Roberta Fasani
A5042601272- Cancer Genomics and Diagnostics
- Cancer Immunotherapy and Biomarkers
- Mitochondrial Function and Pathology
- Cancer, Hypoxia, and Metabolism
- HER2/EGFR in Cancer Research
- Radiomics and Machine Learning in Medical Imaging
- Monoclonal and Polyclonal Antibodies Research
- Lung Cancer Treatments and Mutations
- High Altitude and Hypoxia
- Advanced Breast Cancer Therapies
- Colorectal Cancer Treatments and Studies
- Ovarian cancer diagnosis and treatment
- Cancer Cells and Metastasis
- CAR-T cell therapy research
- Breast Cancer Treatment Studies
- PARP inhibition in cancer therapy
- Lymphoma Diagnosis and Treatment
- Ferroptosis and cancer prognosis
- Atherosclerosis and Cardiovascular Diseases
- Helicobacter pylori-related gastroenterology studies
- Chronic Lymphocytic Leukemia Research
- Viral Infections and Immunology Research
- Genetic factors in colorectal cancer
- Sarcoma Diagnosis and Treatment
- Transplantation: Methods and Outcomes
Vall d'Hebron Institute of Oncology
2016-2025
Vall d'Hebron Hospital Universitari
2018-2025
European Institute of Oncology
2003-2023
Molecular Oncology (United States)
2017-2023
Hebron University
2023
Hospital Clínic de Barcelona
2017-2019
Institut Català d'Oncologia
2018-2019
Hospital Clínico Universitario de Valencia
2018-2019
Hospital Universitario Ramón y Cajal
2019
Hospital Son Llatzer
2019
Bacteria go the distance in cancer The bacterial species Fusobacterium nucleatum is associated with a subset of human colorectal cancers, but its role tumorigenesis unclear. Studying patient samples, Bullman et al. found that F. and certain co-occurring bacteria were present not only primary tumors also distant metastases. Preliminary evidence suggests bacterium localized primarily within metastatic cells rather than stroma. Antibiotic treatment mice carrying xenografts –positive slowed...
Novel antibody-drug conjugates against HER2 are showing high activity in HER2-negative breast cancer (BC) with low expression (i.e., 1+ or 2+ and lack of ERBB2 amplification). However, the clinical molecular features HER2-low BC yet to be elucidated. Here, we collected retrospective clinicopathological PAM50 data from 3,689 patients disease made following observations. First, proportion was higher HR-positive (65.4%) than triple-negative (TNBC, 36.6%). Second, within disease, luminal-related...
BackgroundBRCA1 and BRCA2 (BRCA1/2)-deficient tumors display impaired homologous recombination repair (HRR) enhanced sensitivity to DNA damaging agents or poly(ADP-ribose) polymerase (PARP) inhibitors (PARPi). Their efficacy in germline BRCA1/2 (gBRCA1/2)-mutated metastatic breast cancers has been recently confirmed clinical trials. Numerous mechanisms of PARPi resistance have described, whose relevance gBRCA-mutated cancer is unknown. This highlights the need identify functional biomarkers...
Circulating tumor DNA (ctDNA) is a potential source for genome analysis. We explored the concordance between mutational status of RAS in tissue and ctDNA metastatic colorectal cancer (mCRC) patients to establish eligibility anti-epidermal growth factor receptor (EGFR) therapy.A prospective-retrospective cohort study was carried out. Tumor from 146 mCRC tested with standard care (SoC) PCR techniques, Digital (BEAMing) used both plasma tissue.ctDNA BEAMing testing showed 89.7% agreement SoC...
Abstract Anti-BRAF/EGFR therapy was recently approved for the treatment of metastatic BRAF V600E colorectal cancer (mCRC BRAF-V600E ). However, a large fraction patients do not respond, underscoring need to identify molecular determinants response. Using whole-exome sequencing in discovery cohort with mCRC treated anti-BRAF/EGFR therapy, we found that inactivating mutations RNF43 , negative regulator WNT, predict improved response rates and survival outcomes microsatellite-stable (MSS)...
Mitochondrial (mt)DNA defects, both deletions and tRNA point mutations, have been associated with cardiomyopathies. The aim of the study was to determine prevalence pathological mtDNA mutations assess defects mitochondrial enzyme activity in dilated cardiomyopathy (DCM) patients ultrastructural abnormalities cardiac mitochondria. In a large cohort 601 DCM we performed conventional light electron microscopy on endomyocardial biopsy samples. Cases giant organelles, angulated, tubular,...
Abstract Background Identification of HER2-positive breast cancers with high anti-HER2 sensitivity could help de-escalate chemotherapy. Here, we tested a clinically applicable RNA-based assay that combines ERBB2 and the HER2-enriched (HER2-E) intrinsic subtype in disease treated dual HER2-blockade without Methods A research-based PAM50 was applied 422 tumors from five II–III clinical trials (SOLTI-PAMELA, TBCRC023, TBCRC006, PER-ELISA, EGF104090). In SOLTI-PAMELA, all patients had early were...
Accumulating evidence has identified Fusobacterium as an important pathogenic gut bacterium associated with colorectal cancer. Nevertheless, only limited data exist about the role of this in locally advanced rectal cancer (LARC). In study, we quantified nucleatum untreated and post-neoadjuvant chemoradiotherapy (nCRT) samples from LARC patients investigated its association therapy response survival.
Background Reliable predictive imaging markers of response to immune checkpoint inhibitors are needed. Purpose To develop and validate a pretreatment CT-based radiomics signature predict in advanced solid tumors. Materials Methods In this retrospective study, was developed patients with tumors (including breast, cervix, gastrointestinal) treated anti-programmed cell death-1 or programmed death ligand-1 monotherapy from August 2012 May 2018 (cohort 1). This tested bladder lung cancer (cohorts...
Metastatic colorectal cancer (mCRC) patients tend to have modest benefits from molecularly driven therapeutics. Patient-derived tumor organoids (PDTOs) represent an unmatched model elucidate resistance therapy, due their high capacity resemble characteristics.We used viable tissue two cohorts of with mCRC, naïve or refractory treatment, respectively, for generating PDTOs. The derived models were subjected a 6-day drug screening assay (DSA) comprehensive pipeline chemotherapy and targeted...
Abstract This study explores parallels between systemic hypoxia adaptation in high-altitude populations and tumorigenesis. We identified EPAS1, a gene critical for such as Tibetans Sherpas, playing similar adaptive role tumors arising under hypoxic conditions. Tumors from patients with chronic displayed impaired DNA repair frequent emergence of EPAS1 variants, frequencies reaching up to 90%, echoing the positive selection seen dwellers. Mechanistically, gain-of-function mutations promote...
T cell bispecific antibodies against an isoform of HER2 effectively target many HER2-expressing tumors but not normal tissues.
Abstract Despite their recognised role in HER2-positive (HER2+) breast cancer (BC), the composition, localisation and functional orientation of immune cells within tumour microenvironment, as well its dynamics during anti-HER2 treatment, is largely unknown. We here investigate changes tumour-immune contexture, assessed by stromal tumour-infiltrating lymphocytes (sTILs) multiplexed spatial cellular phenotyping, treatment with lapatinib-trastuzumab HER2+ BC patients (PAMELA trial). Moreover,...
Abstract Epithelial ovarian carcinoma (EOC) arises from the surface epithelium (OSE), a monolayer of poorly differentiated epithelial cells that lines ovary. The molecular mechanisms underlying EOC invasion into surrounding stroma and dissemination to peritoneum retroperitoneal lymph nodes are still unclear. Here, we analyzed expression functional role cell adhesion molecule L1 during development. In patient-derived samples, was expressed both in OSE subset EOC, latter being mostly...
Third-generation epidermal growth factor receptor tyrosine kinase inhibitors (EGFR-TKIs) such as osimertinib are the last line of targeted treatment metastatic non-small-cell lung cancer (NSCLC) EGFR-mutant harboring T790M. Different mechanisms acquired resistance to third-generation EGFR-TKIs have been proposed. It is therefore crucial identify new and effective strategies overcome successive resistance.For Amplicon-seq analysis, samples from index patient (primary metastasis lesions at...
OBJECTIVE--To investigate the association of three angiotensin converting enzyme (ACE) genotypes, DD, ID, and II, with occurrence or absence coronary atherosclerosis myocardial infarction hypertension. DESIGN--Cohort analysis study. SETTING--North-Italy reference centre. SUBJECTS--388 white Italian patients (281 males; mean age 60.7 (SD 12.5) years) proven (n = 255) angiographically normal arteries 133). A further group 290 healthy blood donors was tested for allele frequency comparison....
<h3>Objective</h3> To investigate the possible coexistence of mitochondrial DNA (mtDNA) mutations in patients with β myosin heavy chain (βMHC) linked hypertrophic cardiomyopathy (HCM) who develop congestive heart failure. <h3>Design</h3> Molecular analysis βMHC and mtDNA gene defects HCM. <h3>Setting</h3> Cardiovascular molecular diagnostic transplantation reference centre north Italy. <h3>Patients</h3> Four HCM underwent for end stage failure, after pedigree 60 relatives, eight additional...
Sarcoidosis is the disease in which increased levels of serum Angiotensin-converting enzyme (sACE) are most often detected. It has recently been shown that deletion (D) or insertion (I) a 250bp-DNA fragment ACE gene accounts for three main genotypes (i.e., II, ID, and DD) 47% total phenotypic variance sACE level. The aim our work was to investigate whether not patients with sarcoidosis have an incidence those coding highest level related genotypes. We studied 61 unrelated (test group) 80...
Coronary thrombosis is the major cause of acute myocardial ischaemia but can be, albeit rarely, clinically silent. We investigated a series autopsy hearts from hospitalized patients who died non-cardiac causes, to detect and study coronary thrombosis.The consisted 132 cases (81 men 51 women, age range 32-39 years, mean 63 +/- 14), in whom death was confirmed as extracardiac. Major epicardial arteries were isolated routinely processed for histopathological study. evaluated presence...
Abstract Homologous recombination deficiency (HRD) contributes to genomic instability and leads sensitivity poly ADP-ribose polymerase inhibitors (PARPi). HRD also activates the cyclic GMP–AMP synthase (cGAS)-STimulator of INterferon Genes (STING)-Interferon (IFN) pathway, highlighting need understand impact cGAS-STING-IFN signaling on PARPi efficacy. In this study, we analyzed a cohort thirty-five breast cancer (BC) patient-derived xenografts (PDX) mouse-derived allografts (MDA). correlated...
<div>Abstract<p>This study explores parallels between systemic hypoxia adaptation in high-altitude populations and tumorigenesis. We identified <i>EPAS1</i>, a gene critical for such as Tibetans Sherpas, playing similar adaptive role tumors arising under hypoxic conditions. Tumors from patients with chronic displayed impaired DNA repair frequent emergence of <i>EPAS1</i> variants, frequencies reaching up to 90%, echoing the positive selection seen...