1. A Novel Epigenetic Signature for Early Diagnosis in Lung Cancer.

    Clinical Cancer Research 22(13):3361 (2016) PMID 26842235

    Lung cancer remains as the leading cause of cancer-related death worldwide, mainly due to late diagnosis. Cytology is the gold-standard method for lung cancer diagnosis in minimally invasive respiratory samples, despite its low sensitivity. We aimed to identify epigenetic biomarkers with clinica...
  2. Epigenetic alterations leading to TMPRSS4 promoter hypomethylation and protein overexpression predict poor prognosis in squamous lung cancer patients.

    Oncotarget 7(16):22752 (2016) PMID 26989022

    Non-small cell lung cancer (NSCLC) is the leading cause of cancer-related death worldwide, which highlights the need of innovative therapeutic options. Although targeted therapies can be successfully used in a subset of patients with lung adenocarcinomas (ADC), they are not appropriate for patie...
  3. MiR-204 silencing in intraepithelial to invasive cutaneous squamous cell carcinoma progression.

    Molecular Cancer 15(1):53 (2016) PMID 27457246 PMCID PMC4960761

    Cutaneous squamous cell carcinoma (cSCC) is the second most common skin cancer and frequently progresses from an actinic keratosis (AK), a sun-induced keratinocyte intraepithelial neoplasia (KIN). Epigenetic mechanisms involved in the phenomenon of progression from AK to cSCC remain to be elicit...
  4. Notch1 Pathway Activation Results from the Epigenetic Abrogation of Notch-Related MicroRNAs in Mycosis Fungoides.

    Journal of Investigative Dermatology 135(12):3144 (2015) PMID 26302069

    Notch is a family of transmembrane receptors that participate in the regulation of cell differentiation, proliferation, and stemness. Notch pathway activation has also been found associated with different human cancers including primary cutaneous T-cell lymphomas (CTCL). The elucidation of the m...
  5. Identification of HERC5 and its potential role in NSCLC progression.

    International Journal of Cancer 136(10):2264 (2015) PMID 25353388

    For better lung cancer diagnosis and therapy, early detection markers of tumor dissemination are urgently needed, as most lung cancers do not show symptoms until extensive metastasis formation has already taken place. Our previous studies showed that in non-small cell lung cancer (NSCLC) early t...
  6. MicroRNA expression profiling and DNA methylation signature for deregulated microRNA in cutaneous T-cell lymphoma.

    Journal of Investigative Dermatology 135(4):1128 (2015) PMID 25405321

    MicroRNAs usually regulate gene expression negatively, and aberrant expression has been involved in the development of several types of cancers. Microarray profiling of microRNA expression was performed to define a microRNA signature in a series of mycosis fungoides tumor stage (MFt, n=21) and C...
  7. A DNA methylation-based definition of biologically distinct breast cancer subtypes.

    Molecular Oncology 9(3):555 (2015) PMID 25468711

    In cancer, epigenetic states are deregulated and thought to be of significance in cancer development and progression. We explored DNA methylation-based signatures in association with breast cancer subtypes to assess their impact on clinical presentation and patient prognosis. DNA methylation was...
  8. Epigenetic crosstalk: a molecular language in human metabolic disorders.

    Frontiers in bioscience (scholar edition) 7:46 (2015) PMID 25961686

    Technological breakthroughs are emphasizing the impact of epigenetic mechanisms in human health highlighting the importance of a fine-tune orchestration of DNA methylation, micro RNAs, histone modifications, and chromatin structure. Transcriptional regulators sense the concentration of intermedi...
  9. Putative cis-regulatory drivers in colorectal cancer.

    Nature 512(7512):87 (2014) PMID 25079323

    The cis-regulatory effects responsible for cancer development have not been as extensively studied as the perturbations of the protein coding genome in tumorigenesis. To better characterize colorectal cancer (CRC) development we conducted an RNA-sequencing experiment of 103 matched tumour and no...
  10. Epigenetic regulation of vitamin D metabolism in human lung adenocarcinoma.

    Journal of Thoracic Oncology 9(4):473 (2014) PMID 24736069 PMCID PMC3994461

    1α,25-Dihydroxyvitamin D3 (1,25-D3) is antiproliferative in preclinical models of lung cancer, but in tumor tissues, its efficacy may be limited by CYP24A1 expression. CYP24A1 is the rate limiting catabolic enzyme for 1,25-D3 and is overexpressed in human lung adenocarcinoma (AC) by unknown mech...
  11. A DERL3-associated defect in the degradation of SLC2A1 mediates the Warburg effect.

    Nature Communications 5:3608 (2014) PMID 24699711 PMCID PMC3988805

    Cancer cells possess aberrant proteomes that can arise by the disruption of genes involved in physiological protein degradation. Here we demonstrate the presence of promoter CpG island hypermethylation-linked inactivation of DERL3 (Derlin-3), a key gene in the endoplasmic reticulum-associated pr...
  12. The PEG13-DMR and brain-specific enhancers dictate imprinted expression within the 8q24 intellectual disability risk locus.

    Epigenetics & Chromatin 7(1):5 (2014) PMID 24667089 PMCID PMC3986935

    Genomic imprinting is the epigenetic marking of genes that results in parent-of-origin monoallelic expression. Most imprinted domains are associated with differentially DNA methylated regions (DMRs) that originate in the gametes, and are maintained in somatic tissues after fertilization. This al...
  13. Hypermethylation of the alternative AWT1 promoter in hematological malignancies is a highly specific marker for acute myeloid leukemias despite high expression levels.

    Journal of Hematology & Oncology 7(1):4 (2014) PMID 24405639 PMCID PMC3900738

    Wilms tumor 1 (WT1) is over-expressed in numerous cancers with respect to normal cells, and has either a tumor suppressor or oncogenic role depending on cellular context. This gene is associated with numerous alternatively spliced transcripts, which initiate from two different unique first exons...
  14. A prognostic DNA methylation signature for stage I non-small-cell lung cancer.

    Journal of Clinical Oncology 31(32):4140 (2013) PMID 24081945

    Non-small-cell lung cancer (NSCLC) is a tumor in which only small improvements in clinical outcome have been achieved. The issue is critical for stage I patients for whom there are no available biomarkers that indicate which high-risk patients should receive adjuvant chemotherapy. We aimed to fi...
  15. DNA methylation contributes to natural human variation.

    Genome Research 23(9):1363 (2013) PMID 23908385 PMCID PMC3759714

    DNA methylation patterns are important for establishing cell, tissue, and organism phenotypes, but little is known about their contribution to natural human variation. To determine their contribution to variability, we have generated genome-scale DNA methylation profiles of three human populatio...
  16. Primary cutaneous marginal zone B-cell lymphoma: response to treatment and disease-free survival in a series of 137 patients.

    Journal of the American Academy of Dermatology 69(3):357 (2013) PMID 23796549

    Primary cutaneous marginal zone B-cell lymphomas are low-grade lymphomas running an indolent course. Skin relapses have been frequently reported but little information about disease-free survival (DFS) is available. We sought to evaluate relapse rate and DFS in patients with primary cutaneous ma...
  17. Dysregulation of the long non-coding RNA transcriptome in a Rett syndrome mouse model.

    RNA Biology 10(7):1197 (2013) PMID 23611944 PMCID PMC3849168

    Mecp2 is a transcriptional repressor protein that is mutated in Rett syndrome, a neurodevelopmental disorder that is the second most common cause of mental retardation in women. It has been shown that the loss of the Mecp2 protein in Rett syndrome cells alters the transcriptional silencing of co...
  18. Epigenetic biomarkers in laboratory diagnostics: emerging approaches and opportunities.

    Expert Review of Molecular Diagnostics 13(5):457 (2013) PMID 23782253

    Epigenetics has emerged as a new and promising field in recent years. Lifestyle, stress, drugs, physiopathological situations and pharmacological interventions have a great impact on the epigenetic code of the cells by altering the methylome, miRNA expression and the covalent histone modificatio...
  19. Non-CpG island promoter hypomethylation and miR-149 regulate the expression of SRPX2 in colorectal cancer.

    International Journal of Cancer 132(10):2303 (2013) PMID 23115050

    Gene silencing by DNA hypermethylation of CpG islands is a well-characterized phenomenon in cancer. The effect of hypomethylation in particular of non-CpG island genes is much less well described. By genome-wide screening, we identified 105 genes in microsatellite stable (MSS) colorectal adenoca...
  20. Genome-wide DNA methylation profiling predicts relapse in childhood B-cell acute lymphoblastic leukaemia.

    British Journal of Haematology 160(3):406 (2013) PMID 23110451 PMCID PMC3568176