kConFaB Investigators; Díaz-Rubio E, Caldés T, Walker L, Díez O, Vega A, Spurdle AB, Radice P, De La Hoya M. Colombo M, et al. Hum Mol Genet. 2014 Jul 15;23(14):3666-80. doi: 10.1093/hmg/ddu075. Epub 2014 Feb 25. Hum Mol Genet. 2014. PMID: 24569164
2,508 results