A5034595052- Cancer Genomics and Diagnostics
- Cancer Treatment and Pharmacology
- Breast Cancer Treatment Studies
- Male Breast Health Studies
- HER2/EGFR in Cancer Research
- BRCA gene mutations in cancer
- Genetic factors in colorectal cancer
- Molecular Biology Techniques and Applications
- Genomic variations and chromosomal abnormalities
- Advanced Breast Cancer Therapies
- Epigenetics and DNA Methylation
- Monoclonal and Polyclonal Antibodies Research
- Genomics and Rare Diseases
- Esophageal Cancer Research and Treatment
- Single-cell and spatial transcriptomics
- Lymphoma Diagnosis and Treatment
- Cytokine Signaling Pathways and Interactions
- Melanoma and MAPK Pathways
- Cancer and Skin Lesions
- Genomics and Phylogenetic Studies
- Breast Lesions and Carcinomas
- RNA modifications and cancer
- Wnt/β-catenin signaling in development and cancer
University of Cambridge
2020-2023
Cancer Research UK Cambridge Center
2023
Universidad de Málaga
2016-2022
Instituto de Investigación Biomédica de Málaga
2014-2022
Cancer Research UK
2019-2020
Hospital Clínico Universitario Virgen de la Victoria
2013-2019
Centro de Investigación Biomédica en Red de Cáncer
2019
GEICAM – Spanish Breast Cancer Group
2019
Hospital Clínico Universitario de Valencia
2019
Hospital Virgen de la Salud
2019
Triple negative breast cancer (TNBC) is a heterogeneous disease with distinct molecular subtypes that differentially respond to chemotherapy and targeted agents. The purpose of this study explore the clinical relevance Lehmann TNBC by identifying any differences in response neoadjuvant among them. We determined gene expression profiling paraffined pre-treatment tumor biopsies from 125 patients treated anthracyclines and/or taxanes +/- carboplatin. explored clinicopathological characteristics...
Integration of variant reads across patient-specific mutation loci enables sensitive ctDNA quantification in plasma cell-free DNA sequencing data.
Abstract Analysis of circulating tumor DNA (ctDNA) to monitor cancer dynamics and detect minimal residual disease has been an area increasing interest. Multiple methods have proposed but few studies compared the performance different approaches. Here, we compare detection ctDNA in serial plasma samples from patients with breast using tumor‐informed tumor‐naïve assays designed structural variants (SVs), single nucleotide (SNVs), and/or somatic copy‐number aberrations, by multiplex PCR, hybrid...
Pathology archives with linked clinical data are an invaluable resource for translational research, the limitation that most cancer samples formalin-fixed paraffin-embedded (FFPE) tissues. Therefore, FFPE tissues important genomic profiling studies but under-utilised due to low amount and quality of extracted nucleic acids. We profiled copy number landscape 356 breast patients using DNA by shallow whole genome sequencing. generated a total 491 sequencing libraries from 2 kits obtained 98.4%...
Abstract Background: The role of the HER2-enriched (HER2E) subtype determined by Prosigna Assay in neoadjuvant setting has remained largely uncharacterized. In this study, we examine whether can identify a subgroup HER2+ patients for whom combination therapy that includes trastuzumab (Herceptin) is associated with greater likelihood pathological complete response (pCR). Methods: single-arm retrospective analysis, 75 to be IHC were treated regimen (NAC) consisting 8-12 cycles anthracyclines...
1024 Background: Triple negative breast cancer (TNBC) is a heterogeneous disease with distinct molecular subtypes that differentially respond to chemotherapy (CHT) and targeted agents. In recent study, Lehmann et al. (JCI 2011) identified six of TNBC, characterized on the basis gene ontologies differential expression. However, their clinical utility remains unclear. We aimed explore relevance these in TNBC determining differences response neoadjuvant randomized phase II trial, GEICAM/...
1585 Background: Male breast cancer (MBC) is a rare disease that still poorly understood. It mainly classified by immunohistochemistry (IHQ) as luminal disease. In this study, we use for the first time PAM50 signature to unravel molecular genetic heterogeneity in MBC. Methods: We collected surgical specimens of invasive MBC from four different Spanish pathology laboratories. IHQ staining estrogen receptor (ER), progesterone (PR), androgen (AR), human epidermal growth factor 2 (HER2),...
e21052 Background: Non immediate allergic reactions (niAR) related with oncology drugs are a rare entity. Usually, it is called Drug Reaction eosinophilia and sistemic symptoms (“DRESS”), occurring at first ten days of treatment.Recently, the treatment metastatic melanoma (MM) has included new in patients wtih BRAF V600E mutation. Despite skin usual, niAR to these have not been reported. We present 2 clinical cases mm treated BRAFi, developing such niAR. Methods: Patient 1: 47yo female lymph...
// Ángela Santonja 1 , 2 * Aurelio A. Moya-García 3 Nuria Ribelles 4 5 Begoña Jiménez-Rodríguez Bella Pajares Cristina E. Fernández-De Sousa Elísabeth Pérez-Ruiz 6 María del Monte-Millán 7 Manuel Ruiz-Borrego 8 Juan de la Haba 9 Pedro Sánchez-Rovira 10 Atocha Romero 11 Anna González-Neira 12 Ana Lluch 13 14 and Emilio Alba Instituto Investigación Biomédica Málaga (IBIMA), Hospitales...
569 Background: Pathological complete response following NAC is associated with improved survival. CESP a novel algorithm derived from the GEICAM 2006-03 clinical trial which based on association of treatment correlation to each PAM50 subtype centroid. has been validated in two datasets consisting patients HR+/HER2- disease treated either or neoadjuvant endocrine therapy (unpublished data). Here, we examined whether score chemosensitivity another independent dataset. Methods: 216...
Abstract Background Copy Number Alterations (CNAs) represent changes in the copy number of genomic segments somatic cells due to chromosomal instability. CNAs include gene amplifications or deletions and can be involved tumorigenesis. We analyzed data pre- post-treatment (ttm) tumors from patients (pts) with early breast cancer (BC) neoadjuvant trials GEICAM/2006-03 GEICAM/2006-14, aim identify particular regions (genetic entropy) associated treatment response. Methods (NCT00432172)...