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Page 1
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, Kvist A,… See abstract for full author list ➔ Parsons MT, et al. Among authors: michelli rd. Hum Mutat. 2019 Sep;40(9):1557-1578. doi: 10.1002/humu.23818. Hum Mutat. 2019. PMID: 31131967 Free PMC article.
Whole-exome sequencing of non-BRCA1/BRCA2 mutation carrier cases at high-risk for hereditary breast/ovarian cancer.
Felicio PS, Grasel RS, Campacci N, de Paula AE, Galvão HCR, Torrezan GT, Sabato CS, Fernandes GC, Souza CP, Michelli RD, Andrade CE, Barros BDF, Matsushita MM, Revil T, Ragoussis J, Couch FJ, Hart SN, Reis RM, Melendez ME, Tonin PN, Carraro DM, Palmero EI. Felicio PS, et al. Among authors: michelli rd. Hum Mutat. 2021 Mar;42(3):290-299. doi: 10.1002/humu.24158. Epub 2020 Dec 28. Hum Mutat. 2021. PMID: 33326660 Free PMC article.
Identification of hereditary cancer in the general population: development and validation of a screening questionnaire for obtaining the family history of cancer.
Campacci N, de Lima JO, Carvalho AL, Michelli RD, Haikel R Jr, Mauad E, Viana DV, Melendez ME, Vazquez FL, Zanardo C, Reis RM, Rossi BM, Palmero EI. Campacci N, et al. Among authors: michelli rd. Cancer Med. 2017 Dec;6(12):3014-3024. doi: 10.1002/cam4.1210. Epub 2017 Oct 21. Cancer Med. 2017. PMID: 29055968 Free PMC article.
Screening and characterization of BRCA2 c.156_157insAlu in Brazil: Results from 1380 individuals from the South and Southeast.
Felicio PS, Alemar B, Coelho AS, Berardinelli GN, Melendez ME, Lengert AVH, Miche Lli RD, Reis RM, Fernandes GC, Ewald IP, Bittar CM, Netto CBO, Artigalas O, Peixoto A, Pinheiro M, Teixeira MR, Vargas FR, Dos Santos ACE, Moreira MAM, Ashton-Prolla P, Palmero EI. Felicio PS, et al. Cancer Genet. 2018 Dec;228-229:93-97. doi: 10.1016/j.cancergen.2018.09.001. Epub 2018 Oct 6. Cancer Genet. 2018. PMID: 30553478
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. Among authors: michelli rd. Virchows Arch. 2013 Jul;463(1):17-22. doi: 10.1007/s00428-013-1439-8. Epub 2013 Jun 21. Virchows Arch. 2013. PMID: 23794094