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International Journal of Molecular Sciences|April 30, 2021
The Challenge of Diagnosing Constitutional Mismatch Repair Deficiency Syndrome in Brain Malignancies from Young IndividualsCristina Carrato, Carolina Sanz, Ana María Muñoz-Mármol, et al.
Journal of the National Comprehensive Cancer Network : JNCCN|July 11, 2023
Constitutional MLH1 Methylation Is a Major Contributor to Mismatch Repair-Deficient, MLH1-Methylated Colorectal Cancer in Patients Aged 55 Years and YoungerMegan P Hitchins, Estela Dámaso, Rocio Alvarez, et al.
Cancer Communications (London, England)|February 25, 2021
Co-occurrence of germline pathogenic variants for different hereditary cancer syndromes in patients with Lynch syndromeRosario Ferrer-Avargues, María Isabel Castillejo, Estela Dámaso, et al.
European Journal of Human Genetics : EJHG|June 8, 2022
Splicing analyses for variants in MMR genes: best practice recommendations from the European Mismatch Repair Working GroupMonika Morak, Marta Pineda, Alexandra Martins, et al.
Clinical Epigenetics|December 31, 2024
Altered chromatin landscape and 3D interactions associated with primary constitutional MLH1 epimutationsPaula Climent-Cantó, Marc Subirana-Granés, Mireia Ramos-Rodríguez, et al.
Gynecologic Oncology|March 9, 2023
MLH1-methylated endometrial cancer under 60 years of age as the "sentinel" cancer in female carriers of high-risk constitutional MLH1 epimutationMegan P Hitchins, Rocio Alvarez, Lisa Zhou, et al.
British Journal of Cancer|October 5, 2018
Primary constitutional MLH1 epimutations: a focal epigenetic eventEstela Dámaso, Adela Castillejo, María Del Mar Arias, et al.
Clinical Epigenetics|November 30, 2019
Highly sensitive MLH1 methylation analysis in blood identifies a cancer patient with low-level mosaic MLH1 epimutationEstela Dámaso, Júlia Canet-Hermida, Gardenia Vargas-Parra, et al.
Orphanet Journal of Rare Diseases|January 26, 2024
Genetic and clinical characterization of a novel FH founder mutation in families with hereditary leiomyomatosis and renal cell cancer syndromeAna Beatriz Sánchez-Heras, Estela Dámaso, Adela Castillejo, et al.
International Journal of Cancer|June 4, 2017
Elucidating the molecular basis of MSH2-deficient tumors by combined germline and somatic analysisGardenia M Vargas-Parra, Maribel González-Acosta, Bryony A Thompson, et al.
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