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MLH1-methylated endometrial cancer under 60 years of age as the "sentinel" cancer in female carriers of high-risk constitutional MLH1 epimutation.
Hitchins MP, Alvarez R, Zhou L, Aguirre F, Dámaso E, Pineda M, Capella G, Wong JJ, Yuan X, Ryan SR, Sathe DS, Baxter MD, Cannon T, Biswas R, DeMarco T, Grzelak D, Hampel H, Pearlman R. Hitchins MP, et al. Among authors: damaso e. Gynecol Oncol. 2023 Apr;171:129-140. doi: 10.1016/j.ygyno.2023.02.017. Epub 2023 Mar 8. Gynecol Oncol. 2023. PMID: 36893489 Free PMC article.
Primary constitutional MLH1 epimutations: a focal epigenetic event.
Dámaso E, Castillejo A, Arias MDM, Canet-Hermida J, Navarro M, Del Valle J, Campos O, Fernández A, Marín F, Turchetti D, García-Díaz JD, Lázaro C, Genuardi M, Rueda D, Alonso Á, Soto JL, Hitchins M, Pineda M, Capellá G. Dámaso E, et al. Br J Cancer. 2018 Oct;119(8):978-987. doi: 10.1038/s41416-018-0019-8. Epub 2018 Oct 4. Br J Cancer. 2018. PMID: 30283143 Free PMC article.
Comprehensive Constitutional Genetic and Epigenetic Characterization of Lynch-Like Individuals.
Dámaso E, González-Acosta M, Vargas-Parra G, Navarro M, Balmaña J, Ramon Y Cajal T, Tuset N, Thompson BA, Marín F, Fernández A, Gómez C, Velasco À, Solanes A, Iglesias S, Urgel G, López C, Del Valle J, Campos O, Santacana M, Matias-Guiu X, Lázaro C, Valle L, Brunet J, Pineda M, Capellá G. Dámaso E, et al. Cancers (Basel). 2020 Jul 5;12(7):1799. doi: 10.3390/cancers12071799. Cancers (Basel). 2020. PMID: 32635641 Free PMC article.
Splicing analyses for variants in MMR genes: best practice recommendations from the European Mismatch Repair Working Group.
Morak M, Pineda M, Martins A, Gaildrat P, Tubeuf H, Drouet A, Gómez C, Dámaso E, Schaefer K, Steinke-Lange V, Koehler U, Laner A, Hauchard J, Chauris K, Holinski-Feder E, Capellá G. Morak M, et al. Among authors: damaso e. Eur J Hum Genet. 2022 Sep;30(9):1051-1059. doi: 10.1038/s41431-022-01106-w. Epub 2022 Jun 9. Eur J Hum Genet. 2022. PMID: 35676339 Free PMC article.
Co-occurrence of germline pathogenic variants for different hereditary cancer syndromes in patients with Lynch syndrome.
Ferrer-Avargues R, Castillejo MI, Dámaso E, Díez-Obrero V, Garrigos N, Molina T, Codoñer-Alejos A, Segura Á, Sánchez-Heras AB, Castillejo A, Soto JL. Ferrer-Avargues R, et al. Among authors: damaso e. Cancer Commun (Lond). 2021 Mar;41(3):218-228. doi: 10.1002/cac2.12134. Epub 2021 Feb 25. Cancer Commun (Lond). 2021. PMID: 33630411 Free PMC article.
Highly sensitive MLH1 methylation analysis in blood identifies a cancer patient with low-level mosaic MLH1 epimutation.
Dámaso E, Canet-Hermida J, Vargas-Parra G, Velasco À, Marín F, Darder E, Del Valle J, Fernández A, Izquierdo À, Mateu G, Oliveras G, Escribano C, Piñol V, Uchima HI, Soto JL, Hitchins M, Farrés R, Lázaro C, Queralt B, Brunet J, Capellá G, Pineda M. Dámaso E, et al. Clin Epigenetics. 2019 Nov 28;11(1):171. doi: 10.1186/s13148-019-0762-6. Clin Epigenetics. 2019. PMID: 31779681 Free PMC article.
Elucidating the molecular basis of MSH2-deficient tumors by combined germline and somatic analysis.
Vargas-Parra GM, González-Acosta M, Thompson BA, Gómez C, Fernández A, Dámaso E, Pons T, Morak M, Del Valle J, Iglesias S, Velasco À, Solanes A, Sanjuan X, Padilla N, de la Cruz X, Valencia A, Holinski-Feder E, Brunet J, Feliubadaló L, Lázaro C, Navarro M, Pineda M, Capellá G. Vargas-Parra GM, et al. Among authors: damaso e. Int J Cancer. 2017 Oct 1;141(7):1365-1380. doi: 10.1002/ijc.30820. Epub 2017 Jul 3. Int J Cancer. 2017. PMID: 28577310 Free article.
Genetic and clinical characterization of a novel FH founder mutation in families with hereditary leiomyomatosis and renal cell cancer syndrome.
Sánchez-Heras AB, Dámaso E, Castillejo A, Robledo M, Teulé A, Lázaro C, Sánchez-Martínez R, Zúñiga Á, López-Fernández A, Balmaña J, Robles L, Ramon Y Cajal T, Castillejo MI, Ibañez RP, Sevila CM, Sánchez-Mira A, Escandell I, Gómez L, Berbel P, Soto JL. Sánchez-Heras AB, et al. Among authors: damaso e. Orphanet J Rare Dis. 2024 Jan 26;19(1):26. doi: 10.1186/s13023-024-03017-z. Orphanet J Rare Dis. 2024. PMID: 38279137 Free PMC article.