Debora Fumagalli
A5006092979- Breast Cancer Treatment Studies
- HER2/EGFR in Cancer Research
- Cancer Genomics and Diagnostics
- Advanced Breast Cancer Therapies
- Monoclonal and Polyclonal Antibodies Research
- Cancer Immunotherapy and Biomarkers
- Peptidase Inhibition and Analysis
- Lung Cancer Treatments and Mutations
- Estrogen and related hormone effects
- Genetic factors in colorectal cancer
- Colorectal Cancer Treatments and Studies
- Cancer Treatment and Pharmacology
- Cancer Cells and Metastasis
- Gene expression and cancer classification
- S100 Proteins and Annexins
- BRCA gene mutations in cancer
- Signaling Pathways in Disease
- Molecular Biology Techniques and Applications
- Chromatin Remodeling and Cancer
- RNA regulation and disease
- Chronic Lymphocytic Leukemia Research
- Breast Lesions and Carcinomas
- Cytokine Signaling Pathways and Interactions
- Fibroblast Growth Factor Research
- Gastric Cancer Management and Outcomes
Fondazione IRCCS Istituto Nazionale dei Tumori
2017-2023
Breast International Group
2014-2023
NSABP Foundation
2008-2023
Association des Operateurs Postaux Publics Europeens
2018-2022
Institut Jules Bordet
2011-2021
NRG Oncology
2020
Bristol-Myers Squibb (Germany)
2017-2018
Université Libre de Bruxelles
2010-2018
Memorial Sloan Kettering Cancer Center
2017-2018
Vall d'Hebron Institute of Oncology
2018
Poly(adenosine diphosphate–ribose) polymerase inhibitors target cancers with defects in homologous recombination repair by synthetic lethality. New therapies are needed to reduce recurrence patients BRCA1 or BRCA2 germline mutation–associated early breast cancer.
The purpose of this study was to examine the prognostic and oxaliplatin predictive value mismatch repair (MMR) status common hot spot mutations, which we previously identified in stage II III colon cancer.Mutations BRAF, KRAS, NRAS, MET, PIK3CA were profiled 2,299 tumors from National Surgical Adjuvant Breast Bowel Project (NSABP) clinical trials C-07 (n = 1,836) C-08 463) with Type Plex chemistry mass spectrometry. tested worth adding 5-fluorouracil plus leucovorin, bevacizumab FOLFOX. Cox...
Invasive lobular breast cancer (ILBC) is the second most common histologic subtype after invasive ductal (IDBC). Despite clinical and pathologic differences, ILBC still treated as IDBC. We aimed to identify genomic alterations in with potential implications.From an initial 630 primary tumors, we interrogated oncogenic substitutions insertions deletions of 360 genes genome-wide copy number aberrations 413 170 samples, respectively, correlated those findings clinicopathologic outcome...
APHINITY, at 45 months median follow-up, showed that pertuzumab added to adjuvant trastuzumab and chemotherapy significantly improved invasive disease-free survival (IDFS) (hazard ratio 0.81 [95% CI, 0.66 1.00], P = .045) for patients with early human epidermal growth factor receptor 2 (HER2)-positive breast cancer (BC), specifically those node-positive or hormone (HR)-negative disease. We now report the preplanned second interim overall (OS) descriptive updated IDFS analysis 74...
We investigated whether mutations in the gene encoding phosphatidylinositol 3-kinase (PI3K) catalytic subunit (PIK3CA) correlates with response to neoadjuvant human epidermal growth factor receptor 2 (HER2) -targeted therapies patients breast cancer.Baseline tissue biopsies were available from HER2-positive early cancer who enrolled onto Neoadjuvant Lapatinib and/or Trastuzumab Treatment Optimization trial (NeoALTTO). Activating PIK3CA identified using mass spectrometry-based...
Little is known about how RNA editing operates in cancer. Transcriptome analysis of 68 normal and cancerous breast tissues revealed that the enzyme ADAR acts uniformly, on same loci, across tissues. In controlled expression experiments, frequency increased at all loci with levels according to logistic model. Loci-specific "editabilities," i.e., propensities be edited by ADAR, were quantifiable fitting function dose-response data. The was tumor cells comparison controls. Type I interferon...
AURORA aims to study the processes of relapse in metastatic breast cancer (MBC) by performing multi-omics profiling on paired primary tumors and early-course metastases. Among 381 patients (primary tumor metastasis pairs: 252 targeted gene sequencing, 152 RNA 67 single nucleotide polymorphism arrays), we found a driver role for GATA1 MEN1 somatic mutations. Metastases were enriched ESR1, PTEN, CDH1, PIK3CA, RB1 mutations; MDM4 MYC amplifications; ARID1A deletions. An increase clonality was...
Certain somatic alterations in breast cancer can define prognosis and response to therapy. This study investigated the frequencies, prognostic effects, predictive effects of known mutations using a randomized, adjuvant, phase III clinical trial dataset. The FinHER was III, randomized adjuvant involving 1010 women. Patients with human epidermal growth factor receptor 2 (HER2)–positive were further 9 weeks trastuzumab or no trastuzumab. Seven hundred five tumors had sufficient DNA for...
Purpose Previous studies have suggested an association between metformin use and improved outcome in patients with diabetes breast cancer. In the current study, we aimed to explore this human epidermal growth factor receptor 2 (HER2 ) -positive primary cancer context of a large, phase III adjuvant trial. Patients Methods The ALTTO trial randomly assigned HER2-positive receive 1 year either trastuzumab alone, lapatinib their sequence, or combination. substudy, evaluated whether at study...
In neoadjuvant trials, treatment of human epidermal growth factor receptor 2 (HER2)-positive breast cancers with dual HER2 blockade resulted in increased pathologic complete response (pCR) rates compared each targeted agent alone. Amplification and/or overexpression currently remains the only biomarker for therapeutic decisions, but it is insufficient to explain heterogeneous anti-HER2 agents.To investigate ability clinically and biologically relevant genes gene signatures (GSs) measured by...
Abstract Background An increasing number of studies show that genetic markers can aid in refining prognostic information and predicting the benefit from systemic therapy. Our goal was to develop a high throughput, cost-effective simple methodology for detection clinically relevant hot spot mutations colon cancer. Methods The Maldi-Tof mass spectrometry platform OncoCarta panel Sequenom were used profile 239 cancers 39 metastatic lymph nodes NSABP clinical trial C-07 utilizing routinely...
Purpose Several mechanisms have been proposed to explain tamoxifen resistance of estrogen receptor (ER) –positive tumors, but a clinically useful explanation for such has not described. Because the ER is treatment target tamoxifen, linear association between expression levels and degree benefit from might be expected. However, an never demonstrated with conventional clinical assays, currently used as dichotomous marker. We gene profiling protein assays help elucidate molecular mechanism(s)...
Purpose Phosphatidylinositol-4, 5-bisphosphate 3-kinase catalytic subunit alpha ( PIK3CA) mutations are frequently observed in primary breast cancer. We evaluated their prognostic relevance by performing a pooled analysis of individual patient data. Patients and Methods Associations between PIK3CA status clinicopathologic characteristics were tested applying Cox regression models adjusted for age, tumor size, nodes, grade, estrogen receptor (ER) status, human epidermal growth factor 2 (HER2)...
National Surgical Adjuvant Breast and Bowel Project (NSABP) trial B-31 suggested the efficacy of adjuvant trastuzumab, even in HER2-negative breast cancer. This finding prompted us to develop a predictive model for degree benefit from trastuzumab using archived tumor blocks B-31.Case subjects with were randomly divided into discovery (n = 588) confirmation cohorts 991). A was built cohort through gene expression profiling 462 genes nCounter assay. predefined cut point tested cohort....
In the neoadjuvant treatment (NAT) setting, dual HER2-targeted therapy is associated with increased pathologic complete response (pCR) rates compared each alone. Biomarkers allowing to predict during NAT are needed. We aim evaluate whether circulating tumor DNA (ctDNA) anti-HER2-targeted therapy.Plasma collected before NAT, at week 2, and surgery from patients enrolled in NeoALTTO trial was assessed using digital PCR for PIK3CA TP53 mutation detection.A total of 69 455 (15.2%) had a and/or...
In premenopausal patients with human epidermal growth factor receptor 2 (HER2)–positive early breast cancer, the gonadotoxicity of trastuzumab and lapatinib remains largely uncertain, prognostic effect treatment-related amenorrhea (TRA) is unknown. Adjuvant Lapatinib and/or Trastuzumab Treatment Optimization (BIG 2-06) phase III trial, HER2-positive cancer were randomized (1:1:1:1) to receive one year trastuzumab, lapatinib, their sequence, or combination. As per study protocol, menopausal...