Publicaciones (11) Publicaciones de ESTELA DAMASO RIQUELME

2024

  1. Genetic and clinical characterization of a novel FH founder mutation in families with hereditary leiomyomatosis and renal cell cancer syndrome

    Orphanet Journal of Rare Diseases, Vol. 19, Núm. 1

  2. SpadaHC: a database to improve the classification of variants in hereditary cancer genes in the Spanish population

    Database : the journal of biological databases and curation, Vol. 2024

2023

  1. Constitutional MLH1 Methylation Is a Major Contributor to Mismatch Repair-Deficient, MLH1-Methylated Colorectal Cancer in Patients Aged 55 Years and Younger

    Journal of the National Comprehensive Cancer Network : JNCCN, Vol. 21, Núm. 7, pp. 743-752

  2. MLH1-methylated endometrial cancer under 60 years of age as the “sentinel” cancer in female carriers of high-risk constitutional MLH1 epimutation

    Gynecologic Oncology, Vol. 171, pp. 129-140

2022

  1. Splicing analyses for variants in MMR genes: best practice recommendations from the European Mismatch Repair Working Group

    European Journal of Human Genetics, Vol. 30, Núm. 9, pp. 1051-1059

2021

  1. Co-occurrence of germline pathogenic variants for different hereditary cancer syndromes in patients with Lynch syndrome

    Cancer Communications, Vol. 41, Núm. 3, pp. 218-228

  2. The challenge of diagnosing constitutional mismatch repair deficiency syndrome in brain malignancies from young individuals

    International Journal of Molecular Sciences, Vol. 22, Núm. 9

2020

  1. Comprehensive constitutional genetic and epigenetic characterization of lynch-like individuals

    Cancers, Vol. 12, Núm. 7, pp. 1-32

2019

  1. Highly sensitive MLH1 methylation analysis in blood identifies a cancer patient with low-level mosaic MLH1 epimutation

    Clinical Epigenetics, Vol. 11, Núm. 1

2018

  1. Primary constitutional MLH1 epimutations: a focal epigenetic event

    British Journal of Cancer, Vol. 119, Núm. 8, pp. 978-987

2017

  1. Elucidating the molecular basis of MSH2-deficient tumors by combined germline and somatic analysis

    International Journal of Cancer, Vol. 141, Núm. 7, pp. 1365-1380