A5036285079- Cancer Genomics and Diagnostics
- Endometrial and Cervical Cancer Treatments
- BRCA gene mutations in cancer
- Protein Degradation and Inhibitors
- Multiple Myeloma Research and Treatments
- Ovarian cancer diagnosis and treatment
- Chronic Myeloid Leukemia Treatments
- Breast Cancer Treatment Studies
- Cancer and Skin Lesions
- Sarcoma Diagnosis and Treatment
- Chronic Lymphocytic Leukemia Research
- Breast Lesions and Carcinomas
- Genetic factors in colorectal cancer
- Lymphoma Diagnosis and Treatment
- Lung Cancer Treatments and Mutations
- Cancer Cells and Metastasis
- Acute Lymphoblastic Leukemia research
- Genetics and Neurodevelopmental Disorders
- Pancreatic function and diabetes
- Genomics and Phylogenetic Studies
- Peptidase Inhibition and Analysis
- Genomic variations and chromosomal abnormalities
- RNA modifications and cancer
- Genetic Associations and Epidemiology
- Gene expression and cancer classification
Spanish National Cancer Research Centre
2007-2025
Centro de Investigación Biomédica en Red de Cáncer
2014-2024
Research Institute Hospital 12 de Octubre
2022-2024
Centro de Investigación del Cáncer
2023-2024
Hospital Universitario 12 De Octubre
2023
Hospital Universitario Ramón y Cajal
2013-2022
Instituto Ramón y Cajal de Investigación Sanitaria
2016-2022
Instituto de Salud Carlos III
2017-2020
Instituto Cajal
2019-2020
Red Temática de Investigación Cooperativa en Cáncer
2014-2017
The identification of the two most prevalent susceptibility genes in breast cancer, BRCA1 and BRCA2, was beginning a sustained effort to uncover new explaining missing heritability this disease. Today, additional high, moderate low penetrance have been identified such as P53, PTEN, STK11, PALB2 or ATM, globally accounting for around 35 percent familial cases. In present study we used massively parallel sequencing analyze 7 BRCA1/BRCA2 negative families, each having at least 6 affected women...
Mismatch repair deficiency (MMRD) is involved in the initiation of both hereditary and sporadic tumors. MMRD has been extensively studied colorectal cancer endometrial cancer, but not so other tumors, such as ovarian carcinoma. We have determined expression mismatch proteins a large cohort 502 early-stage epithelial carcinoma entailing all 5 main subtypes: high-grade serous carcinoma, endometrioid (EOC), clear cell (CCC), mucinous low-grade association with clinicopathologic...
Although it is becoming clear that certain miRNAs fulfil a fundamental role in the regulation of epithelial-to-mesenchymal transition (EMT), comprehensive study associated with this process has yet to be performed. Here, we profiled signature miRNA expression an vitro model EMT, ectopically expressing MDCK cells one seven EMT transcription factors (SNAI1, SNAI2, ZEB1, ZEB2, TWIST1, TWIST2 or E47) inducer LOXL2. In way, identified core subset deregulated were further validated vivo, studying...
Vestigial-like 1 ( VGLL1 ) is a poorly characterized gene encoding transcriptional co-activator structurally homologous to TAZ and YAP that modulates the Hippo pathway in Drosophila . In this study, we examined expression of its intronic miRNA, miR-934, breast cancer. miR-934 miRNA profiling was carried out on frozen samples grade 3 invasive ductal carcinomas. protein also 433 sporadic BRCA1 -associated carcinomas tissue microarrays. RNA-seq data from The Cancer Genome Atlas (TCGA) used...
Background: Characterisation of molecular alterations pleomorphic lobular carcinoma (PLC), an aggressive subtype invasive (ILC), have not been yet completely accomplished. Methods: To investigate the with features, a total 39 tumour samples (in situ and lesions lymph node metastases) from 27 patients nuclear grade 3 carcinomas were subjected to morphological, immunohistochemical massive parallel sequencing analyses. Results: Our observations indicated that features morphologically...
Endometrioid ovarian carcinoma (EOC) has clinical and biological differences compared with other histologic types of carcinomas, but it shares morphologic molecular features endometrioid endometrial carcinoma. To analyze the heterogeneity EOC according to new classification cancer evaluate prognostic significance this classification, we have analyzed 166 early-stage by immunohistochemistry for mismatch repair proteins p53 expression, Sanger sequencing exonuclease domain polymerase epsilon (...
Abstract Targeted immunotherapies against B-cell maturation antigen (BCMA) have transformed the treatment landscape of Multiple Myeloma (MM). Fc receptor-like 5 (FCRL5) has emerged as an alternative target. However, resistance frequently emerges within months, posing a significant clinical challenge. Structural alterations and mutations in BCMA only account for minority cases insights into escape remain largely unknown. This study investigates novel (epi)genetic mechanisms through...
The frequency and prognostic significance of the histologic type in early-stage ovarian cancer (OC) is not as well established advanced stages. In addition, typing based only on morphologic features may be difficult, especially high-grade tumors. this study, we have analyzed a prospective cohort 502 OCs to investigate their frequency, immunohistochemical characteristics, survival 5 main types. Histotype was assigned according but also expression pattern WT1, p53, Napsin A, progesterone...
Next generation DNA sequencing (NGS) technologies have revolutionized the pace at which whole genome and exome sequences can be generated. However, despite these advances, many of methods for targeted resequencing, such as high-depth sequences, are somewhat limited by relatively large amounts starting that normally required. In case tumour analysis this is particularly pertinent biopsies often return submicrogram quantities DNA, especially when tumours microdissected prior to analysis. Here,...
The recent development of new high-throughput technologies for SNP genotyping has opened the possibility taking a genome-wide linkage approach to search candidate genes involved in heredity diseases. two major breast cancer susceptibility BRCA1 and BRCA2 are 30% hereditary cases, but discovery additional predisposition non-BRCA1/2 families so far been unsuccessful. In order evaluate power improvement provided by using markers real situation, we have performed whole genome screen 19 4720...
Abstract The screening of the BCR::ABL1 kinase domain (KD) mutation has become a routine analysis in case warning/failure for chronic myeloid leukemia (CML) and B-cell precursor acute lymphoblastic (ALL) Philadelphia (Ph)-positive patients. In this study, we present novel DNA-based next-generation sequencing (NGS) methodology KD ABL1 detection monitoring with 1.0E−4 sensitivity. This approach was validated well-stablished RNA-based nested NGS method. correlation both techniques...
The relationship between the ductal and lobular components of invasive ductolobular carcinomas (IDLC) has not been fully elucidated. In this study, molecular alterations both were analyzed in a series 20 IDLC that selected, only by morphologic criteria, but also loss E-cadherin expression component. We found 80% tumors shared driver genes components, being PIK3CA most common alteration. addition, 45% carried CDH1 mutations their component absent Fluorescent situ hybridization analysis gene...
Background The classical candidate-gene approach has failed to identify novel breast cancer susceptibility genes. Nowadays, massive parallel sequencing technology allows the development of studies unaffordable a few years ago. However, analysis protocols are not yet sufficiently developed extract all information from huge amount data obtained. Methodology/Principal Findings In this study, we performed high throughput in two regions located on chromosomes 3 and 6, recently identified by...