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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: barile 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.
A BRCA1 promoter variant (rs11655505) and breast cancer risk.
Verderio P, Pizzamiglio S, Southey MC, Spurdle AB, Hopper JL, Chen X, Beesley J; Australian Ovarian Cancer Study Group KConFab; Schmutzler RK, Engel C, Burwinkel B, Bugert P, Ficarazzi F, Manoukian S, Barile M, Wappenschmidt B, Chenevix-Trench G, Radice P, Peterlongo P. Verderio P, et al. Among authors: barile m. J Med Genet. 2010 Apr;47(4):268-70. doi: 10.1136/jmg.2009.073544. J Med Genet. 2010. PMID: 20413709
The CASP8 rs3834129 polymorphism and breast cancer risk in BRCA1 mutation carriers.
Catucci I, Verderio P, Pizzamiglio S, Manoukian S, Peissel B, Zaffaroni D, Roversi G, Ripamonti CB, Pasini B, Barile M, Viel A, Giannini G, Papi L, Varesco L, Martayan A, Riboni M, Volorio S, Radice P, Peterlongo P. Catucci I, et al. Among authors: barile m. Breast Cancer Res Treat. 2011 Feb;125(3):855-60. doi: 10.1007/s10549-010-1068-8. Epub 2010 Jul 22. Breast Cancer Res Treat. 2011. PMID: 20652397
The rs12975333 variant in the miR-125a and breast cancer risk in Germany, Italy, Australia and Spain.
Peterlongo P, Caleca L, Cattaneo E, Ravagnani F, Bianchi T, Galastri L, Bernard L, Ficarazzi F, Dall'olio V, Marme F, Langheinz A, Sohn C, Burwinkel B, Giles GG, Baglietto L, Severi G, Odefrey FA, Southey MC, Osorio A, Fernández F, Alonso MR, Benítez J, Barile M, Peissel B, Manoukian S, Radice P. Peterlongo P, et al. Among authors: barile m. J Med Genet. 2011 Oct;48(10):703-4. doi: 10.1136/jmedgenet-2011-100103. J Med Genet. 2011. PMID: 21931172 No abstract available.
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: barile 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.
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: barile 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.
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: barile 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.
Evaluation of SNPs in miR-146a, miR196a2 and miR-499 as low-penetrance alleles in German and Italian familial breast cancer cases.
Catucci I, Yang R, Verderio P, Pizzamiglio S, Heesen L, Hemminki K, Sutter C, Wappenschmidt B, Dick M, Arnold N, Bugert P, Niederacher D, Meindl A, Schmutzler RK, Bartram CC, Ficarazzi F, Tizzoni L, Zaffaroni D, Manoukian S, Barile M, Pierotti MA, Radice P, Burwinkel B, Peterlongo P. Catucci I, et al. Among authors: barile m. Hum Mutat. 2010 Jan;31(1):E1052-7. doi: 10.1002/humu.21141. Hum Mutat. 2010. PMID: 19847796
330 results