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Page 1
The germline mutational landscape of BRCA1 and BRCA2 in Brazil.
Palmero EI, Carraro DM, Alemar B, Moreira MAM, Ribeiro-Dos-Santos Â, Abe-Sandes K, Galvão HCR, Reis RM, de Pádua Souza C, Campacci N, Achatz MI, Brianese RC, da Cruz Formiga MN, Makdissi FB, Vargas FR, Evangelista Dos Santos AC, Seuanez HN, Lobo de Souza KR, Netto CBO, Santos-Silva P, da Silva GS, Burbano RMR, Santos S, Assumpção PP, Bernardes IMM, Machado-Lopes TMB, Bomfim TF, Toralles MBP, Nascimento I, Garicochea B, Simon SD, Noronha S, de Lima FT, Chami AM, Bittar CM, Bines J, Artigalas O, Esteves-Diz MDP, Lajus TBP, Gifoni ACLVC, Guindalini RSC, Cintra TS, Schwartz IVD, Bernardi P, Miguel D, Nogueira STDS, Herzog J, Weitzel JN, Ashton-Prolla P. Palmero EI, et al. Among authors: bomfim tf. Sci Rep. 2018 Jun 15;8(1):9188. doi: 10.1038/s41598-018-27315-2. Sci Rep. 2018. PMID: 29907814 Free PMC article. Clinical Trial.
Germline mutations in BRCA1, BRCA2, CHEK2 and TP53 in patients at high-risk for HBOC: characterizing a Northeast Brazilian Population.
Felix GE, Abe-Sandes C, Machado-Lopes TM, Bomfim TF, Guindalini RS, Santos VC, Meyer L, Oliveira PC, Cláudio Neiva J, Meyer R, Romeo M, Betânia Toralles M, Nascimento I, Abe-Sandes K. Felix GE, et al. Among authors: bomfim tf. Hum Genome Var. 2014 Oct 16;1:14012. doi: 10.1038/hgv.2014.12. eCollection 2014. Hum Genome Var. 2014. PMID: 27081505 Free PMC article.
MLH1 intronic variants mapping to + 5 position of splice donor sites lead to deleterious effects on RNA splicing.
Piñero TA, Soukarieh O, Rolain M, Alvarez K, López-Köstner F, Torrezan GT, Carraro DM, De Oliveira Nascimento IL, Bomfim TF, Machado-Lopes TMB, Freitas JC, Toralles MB, Sandes KA, Rossi BM, Junior SA, Meira J, Dominguez-Valentin M, Møller P, Vaccaro CA, Martins A, Pavicic WH. Piñero TA, et al. Among authors: bomfim tf. Fam Cancer. 2020 Oct;19(4):323-336. doi: 10.1007/s10689-020-00182-5. Fam Cancer. 2020. PMID: 32363481
Types of marriages, population structure and genetic disease.
Machado TM, Bomfim TF, Souza LV, Soares N, Santos FL, Acosta AX, Abe-Sandes K. Machado TM, et al. Among authors: bomfim tf. J Biosoc Sci. 2013 Jul;45(4):461-70. doi: 10.1017/S0021932012000673. Epub 2012 Oct 25. J Biosoc Sci. 2013. PMID: 23095577