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Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations.
Rebbeck TR, Friebel TM, Friedman E, Hamann U, Huo D, Kwong A, Olah E, Olopade OI, Solano AR, Teo SH, Thomassen M, Weitzel JN, Chan TL, Couch FJ, Goldgar DE, Kruse TA, Palmero EI, Park SK, Torres D, van Rensburg EJ, McGuffog L, Parsons MT, Leslie G, Aalfs CM, Abugattas J, Adlard J, Agata S, Aittomäki K, Andrews L, Andrulis IL, Arason A, Arnold N, Arun BK, Asseryanis E, Auerbach L, Azzollini J, Balmaña J, Barile M, Barkardottir RB, Barrowdale D, Benitez J, Berger A, Berger R, Blanco AM, Blazer KR, Blok MJ, Bonadona V, Bonanni B, Bradbury AR, Brewer C, Buecher B, Buys SS, Caldes T, Caliebe A, Caligo MA, Campbell I, Caputo SM, Chiquette J, Chung WK, Claes KBM, Collée JM, Cook J, Davidson R, de la Hoya M, De Leeneer K, de Pauw A, Delnatte C, Diez O, Ding YC, Ditsch N, Domchek SM, Dorfling CM, Velazquez C, Dworniczak B, Eason J, Easton DF, Eeles R, Ehrencrona H, Ejlertsen B; EMBRACE; Engel C, Engert S, Evans DG, Faivre L, Feliubadaló L, Ferrer SF, Foretova L, Fowler J, Frost D, Galvão HCR, Ganz PA, Garber J, Gauthier-Villars M, Gehrig A; GEMO Study Collaborators; Gerdes AM, Gesta P, Giannini G, Giraud S, Glendon G, Godwin AK, Greene MH, Gronwald J, Gutierrez-Barrera A, Hahnen E, … See abstract for full author list ➔ Rebbeck TR, et al. Among authors: galvao hcr. Hum Mutat. 2018 May;39(5):593-620. doi: 10.1002/humu.23406. Epub 2018 Mar 12. Hum Mutat. 2018. PMID: 29446198 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: galvao hcr. 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: galvao hcr. 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.
Prevalence of BRCA1/BRCA2 mutations in a Brazilian population sample at-risk for hereditary breast cancer and characterization of its genetic ancestry.
Fernandes GC, Michelli RA, Galvão HC, Paula AE, Pereira R, Andrade CE, Felicio PS, Souza CP, Mendes DR, Volc S, Berardinelli GN, Grasel RS, Sabato CS, Viana DV, Mauad EC, Scapulatempo-Neto C, Arun B, Reis RM, Palmero EI. Fernandes GC, et al. Oncotarget. 2016 Dec 6;7(49):80465-80481. doi: 10.18632/oncotarget.12610. Oncotarget. 2016. PMID: 27741520 Free PMC article.
Genetic alterations detected by comparative genomic hybridization in BRCAX breast and ovarian cancers of Brazilian population.
Felicio PS, Bidinotto LT, Melendez ME, Grasel RS, Campacci N, Galvão HCR, Scapulatempo-Neto C, Dufloth RM, Evangelista AF, Palmero EI. Felicio PS, et al. Among authors: galvao hcr. Oncotarget. 2018 Jun 8;9(44):27525-27534. doi: 10.18632/oncotarget.25537. eCollection 2018 Jun 8. Oncotarget. 2018. PMID: 29938003 Free PMC article.
Genotype and phenotype landscape of MEN2 in 554 medullary thyroid cancer patients: the BrasMEN study.
Maciel RMB, Camacho CP, Assumpção LVM, Bufalo NE, Carvalho AL, de Carvalho GA, Castroneves LA, de Castro FM, Ceolin L, Cerutti JM, Corbo R, Ferraz TMBL, Ferreira CV, França MIC, Galvão HCR, Germano-Neto F, Graf H, Jorge AAL, Kunii IS, Lauria MW, Leal VLG, Lindsey SC, Lourenço DM, Maciel LMZ, Magalhães PKR, Martins JRM, Martins-Costa MC, Mazeto GMFS, Impellizzeri AI, Nogueira CR, Palmero EI, Pessoa CHCN, Prada B, Siqueira DR, Sousa MSA, Toledo RA, Valente FOF, Vaisman F, Ward LS, Weber SS, Weiss RV, Yang JH, Dias-da-Silva MR, Hoff AO, Toledo SPA, Maia AL. Maciel RMB, et al. Among authors: galvao hcr. Endocr Connect. 2019 Mar 1;8(3):289-298. doi: 10.1530/EC-18-0506. Endocr Connect. 2019. PMID: 30763276 Free PMC article.
XAF1 as a modifier of p53 function and cancer susceptibility.
Pinto EM, Figueiredo BC, Chen W, Galvao HCR, Formiga MN, Fragoso MCBV, Ashton-Prolla P, Ribeiro EMSF, Felix G, Costa TEB, Savage SA, Yeager M, Palmero EI, Volc S, Salvador H, Fuster-Soler JL, Lavarino C, Chantada G, Vaur D, Odone-Filho V, Brugières L, Else T, Stoffel EM, Maxwell KN, Achatz MI, Kowalski L, de Andrade KC, Pappo A, Letouze E, Latronico AC, Mendonca BB, Almeida MQ, Brondani VB, Bittar CM, Soares EWS, Mathias C, Ramos CRN, Machado M, Zhou W, Jones K, Vogt A, Klincha PP, Santiago KM, Komechen H, Paraizo MM, Parise IZS, Hamilton KV, Wang J, Rampersaud E, Clay MR, Murphy AJ, Lalli E, Nichols KE, Ribeiro RC, Rodriguez-Galindo C, Korbonits M, Zhang J, Thomas MG, Connelly JP, Pruett-Miller S, Diekmann Y, Neale G, Wu G, Zambetti GP. Pinto EM, et al. Among authors: galvao hcr. Sci Adv. 2020 Jun 24;6(26):eaba3231. doi: 10.1126/sciadv.aba3231. eCollection 2020 Jun. Sci Adv. 2020. PMID: 32637605 Free PMC article.
Functional pri-miR-34b/c rs4938723 and KRAS 3'UTR rs61764370 SNPs: Novel phenotype modifiers in Li-Fraumeni Syndrome?
Vieira IA, Pezzi EH, Bandeira IC, Reis LB, de Araújo Rocha YM, Fernandes BV, Siebert M, Miyamoto KN, Siqueira MB, Achatz MI, Galvão HCR, Garcia FAO, Campacci N, Carraro DM, Formiga MN, Vianna FSL, Palmero EI, Macedo GS, Ashton-Prolla P. Vieira IA, et al. Among authors: galvao hcr. Gene. 2024 Mar 10;898:148069. doi: 10.1016/j.gene.2023.148069. Epub 2023 Dec 7. Gene. 2024. PMID: 38070788
20 results