1. Mechanisms of Therapy Resistance in Patient-Derived Xenograft Models of BRCA1-Deficient Breast Cancer.

    JNCI Journal of the National Cancer Institute 108(11) (2016) PMID 27381626

    Although BRCA1-deficient tumors are extremely sensitive to DNA-damaging drugs and poly(ADP-ribose) polymerase (PARP) inhibitors, recurrences do occur and, consequently, resistance to therapy remains a serious clinical problem. To study the underlying mechanisms, we induced therapy resistance in ...
  2. A Landscape of Pharmacogenomic Interactions in Cancer.

    Cell 166(3):740 (2016) PMID 27397505 PMCID PMC4967469

    Systematic studies of cancer genomes have provided unprecedented insights into the molecular nature of cancer. Using this information to guide the development and application of therapies in the clinic is challenging. Here, we report how cancer-driven alterations identified in 11,289 tumors from...
  3. 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...
  4. Arachidonic and oleic acid exert distinct effects on the DNA methylome.

    Epigenetics 11(5):321 (2016) PMID 27088456 PMCID PMC4889238

    Abnormal fatty acid metabolism and availability are landmarks of metabolic diseases, which in turn are associated with aberrant DNA methylation profiles. To understand the role of fatty acids in disease epigenetics, we sought DNA methylation profiles specifically induced by arachidonic (AA) or o...
  5. 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...
  6. Mutations in JMJD1C are involved in Rett syndrome and intellectual disability.

    Genetics in Medicine 18(4):378 (2016) PMID 26181491 PMCID PMC4823641

    Autism spectrum disorders are associated with defects in social response and communication that often occur in the context of intellectual disability. Rett syndrome is one example in which epilepsy, motor impairment, and motor disturbance may co-occur. Mutations in histone demethylases are known...
  7. Validation of a DNA methylation microarray for 850,000 CpG sites of the human genome enriched in enhancer sequences.

    Epigenomics 8(3):389 (2016) PMID 26673039 PMCID PMC4864062

    DNA methylation is the best known epigenetic mark. Cancer and other pathologies show an altered DNA methylome. However, delivering complete DNA methylation maps is compromised by the price and labor-intensive interpretation of single nucleotide methods. Following the success of the HumanMethylat...
  8. Cancer Stem-like Cells Act via Distinct Signaling Pathways in Promoting Late Stages of Malignant Progression.

    Cancer Research 76(5):1245 (2016) PMID 26719534

    Cancer stem-like cells (CSC) play key roles in long-term tumor propagation and metastasis, but their dynamics during disease progression are not understood. Tumor relapse in patients with initially excised skin squamous cell carcinomas (SCC) is characterized by increased metastatic potential, an...
  9. Transcriptomic profiling of urine extracellular vesicles reveals alterations of CDH3 in prostate cancer.

    Oncotarget 7(6):6835 (2016) PMID 26771841 PMCID PMC4872752

    Extracellular vesicles (EV) are emerging structures with promising properties for intercellular communication. In addition, the characterization of EV in biofluids is an attractive source of non-invasive diagnostic, prognostic and predictive biomarkers. Here we show that urinary EV (uEV) from pr...
  10. Study of breast cancer incidence in patients of lymphangioleiomyomatosis.

    Breast Cancer Research and Treatment 156(1):195 (2016) PMID 26951504 PMCID PMC4788694

    Molecular evidence has linked the pathophysiology of lymphangioleiomyomatosis (LAM) to that of metastatic breast cancer. Following on this observation, we assessed the association between LAM and subsequent breast cancer. An epidemiological study was carried out using three LAM country cohorts, ...
  11. Epigenetic inactivation of the putative DNA/RNA helicase SLFN11 in human cancer confers resistance to platinum drugs.

    Oncotarget 7(3):3084 (2016) PMID 26625211 PMCID PMC4823092

    Platinum-derived drugs such as cisplatin and carboplatin are among the most commonly used cancer chemotherapy drugs, but very few specific molecular and cellular markers predicting differential sensitivity to these agents in a given tumor type have been clearly identified. Epigenetic gene silenc...
  12. MiR-221 promotes stemness of breast cancer cells by targeting DNMT3b.

    Oncotarget 7(1):580 (2016) PMID 26556862 PMCID PMC4808019

    Cancer stem cells (CSCs) are a small part of the heterogeneous tumor cell population possessing self-renewal and multilineage differentiation potential as well as a great ability to sustain tumorigenesis. The molecular pathways underlying CSC phenotype are not yet well characterized. MicroRNAs (...
  13. IL-4 orchestrates STAT6-mediated DNA demethylation leading to dendritic cell differentiation.

    Genome Biology 17(1):4 (2016) PMID 26758199 PMCID PMC4711003

    The role of cytokines in establishing specific transcriptional programmes in innate immune cells has long been recognized. However, little is known about how these extracellular factors instruct innate immune cell epigenomes to engage specific differentiation states. Human monocytes differentiat...
  14. Epigenomic analysis detects aberrant super-enhancer DNA methylation in human cancer.

    Genome Biology 17(1):11 (2016) PMID 26813288 PMCID PMC4728783

    One of the hallmarks of cancer is the disruption of gene expression patterns. Many molecular lesions contribute to this phenotype, and the importance of aberrant DNA methylation profiles is increasingly recognized. Much of the research effort in this area has examined proximal promoter regions a...
  15. Associations between whole peripheral blood fatty acids and DNA methylation in humans.

    Scientific reports 6:25867 (2016) PMID 27181711 PMCID PMC4867649

    Fatty acids (FA) modify DNA methylation in vitro, but limited information is available on whether corresponding associations exist in vivo and reflect any short-term effect of the diet. Associations between global DNA methylation and FAs were sought in blood from lactating infants (LI; n = 49) a...
  16. lncRNAs and microRNAs with a role in cancer development.

    Biochimica et Biophysica Acta 1859(1):169 (2016) PMID 26149773

    Most diseases, including human cancer, are frequently associated with an altered transcription pattern. The alteration of the transcriptome is not restricted to the production of aberrant levels of protein-coding RNAs, but also refers to the dysregulation of the expression of the multiple noncod...
  17. 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...
  18. The Inescapable Influence of Noncoding RNAs in Cancer.

    Cancer Research 75(24):5206 (2015) PMID 26567137 PMCID PMC4823153

    This report summarizes information presented at the 2015 Keystone Symposium on "MicroRNAs and Noncoding RNAs in Cancer." Nearly two decades after the discovery of the first miRNA, the role of noncoding RNAs in developmental processes and the mechanisms behind their dysregulation in cancer has be...
  19. 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...
  20. Aberrant DNA methylation in non-small cell lung cancer-associated fibroblasts.

    Carcinogenesis 36(12):1453 (2015) PMID 26449251 PMCID PMC4662832

    Epigenetic changes through altered DNA methylation have been implicated in critical aspects of tumor progression, and have been extensively studied in a variety of cancer types. In contrast, our current knowledge of the aberrant genomic DNA methylation in tumor-associated fibroblasts (TAFs) or o...