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2018 2
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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: torres esquius s. Hum Mutat. 2019 Sep;40(9):1557-1578. doi: 10.1002/humu.23818. Hum Mutat. 2019. PMID: 31131967 Free PMC article.
Multigene panel testing beyond BRCA1/2 in breast/ovarian cancer Spanish families and clinical actionability of findings.
Bonache S, Esteban I, Moles-Fernández A, Tenés A, Duran-Lozano L, Montalban G, Bach V, Carrasco E, Gadea N, López-Fernández A, Torres-Esquius S, Mancuso F, Caratú G, Vivancos A, Tuset N, Balmaña J, Gutiérrez-Enríquez S, Diez O. Bonache S, et al. Among authors: torres esquius s. J Cancer Res Clin Oncol. 2018 Dec;144(12):2495-2513. doi: 10.1007/s00432-018-2763-9. Epub 2018 Oct 10. J Cancer Res Clin Oncol. 2018. PMID: 30306255
Prevalence of Homologous Recombination Deficiency Among Patients With Germline RAD51C/D Breast or Ovarian Cancer.
Torres-Esquius S, Llop-Guevara A, Gutiérrez-Enríquez S, Romey M, Teulé À, Llort G, Herrero A, Sánchez-Henarejos P, Vallmajó A, González-Santiago S, Chirivella I, Cano JM, Graña B, Simonetti S, Díaz de Corcuera I, Ramon Y Cajal T, Sanz J, Serrano S, Otero A, Churruca C, Sánchez-Heras AB, Servitja S, Guillén-Ponce C, Brunet J, Denkert C, Serra V, Balmaña J. Torres-Esquius S, et al. JAMA Netw Open. 2024 Apr 1;7(4):e247811. doi: 10.1001/jamanetworkopen.2024.7811. JAMA Netw Open. 2024. PMID: 38648056 Free PMC article.
Germline assessment for alloHSCT candidates over 50 years: A 'Fast-Track' screening in myeloid neoplasms.
Torres-Esquius S, Beas F, Chen-Liang TH, Pomares H, Santiago M, Varela ND, Liquori A, Hernandez F, Xicoy B, Hermosín L, Arnan M, Tazón-Vega B, Blanco A, Cervera J, Diez-Campelo M, Lozano ML, Valcárcel D, Bosch F, Montoro MJ, Jerez A; GESMD centres. Torres-Esquius S, et al. Br J Haematol. 2024 Aug;205(2):503-509. doi: 10.1111/bjh.19460. Epub 2024 Apr 19. Br J Haematol. 2024. PMID: 38639421
Risk of endometrial cancer after RRSO in BRCA 1/2 carriers: a multicentre cohort study.
Pla-Juher H, Pardo M, Izquierdo ÀJ, Darder E, Carbó A, Munté E, Torres-Esquius S, Balmaña J, Lázaro C, Brunet JM, Barretina-Ginesta MP. Pla-Juher H, et al. Among authors: torres esquius s. Clin Transl Oncol. 2024 Apr;26(4):1033-1037. doi: 10.1007/s12094-023-03312-4. Epub 2023 Sep 8. Clin Transl Oncol. 2024. PMID: 37682500 Free PMC article.
A case of Rothmund-Thomson syndrome originally thought to be a case of Bloom syndrome.
Marmolejo Castañeda DH, Cruellas Lapeña M, Carrasco López E, Aparicio Español G, Valverde Morales C, López-Fernández A, Pérez Ballesteros E, Torres-Esquius S, Pardo Muñoz M, Balmaña Gelpi J. Marmolejo Castañeda DH, et al. Among authors: torres esquius s. Fam Cancer. 2023 Jan;22(1):99-102. doi: 10.1007/s10689-022-00303-2. Epub 2022 Jul 4. Fam Cancer. 2023. PMID: 35781852
Role of psychological background in cancer susceptibility genetic testing distress: It is not only about a positive result.
López-Fernández A, Villacampa G, Salinas M, Grau E, Darder E, Carrasco E, Solanes A, Velasco A, Torres M, Munté E, Iglesias S, Torres-Esquius S, Tuset N, Diez O, Lázaro C, Brunet J, Corbella S, Balmaña J. López-Fernández A, et al. Among authors: torres esquius s. J Genet Couns. 2023 Aug;32(4):778-787. doi: 10.1002/jgc4.1687. Epub 2023 Feb 7. J Genet Couns. 2023. PMID: 36748747
Patients' and professionals' perspective of non-in-person visits in hereditary cancer: predictors and impact of the COVID-19 pandemic.
López-Fernández A, Villacampa G, Grau E, Salinas M, Darder E, Carrasco E, Torres-Esquius S, Iglesias S, Solanes A, Gadea N, Velasco A, Urgell G, Torres M, Tuset N, Brunet J, Corbella S, Balmaña J. López-Fernández A, et al. Among authors: torres esquius s. Genet Med. 2021 Aug;23(8):1450-1457. doi: 10.1038/s41436-021-01157-2. Epub 2021 Apr 6. Genet Med. 2021. PMID: 33824504 Free PMC article.
BARD1 Pathogenic Variants are Associated with Triple-Negative Breast Cancer in a Spanish Hereditary Breast and Ovarian Cancer Cohort.
Rofes P, Del Valle J, Torres-Esquius S, Feliubadaló L, Stradella A, Moreno-Cabrera JM, López-Doriga A, Munté E, De Cid R, Campos O, Cuesta R, Teulé Á, Grau È, Sanz J, Capellá G, Díez O, Brunet J, Balmaña J, Lázaro C. Rofes P, et al. Among authors: torres esquius s. Genes (Basel). 2021 Jan 23;12(2):150. doi: 10.3390/genes12020150. Genes (Basel). 2021. PMID: 33498765 Free PMC article.
17 results