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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: pierotti ma. 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.
Germline mutations of TP53 and BRCA2 genes in breast cancer/sarcoma families.
Manoukian S, Peissel B, Pensotti V, Barile M, Cortesi L, Stacchiotti S, Terenziani M, Barbera F, Pasquini G, Frigerio S, Pierotti MA, Radice P, Della-Torre G. Manoukian S, et al. Among authors: pierotti ma. Eur J Cancer. 2007 Feb;43(3):601-6. doi: 10.1016/j.ejca.2006.09.024. Epub 2007 Jan 16. Eur J Cancer. 2007. PMID: 17224268
Mean age of tumor onset in hereditary nonpolyposis colorectal cancer (HNPCC) families correlates with the presence of mutations in DNA mismatch repair genes.
Pensotti V, Radice P, Presciuttini S, Calistri D, Gazzoli I, Grimalt Perez A, Mondini P, Buonsanti G, Sala P, Rossetti C, Ranzani GN, Bertario L, Pierotti MA. Pensotti V, et al. Among authors: pierotti ma. Genes Chromosomes Cancer. 1997 Jul;19(3):135-42. Genes Chromosomes Cancer. 1997. PMID: 9218993
Cyclooxygenase-2 expression in FAP patients carrying germ line MYH mutations.
Frattini M, Carnevali I, Signoroni S, Balestra D, Moiraghi ML, Radice P, Varesco L, Gismondi V, Ballardini G, Sala P, Pierotti MA, Pilotti S, Bertario L. Frattini M, et al. Among authors: pierotti ma. Cancer Epidemiol Biomarkers Prev. 2005 Aug;14(8):2049-52. doi: 10.1158/1055-9965.EPI-05-0028. Cancer Epidemiol Biomarkers Prev. 2005. PMID: 16103460
Different expressivity of BRCA1 and BRCA2: analysis of 179 Italian pedigrees with identified mutation.
Aretini P, D'Andrea E, Pasini B, Viel A, Mariani Costantini R, Cortesi L, Ricevuto E, Agata S, Bisegna R, Boiocchi M, Caligo MA, Chieco-Bianchi L, Cipollini G, Crucianelli R, D'Amico C, Federico M, Ghimenti C, De Giacomi C, De Nicolo A, Della Puppa L, Ferrari S, Ficorella C, Iandolo D, Manoukian S, Marchetti P, Marroni F, Menin C, Montagna M, Ottini L, Pensotti V, Pierotti M, Radice P, Santarosa M, Silingardi V, Turchetti D, Bevilacqua G, Presciuttini S. Aretini P, et al. Among authors: pierotti m. Breast Cancer Res Treat. 2003 Sep;81(1):71-9. doi: 10.1023/a:1025428807472. Breast Cancer Res Treat. 2003. PMID: 14531499
471 results