Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

2,511 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor.
Peterlongo P, Catucci I, Colombo M, Caleca L, Mucaki E, Bogliolo M, Marin M, Damiola F, Bernard L, Pensotti V, Volorio S, Dall'Olio V, Meindl A, Bartram C, Sutter C, Surowy H, Sornin V, Dondon MG, Eon-Marchais S, Stoppa-Lyonnet D, Andrieu N, Sinilnikova OM; GENESIS; Mitchell G, James PA, Thompson E; kConFab; SWE-BRCA; Marchetti M, Verzeroli C, Tartari C, Capone GL, Putignano AL, Genuardi M, Medici V, Marchi I, Federico M, Tognazzo S, Matricardi L, Agata S, Dolcetti R, Della Puppa L, Cini G, Gismondi V, Viassolo V, Perfumo C, Mencarelli MA, Baldassarri M, Peissel B, Roversi G, Silvestri V, Rizzolo P, Spina F, Vivanet C, Tibiletti MG, Caligo MA, Gambino G, Tommasi S, Pilato B, Tondini C, Corna C, Bonanni B, Barile M, Osorio A, Benitez J, Balestrino L, Ottini L, Manoukian S, Pierotti MA, Renieri A, Varesco L, Couch FJ, Wang X, Devilee P, Hilbers FS, van Asperen CJ, Viel A, Montagna M, Cortesi L, Diez O, Balmaña J, Hauke J, Schmutzler RK, Papi L, Pujana MA, Lázaro C, Falanga A, Offit K, Vijai J, Campbell I, Burwinkel B, Kvist A, Ehrencrona H, Mazoyer S, Pizzamiglio S, Verderio P, Surralles J, Rogan PK, Radice P. Peterlongo P, et al. Among authors: colombo m. Hum Mol Genet. 2015 Sep 15;24(18):5345-55. doi: 10.1093/hmg/ddv251. Epub 2015 Jun 30. Hum Mol Genet. 2015. PMID: 26130695 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.
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.
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.
2,511 results