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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: de nicolo a, de giacomi c. Breast Cancer Res Treat. 2003 Sep;81(1):71-9. doi: 10.1023/a:1025428807472. Breast Cancer Res Treat. 2003. PMID: 14531499
BRAF Gene Copy Number and Mutant Allele Frequency Correlate with Time to Progression in Metastatic Melanoma Patients Treated with MAPK Inhibitors.
Stagni C, Zamuner C, Elefanti L, Zanin T, Bianco PD, Sommariva A, Fabozzi A, Pigozzo J, Mocellin S, Montesco MC, Chiarion-Sileni V, De Nicolo A, Menin C. Stagni C, et al. Among authors: de nicolo a. Mol Cancer Ther. 2018 Jun;17(6):1332-1340. doi: 10.1158/1535-7163.MCT-17-1124. Epub 2018 Apr 6. Mol Cancer Ther. 2018. PMID: 29626128
Combining common genetic variants and non-genetic risk factors to predict risk of cutaneous melanoma.
Gu F, Chen TH, Pfeiffer RM, Fargnoli MC, Calista D, Ghiorzo P, Peris K, Puig S, Menin C, De Nicolo A, Rodolfo M, Pellegrini C, Pastorino L, Evangelou E, Zhang T, Hua X, DellaValle CT, Timothy Bishop D, MacGregor S, Iles MI, Law MH, Cust A, Brown KM, Stratigos AJ, Nagore E, Chanock S, Shi J, Consortium MM, Consortium M, Landi MT. Gu F, et al. Among authors: de nicolo a. Hum Mol Genet. 2018 Dec 1;27(23):4145-4156. doi: 10.1093/hmg/ddy282. Hum Mol Genet. 2018. PMID: 30060076 Free PMC article.
Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification.
Parsons MT, Tudini E, Li H, Hahnen E, Wappenschmidt B, Feliubadaló L, Aalfs CM, Agata S, Aittomäki K, Alducci E, Alonso-Cerezo MC, Arnold N, Auber B, Austin R, Azzollini J, Balmaña J, Barbieri E, Bartram CR, Blanco A, Blümcke B, Bonache S, Bonanni B, Borg Å, Bortesi B, Brunet J, Bruzzone C, Bucksch K, Cagnoli G, Caldés T, Caliebe A, Caligo MA, Calvello M, Capone GL, Caputo SM, Carnevali I, Carrasco E, Caux-Moncoutier V, Cavalli P, Cini G, Clarke EM, Concolino P, Cops EJ, Cortesi L, Couch FJ, Darder E, de la Hoya M, Dean M, Debatin I, Del Valle J, Delnatte C, Derive N, Diez O, Ditsch N, Domchek SM, Dutrannoy V, Eccles DM, Ehrencrona H, Enders U, Evans DG, Farra C, Faust U, Felbor U, Feroce I, Fine M, Foulkes WD, Galvao HCR, Gambino G, Gehrig A, Gensini F, Gerdes AM, Germani A, Giesecke J, Gismondi V, Gómez C, Gómez Garcia EB, González S, Grau E, Grill S, Gross E, Guerrieri-Gonzaga A, Guillaud-Bataille M, Gutiérrez-Enríquez S, Haaf T, Hackmann K, Hansen TVO, Harris M, Hauke J, Heinrich T, Hellebrand H, Herold KN, Honisch E, Horvath J, Houdayer C, Hübbel V, Iglesias S, Izquierdo A, James PA, Janssen LAM, Jeschke U, Kaulfuß S, Keupp K, Kiechle M, Kölbl A, Krieger S, Kruse TA, K… See abstract for full author list ➔ Parsons MT, et al. Among authors: de nicolo a, de la hoya m. Hum Mutat. 2019 Sep;40(9):1557-1578. doi: 10.1002/humu.23818. Hum Mutat. 2019. PMID: 31131967 Free PMC article.
156 results