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Page 1
Rare germline variant (rs78378222) in the TP53 3' UTR: Evidence for a new mechanism of cancer predisposition in Li-Fraumeni syndrome.
Macedo GS, Araujo Vieira I, Brandalize AP, Giacomazzi J, Inez Palmero E, Volc S, Rodrigues Paixão-Côrtes V, Caleffi M, Silva Alves M, Achatz MI, Hainaut P, Ashton-Prolla P. Macedo GS, et al. Among authors: giacomazzi j. Cancer Genet. 2016 Mar;209(3):97-106. doi: 10.1016/j.cancergen.2015.12.012. Epub 2016 Jan 7. Cancer Genet. 2016. PMID: 26823150
Detection of R337H, a germline TP53 mutation predisposing to multiple cancers, in asymptomatic women participating in a breast cancer screening program in Southern Brazil.
Palmero EI, Schüler-Faccini L, Caleffi M, Achatz MI, Olivier M, Martel-Planche G, Marcel V, Aguiar E, Giacomazzi J, Ewald IP, Giugliani R, Hainaut P, Ashton-Prolla P. Palmero EI, et al. Among authors: giacomazzi j. Cancer Lett. 2008 Mar 8;261(1):21-5. doi: 10.1016/j.canlet.2007.10.044. Epub 2008 Jan 11. Cancer Lett. 2008. PMID: 18248785
The breast cancer immunophenotype of TP53-p.R337H carriers is different from that observed among other pathogenic TP53 mutation carriers.
Fitarelli-Kiehl M, Giacomazzi J, Santos-Silva P, Graudenz MS, Palmero EI, Michelli RA, Achatz MI, de Toledo Osório CA, de Faria Ferraz VE, Picanço CG, Ashton-Prolla P. Fitarelli-Kiehl M, et al. Among authors: giacomazzi j. Fam Cancer. 2015 Jun;14(2):333-6. doi: 10.1007/s10689-015-9779-y. Fam Cancer. 2015. PMID: 25564201
Increased oxidative damage in carriers of the germline TP53 p.R337H mutation.
Macedo GS, Lisbôa da Motta L, Giacomazzi J, Netto CB, Manfredini V, Vanzin CS, Vargas CR, Hainaut P, Klamt F, Ashton-Prolla P. Macedo GS, et al. Among authors: giacomazzi j. PLoS One. 2012;7(10):e47010. doi: 10.1371/journal.pone.0047010. Epub 2012 Oct 9. PLoS One. 2012. PMID: 23056559 Free PMC article.
A TP53 founder mutation, p.R337H, is associated with phyllodes breast tumors in Brazil.
Giacomazzi J, Koehler-Santos P, Palmero EI, Graudenz MS, Rivero LF, Lima E, Pütten AC, Hainaut P, Camey SA, Michelli RD, Neto CS, Fitarelli-Kiehl M, Geyer G, Meurer L, Geiger A, Azevedo MB, da Silva VD, Ashton-Prolla P. Giacomazzi J, et al. Virchows Arch. 2013 Jul;463(1):17-22. doi: 10.1007/s00428-013-1439-8. Epub 2013 Jun 21. Virchows Arch. 2013. PMID: 23794094
Prevalence of the TP53 p.R337H mutation in breast cancer patients in Brazil.
Giacomazzi J, Graudenz MS, Osorio CA, Koehler-Santos P, Palmero EI, Zagonel-Oliveira M, Michelli RA, Scapulatempo Neto C, Fernandes GC, Achatz MI, Martel-Planche G, Soares FA, Caleffi M, Goldim JR, Hainaut P, Camey SA, Ashton-Prolla P. Giacomazzi J, et al. PLoS One. 2014 Jun 17;9(6):e99893. doi: 10.1371/journal.pone.0099893. eCollection 2014. PLoS One. 2014. PMID: 24936644 Free PMC article.
40 results