Francesc Castro-Giner
A5071249648- Cancer Genomics and Diagnostics
- DNA Repair Mechanisms
- Cancer Treatment and Pharmacology
- Lung Cancer Treatments and Mutations
- Cancer Cells and Metastasis
- Asthma and respiratory diseases
- Epigenetics and DNA Methylation
- IL-33, ST2, and ILC Pathways
- Bone health and treatments
- Oral and Maxillofacial Pathology
- Genetic factors in colorectal cancer
- Pancreatic and Hepatic Oncology Research
- Air Quality and Health Impacts
- Molecular Biology Techniques and Applications
- Chronic Obstructive Pulmonary Disease (COPD) Research
- Single-cell and spatial transcriptomics
- Esophageal Cancer Research and Treatment
- T-cell and B-cell Immunology
- Eosinophilic Esophagitis
- Glutathione Transferases and Polymorphisms
- Allergic Rhinitis and Sensitization
- Esophageal and GI Pathology
- Dermatology and Skin Diseases
- CRISPR and Genetic Engineering
- Evolution and Genetic Dynamics
ETH Zurich
2016-2027
École Polytechnique Fédérale de Lausanne
2025
University Hospital of Basel
2018-2021
University of Basel
2018-2021
SIB Swiss Institute of Bioinformatics
2018-2021
University of Zurich
2017-2020
Hannover Re (Germany)
2020
Kingston Health Sciences Centre
2020
New York Proton Center
2020
Centre for Genomic Regulation
2015-2019
The ability of circulating tumor cells (CTCs) to form clusters has been linked increased metastatic potential. Yet biological features and vulnerabilities CTC remain largely unknown. Here, we profile the DNA methylation landscape single CTCs from breast cancer patients mouse models on a genome-wide scale. We find that binding sites for stemness- proliferation-associated transcription factors are specifically hypomethylated in clusters, including OCT4, NANOG, SOX2, SIN3A, paralleling...
Abstract Osteosarcomas are aggressive bone tumours with a high degree of genetic heterogeneity, which has historically complicated driver gene discovery. Here we sequence exomes 31 and decipher their evolutionary landscape by inferring clonality the individual mutation events. Exome findings interpreted in context SNP array data from replication set 92 tumours. We identify 14 genes as main drivers, some were formerly unknown osteosarcoma. None drivers is clearly responsible for majority even...
Abstract As whole-genome sequencing for cancer genome analysis becomes a clinical tool, full understanding of the variables affecting output is required. Here using tumour-normal sample pairs from two different types cancer, chronic lymphocytic leukaemia and medulloblastoma, we conduct benchmarking exercise within context International Cancer Genome Consortium. We compare methods, pipelines validation methods. show that PCR-free methods increasing depth to ∼100 × shows benefits, as long...
Circulating tumor cells (CTCs) are shed from solid cancers in the form of single or clustered cells, and latter display an extraordinary ability to initiate metastasis. Yet, biological phenomena that trigger shedding CTC clusters a primary cancerous lesion poorly understood. Here, when dynamically labeling breast cancer along progression, we observe majority undergoing hypoxia, while CTCs largely normoxic. Strikingly, find vascular endothelial growth factor (VEGF) targeting leads shrinkage,...
Abstract The presence of circulating tumor cell (CTC) clusters is associated with disease progression and reduced survival in a variety cancer types. In breast cancer, preclinical studies showed that inhibitors the Na + /K ATPase suppress CTC block metastasis. Here we conducted prospective, open-label, proof-of-concept study women metastatic where primary objective was to determine whether treatment inhibitor digoxin could reduce mean cluster size. An analysis nine patients treated daily...
Human glioblastoma (GBM) is a highly aggressive, invasive and hypervascularised malignant brain cancer. Individual circulating tumour cells (CTCs) are sporadically found in GBM patients, yet it unclear whether multicellular CTC clusters generated this disease they can bypass the physical hurdle of blood-brain barrier. Here, we assessed presence composition at multiple time points 13 patients with progressing during an open-label phase 1/2a study microtubule inhibitor BAL101553. We observe...
Abstract Papillary renal cell carcinoma (pRCC) is an important subtype of kidney cancer with a problematic pathological classification and highly variable clinical behaviour. Here we sequence the genomes or exomes 31 pRCCs, in four tumours, multi-region sequencing undertaken. We identify BAP1 , SETD2 ARID2 Nrf2 pathway genes ( KEAP1 NHE2L2 CUL3 ) as probable drivers, together at least eight other possible drivers. However, only ~10% tumours harbour detectable pathogenic changes any one...
Barrett's esophagus (BE) increases the risk of esophageal adenocarcinoma (EAC). We found to be BE has been associated with single nucleotide polymorphisms (SNPs) on chromosome 6p21 (within HLA region) and 16q23, where closest protein-coding gene is FOXF1. Subsequently, Esophageal Adenocarcinoma Consortium (BEACON) identified loci for near CRTC1 BARX1, within 100 kb FOXP1. aimed identify further SNPs that increased validate previously reported associations.
Abstract Circulating tumour cell (CTC) clusters have been proposed to be major players in the metastatic spread of breast cancer, particularly during advanced disease stages. Yet, it is unclear whether or not they manifest early as their occurrence patients with metastasis-free primary has thoroughly evaluated. In this study, exploiting nanostructured titanium oxide-coated slides for shear-free CTC identification, we detect clustered CTCs curative setting multiple cancer prior surgical...
Traffic-related air pollution is related with asthma, and this association may be modified by genetic factors.We investigated the role of polymorphisms potentially modifying between home outdoor levels modeled nitrogen dioxide asthma.Adults from 13 cities second European Community Respiratory Health Survey (ECRHS II) were included (n = 2,920), for whom both DNA NO(2) estimates available. Home addresses geocoded linked to estimates, as a marker local traffic-related pollution. We examined...
Abstract How chemotherapy affects carcinoma genomes is largely unknown. Here we report whole-exome and deep sequencing of 30 paired oesophageal adenocarcinomas sampled before after neo-adjuvant chemotherapy. Most, but not all, good responders pass through genetic bottlenecks, a feature associated with higher mutation burden pre-treatment. Some poor re-grow by the time surgical resection, suggesting missed therapeutic opportunity. Cancers often show major changes in driver presence or...