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Year Number of Results
1969 1
1973 1
1997 1
2004 1
2005 1
2006 1
2007 1
2008 2
2009 1
2013 3
2014 2
2016 1
2017 1
2018 2
2019 2
2021 2
2022 1
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Page 1
Analysis of Italian BRCA1/2 Pathogenic Variants Identifies a Private Spectrum in the Population from the Bergamo Province in Northern Italy.
Figlioli G, De Nicolo A, Catucci I, Manoukian S, Peissel B, Azzollini J, Beltrami B, Bonanni B, Calvello M, Bondavalli D, Pasini B, Vignolo Lutati F, Ogliara P, Zuradelli M, Pensotti V, De Vecchi G, Volorio S, Verderio P, Pizzamiglio S, Matullo G, Aneli S, Birolo G, Zanardi F, Tondini C, Zambelli A, Livraghi L, Franchi M, Radice P, Peterlongo P. Figlioli G, et al. Among authors: de vecchi g. Cancers (Basel). 2021 Jan 30;13(3):532. doi: 10.3390/cancers13030532. Cancers (Basel). 2021. PMID: 33573335 Free PMC article.
The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity.
Colombo M, Lòpez-Perolio I, Meeks HD, Caleca L, Parsons MT, Li H, De Vecchi G, Tudini E, Foglia C, Mondini P, Manoukian S, Behar R, Garcia EBG, Meindl A, Montagna M, Niederacher D, Schmidt AY, Varesco L, Wappenschmidt B, Bolla MK, Dennis J, Michailidou K, Wang Q, Aittomäki K, Andrulis IL, Anton-Culver H, Arndt V, Beckmann MW, Beeghly-Fadel A, Benitez J, Boeckx B, Bogdanova NV, Bojesen SE, Bonanni B, Brauch H, Brenner H, Burwinkel B, Chang-Claude J, Conroy DM, Couch FJ, Cox A, Cross SS, Czene K, Devilee P, Dörk T, Eriksson M, Fasching PA, Figueroa J, Fletcher O, Flyger H, Gabrielson M, García-Closas M, Giles GG, González-Neira A, Guénel P, Haiman CA, Hall P, Hamann U, Hartman M, Hauke J, Hollestelle A, Hopper JL, Jakubowska A, Jung A, Kosma VM, Lambrechts D, Le Marchand L, Lindblom A, Lubinski J, Mannermaa A, Margolin S, Miao H, Milne RL, Neuhausen SL, Nevanlinna H, Olson JE, Peterlongo P, Peto J, Pylkäs K, Sawyer EJ, Schmidt MK, Schmutzler RK, Schneeweiss A, Schoemaker MJ, See MH, Southey MC, Swerdlow A, Teo SH, Toland AE, Tomlinson I, Truong T, van Asperen CJ, van den Ouweland AMW, van der Kolk LE, Winqvist R, Yannoukakos D, Zheng W; kConFab/AOCS Investigators, Dunning AM, Easton DF, Henderson A, Hogervorst FBL, Izatt L, Offitt K, Side LE, van Rensburg EJ, Embrace S, Hebon S, McGuffog L, Antoniou AC, Chenevix-Trench G, Spurdle AB, Goldgar DE, Hoya M, Radice P. Colombo M, et al. Among authors: de vecchi g. Hum Mutat. 2018 May;39(5):729-741. doi: 10.1002/humu.23411. Epub 2018 Apr 6. Hum Mutat. 2018. PMID: 29460995 Free PMC article.
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: de vecchi g. 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
Usefulness and Limitations of Comprehensive Characterization of mRNA Splicing Profiles in the Definition of the Clinical Relevance of BRCA1/2 Variants of Uncertain Significance.
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. Gelli E, et al. Among authors: de vecchi g. Cancers (Basel). 2019 Mar 1;11(3):295. doi: 10.3390/cancers11030295. Cancers (Basel). 2019. PMID: 30832263 Free PMC article.
Individuals with FANCM biallelic mutations do not develop Fanconi anemia, but show risk for breast cancer, chemotherapy toxicity and may display chromosome fragility.
Catucci I, Osorio A, Arver B, Neidhardt G, Bogliolo M, Zanardi F, Riboni M, Minardi S, Pujol R, Azzollini J, Peissel B, Manoukian S, De Vecchi G, Casola S, Hauke J, Richters L, Rhiem K, Schmutzler RK, Wallander K, Törngren T, Borg Å, Radice P, Surrallés J, Hahnen E, Ehrencrona H, Kvist A, Benitez J, Peterlongo P. Catucci I, et al. Among authors: de vecchi g. Genet Med. 2018 Apr;20(4):452-457. doi: 10.1038/gim.2017.123. Epub 2017 Aug 24. Genet Med. 2018. PMID: 28837162 Free 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: de vecchi g. 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.
Bilateral preaxial polydactyly in a WAGR syndrome patient.
Manoukian S, Crolla JA, Mammoliti PM, Testi MA, Zanini R, Carpanelli ML, Piozzi E, Sozzi G, De Vecchi G, Terenziani M, Spreafico F, Collini P, Radice P, Perotti D. Manoukian S, et al. Among authors: de vecchi g. Am J Med Genet A. 2005 May 1;134(4):426-9. doi: 10.1002/ajmg.a.30647. Am J Med Genet A. 2005. PMID: 15742368
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. Among authors: de vecchi g. 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
20 results