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International distribution and age estimation of the Portuguese BRCA2 c.156_157insAlu founder mutation.
Peixoto A, Santos C, Pinheiro M, Pinto P, Soares MJ, Rocha P, Gusmão L, Amorim A, van der Hout A, Gerdes AM, Thomassen M, Kruse TA, Cruger D, Sunde L, Bignon YJ, Uhrhammer N, Cornil L, Rouleau E, Lidereau R, Yannoukakos D, Pertesi M, Narod S, Royer R, Costa MM, Lazaro C, Feliubadaló L, Graña B, Blanco I, de la Hoya M, Caldés T, Maillet P, Benais-Pont G, Pardo B, Laitman Y, Friedman E, Velasco EA, Durán M, Miramar MD, Valle AR, Calvo MT, Vega A, Blanco A, Diez O, Gutiérrez-Enríquez S, Balmaña J, Ramon y Cajal T, Alonso C, Baiget M, Foulkes W, Tischkowitz M, Kyle R, Sabbaghian N, Ashton-Prolla P, Ewald IP, Rajkumar T, Mota-Vieira L, Giannini G, Gulino A, Achatz MI, Carraro DM, de Paillerets BB, Remenieras A, Benson C, Casadei S, King MC, Teugels E, Teixeira MR. Peixoto A, et al. Breast Cancer Res Treat. 2011 Jun;127(3):671-9. doi: 10.1007/s10549-010-1036-3. Epub 2010 Jul 22. Breast Cancer Res Treat. 2011. PMID: 20652400 Free article.
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. 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
Genomic rearrangements in BRCA1 and BRCA2: A literature review.
Ewald IP, Ribeiro PL, Palmero EI, Cossio SL, Giugliani R, Ashton-Prolla P. Ewald IP, et al. Genet Mol Biol. 2009 Jul;32(3):437-46. doi: 10.1590/S1415-47572009005000049. Epub 2009 Sep 1. Genet Mol Biol. 2009. PMID: 21637503 Free PMC article.
Prevalence of the BRCA1 founder mutation c.5266dupin Brazilian individuals at-risk for the hereditary breast and ovarian cancer syndrome.
Ewald IP, Izetti P, Vargas FR, Moreira MA, Moreira AS, Moreira-Filho CA, Cunha DR, Hamaguchi S, Camey SA, Schmidt A, Caleffi M, Koehler-Santos P, Giugliani R, Ashton-Prolla P. Ewald IP, et al. Hered Cancer Clin Pract. 2011 Dec 20;9(1):12. doi: 10.1186/1897-4287-9-12. Hered Cancer Clin Pract. 2011. PMID: 22185575 Free PMC article.
Li-Fraumeni-like syndrome associated with a large BRCA1 intragenic deletion.
Silva AG, Ewald IP, Sapienza M, Pinheiro M, Peixoto A, de Nóbrega AF, Carraro DM, Teixeira MR, Ashton-Prolla P, Achatz MI, Rosenberg C, Krepischi AC. Silva AG, et al. BMC Cancer. 2012 Jun 12;12:237. doi: 10.1186/1471-2407-12-237. BMC Cancer. 2012. PMID: 22691290 Free PMC article.
172 results