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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: palmero ei. Hum Mutat. 2019 Sep;40(9):1557-1578. doi: 10.1002/humu.23818. Hum Mutat. 2019. PMID: 31131967 Free PMC article.
BRCA1 and BRCA2 pathogenic sequence variants in women of African origin or ancestry.
Friebel TM, Andrulis IL, Balmaña J, Blanco AM, Couch FJ, Daly MB, Domchek SM, Easton DF, Foulkes WD, Ganz PA, Garber J, Glendon G, Greene MH, Hulick PJ, Isaacs C, Jankowitz RC, Karlan BY, Kirk J, Kwong A, Lee A, Lesueur F, Lu KH, Nathanson KL, Neuhausen SL, Offit K, Palmero EI, Sharma P, Tischkowitz M, Toland AE, Tung N, van Rensburg EJ, Vega A, Weitzel JN, Collaborators GS, Hoskins KF, Maga T, Parsons MT, McGuffog L, Antoniou AC, Chenevix-Trench G, Huo D, Olopade OI, Rebbeck TR. Friebel TM, et al. Among authors: palmero ei. Hum Mutat. 2019 Oct;40(10):1781-1796. doi: 10.1002/humu.23804. Epub 2019 Jul 3. Hum Mutat. 2019. PMID: 31112363 Free PMC article.
Risks of breast and ovarian cancer for women harboring pathogenic missense variants in BRCA1 and BRCA2 compared with those harboring protein truncating variants.
Li H, Engel C, de la Hoya M, Peterlongo P, Yannoukakos D, Livraghi L, Radice P, Thomassen M, Hansen TVO, Gerdes AM, Nielsen HR, Caputo SM, Zambelli A, Borg A, Solano A, Thomas A, Parsons MT, Antoniou AC, Leslie G, Yang X, Chenevix-Trench G, Caldes T, Kwong A, Pedersen IS, Lautrup CK, John EM, Terry MB, Hopper JL, Southey MC, Andrulis IL, Tischkowitz M, Janavicius R, Boonen SE, Kroeldrup L, Varesco L, Hamann U, Vega A, Palmero EI, Garber J, Montagna M, Van Asperen CJ, Foretova L, Greene MH, Selkirk T, Moller P, Toland AE, Domchek SM, James PA, Thorne H, Eccles DM, Nielsen SM, Manoukian S, Pasini B, Caligo MA, Lazaro C, Kirk J, Wappenschmidt B, Spurdle AB, Couch FJ, Schmutzler R, Goldgar DE; ENIGMA Consortium; CIMBA Consortium. Li H, et al. Among authors: palmero ei. Genet Med. 2022 Jan;24(1):119-129. doi: 10.1016/j.gim.2021.08.016. Epub 2021 Nov 30. Genet Med. 2022. PMID: 34906479 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. Among authors: palmero ei. Oncotarget. 2016 Dec 6;7(49):80465-80481. doi: 10.18632/oncotarget.12610. Oncotarget. 2016. PMID: 27741520 Free PMC article.
Genetic Testing and Clinical Management Practices for Variants in Non-BRCA1/2 Breast (and Breast/Ovarian) Cancer Susceptibility Genes: An International Survey by the Evidence-Based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) Clinical Working Group.
Nielsen SM, Eccles DM, Romero IL, Al-Mulla F, Balmaña J, Biancolella M, Bslok R, Caligo MA, Calvello M, Capone GL, Cavalli P, Chan TLC, Claes KBM, Cortesi L, Couch FJ, de la Hoya M, De Toffol S, Diez O, Domchek SM, Eeles R, Efremidis A, Fostira F, Goldgar D, Hadjisavvas A, Hansen TVO, Hirasawa A, Houdayer C, Kleiblova P, Krieger S, Lázaro C, Loizidou M, Manoukian S, Mensenkamp AR, Moghadasi S, Monteiro AN, Mori L, Morrow A, Naldi N, Nielsen HR, Olopade OI, Pachter NS, Palmero EI, Pedersen IS, Piane M, Puzzo M, Robson M, Rossing M, Sini MC, Solano A, Soukupova J, Tedaldi G, Teixeira M, Thomassen M, Tibiletti MG, Toland A, Törngren T, Vaccari E, Varesco L, Vega A, Wallis Y, Wappenschmidt B, Weitzel J, Spurdle AB, De Nicolo A, Gómez-García EB. Nielsen SM, et al. Among authors: palmero ei. JCO Precis Oncol. 2018;2:PO.18.00091. doi: 10.1200/PO.18.00091. Epub 2018 Oct 26. JCO Precis Oncol. 2018. PMID: 31517176 Free PMC article.
Risks of breast and ovarian cancer for women harboring pathogenic missense variants in BRCA1 and BRCA2 compared with those harboring protein truncating variants.
Li H, Engel C, Hoya M, Peterlongo P, Yannoukakos D, Livraghi L, Radice P, Thomassen M, Hansen TVO, Gerdes AM, Nielsen HR, Caputo SM, Zambelli A, Borg A, Solano A, Thomas A, Parsons MT, Antoniou AC, Leslie G, Yang X, Chenevix-Trench G, Caldes T, Kwong A, Pedersen IS, Lautrup CK, John EM, Terry MB, Hopper JL, Southey MC, Andrulis IL, Tischkowitz M, Janavicius R, Boonen SE, Kroeldrup L, Varesco L, Hamann U, Vega A, Palmero EI, Garber J, Montagna M, Van Asperen CJ, Foretova L, Greene MH, Selkirk T, Moller P, Toland AE, Domchek SM, James PA, Thorne H, Eccles DM, Nielsen SM, Manoukian S, Pasini B, Caligo MA, Lazaro C, Kirk J, Wappenschmidt B, Spurdle AB, Couch FJ, Schmutzler R, Goldgar DE; ENIGMA Consortium and CIMBA Consortium. Li H, et al. Among authors: palmero ei. Genet Med. 2022 Oct;24(10):2208. doi: 10.1016/j.gim.2022.08.005. Genet Med. 2022. PMID: 36205748 Free article. No abstract available.
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: palmero ei. 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.
Colorectal cancer incidences in Lynch syndrome: a comparison of results from the prospective lynch syndrome database and the international mismatch repair consortium.
Møller P, Seppälä T, Dowty JG, Haupt S, Dominguez-Valentin M, Sunde L, Bernstein I, Engel C, Aretz S, Nielsen M, Capella G, Evans DG, Burn J, Holinski-Feder E, Bertario L, Bonanni B, Lindblom A, Levi Z, Macrae F, Winship I, Plazzer JP, Sijmons R, Laghi L, Valle AD, Heinimann K, Half E, Lopez-Koestner F, Alvarez-Valenzuela K, Scott RJ, Katz L, Laish I, Vainer E, Vaccaro CA, Carraro DM, Gluck N, Abu-Freha N, Stakelum A, Kennelly R, Winter D, Rossi BM, Greenblatt M, Bohorquez M, Sheth H, Tibiletti MG, Lino-Silva LS, Horisberger K, Portenkirchner C, Nascimento I, Rossi NT, da Silva LA, Thomas H, Zaránd A, Mecklin JP, Pylvänäinen K, Renkonen-Sinisalo L, Lepisto A, Peltomäki P, Therkildsen C, Lindberg LJ, Thorlacius-Ussing O, von Knebel Doeberitz M, Loeffler M, Rahner N, Steinke-Lange V, Schmiegel W, Vangala D, Perne C, Hüneburg R, de Vargas AF, Latchford A, Gerdes AM, Backman AS, Guillén-Ponce C, Snyder C, Lautrup CK, Amor D, Palmero E, Stoffel E, Duijkers F, Hall MJ, Hampel H, Williams H, Okkels H, Lubiński J, Reece J, Ngeow J, Guillem JG, Arnold J, Wadt K, Monahan K, Senter L, Rasmussen LJ, van Hest LP, Ricciardiello L, Kohonen-Corish MRJ, Ligtenberg MJL, Southey M, Aronson M, Zahary… See abstract for full author list ➔ Møller P, et al. Hered Cancer Clin Pract. 2022 Oct 1;20(1):36. doi: 10.1186/s13053-022-00241-1. Hered Cancer Clin Pract. 2022. PMID: 36182917 Free PMC article.
81 results