Angelica Macauda
A5037698240- Multiple Myeloma Research and Treatments
- Pancreatic and Hepatic Oncology Research
- Myeloproliferative Neoplasms: Diagnosis and Treatment
- Epigenetics and DNA Methylation
- Acute Myeloid Leukemia Research
- Protein Degradation and Inhibitors
- Ubiquitin and proteasome pathways
- Glycosylation and Glycoproteins Research
- Peptidase Inhibition and Analysis
- Telomeres, Telomerase, and Senescence
- Autophagy in Disease and Therapy
- Chronic Lymphocytic Leukemia Research
- Histone Deacetylase Inhibitors Research
- Cancer Genomics and Diagnostics
- MicroRNA in disease regulation
- Immune Response and Inflammation
- Galectins and Cancer Biology
- Genetic factors in colorectal cancer
- Genetic Syndromes and Imprinting
- Cholangiocarcinoma and Gallbladder Cancer Studies
- Ocular Oncology and Treatments
- Chronic Myeloid Leukemia Treatments
- Hepatocellular Carcinoma Treatment and Prognosis
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Pancreatic function and diabetes
Heidelberg University
2016-2024
German Cancer Research Center
2016-2024
University of Pisa
2016-2021
Abstract Pancreatic ductal adenocarcinoma (PDAC) is among the most lethal cancers. Its poor prognosis predominantly due to fact that patients remain asymptomatic until disease reaches an advanced stage, alongside lack of early markers and screening strategies. A better understanding PDAC risk factors essential for identification groups at high in population. Genome-wide association studies (GWAS) have been a powerful tool detecting genetic variants associated with complex traits, including...
Abstract Telomere length measured in leukocyte (LTL) has been found to be associated with the risk of developing several cancer types, including myeloproliferative neoplasms (MPNs). LTL is genetically determined by, at least, 11 SNPs previously shown influence LTL. Their combination a score used as genetic instrument measure and evaluate causative association between types. We tested, for first time, “teloscore” 480 MPN patients 909 healthy controls European multi-center case–control study....
Abstract Telomeres are involved in processes like cellular growth, chromosomal stability, and proper segregation to daughter cells. Telomere length measured leukocytes (LTL) has been investigated different cancer types, including multiple myeloma (MM). However, LTL measurement is prone heterogeneity due sample handling study design (retrospective vs. prospective). genetically determined; genome-wide association studies identified 11 SNPs that, combined a score, can be used as genetic...
Summary Over the past four decades, remarkable progress has been made in treatment and prognosis of multiple myeloma ( MM ), although it remains an incurable disease. Chemotherapy resistance is a major hurdle for efficacy. Drug can be innate so driven by genes involved drug metabolism pathways. We performed association study 71 germline variants within those pathways ABCB 1 , ABCC 2 ABCG their regulators NR 1I2/ PXR 1I3/ CAR ) I nternational M ultiple yeloma r ESE arch (IMMEnSE) consortium,...
Although 21 pancreatic cancer susceptibility loci have been identified in individuals of European ancestry through genome-wide association studies (GWASs), much the heritability risk remains unidentified. A recessive genetic model could be a powerful tool for identifying additional variants. To discover recessively inherited loci, we performed re-analysis largest GWAS, Pancreatic Cancer Cohort Consortium (PanScan) and Case-Control (PanC4), including 8,769 cases 7,055 controls ancestry. Six...
Genetic variants in genes acting during the maturation process of immature B-cell to differentiated plasma cell could influence risk developing multiple myeloma (MM). During maturation, several programmed genetic rearrangements occur increase variation immunoglobulin chains. Class switch recombination (CSR) is one most important among these mechanisms. Germline polymorphisms altering even subtly this play a role etiology and outcome MM. We performed an association study 30 key CSR genes,...
Multiple myeloma (MM) is a malignancy of plasma cells usually infiltrating the bone marrow, associated with production monoclonal immunoglobulin (M protein) which can be detected in blood and/or urine. lines evidence suggest that genetic factors are involved MM pathogenesis, and several studies have identified single nucleotide polymorphisms (SNPs) susceptibility to disease. SNPs within miRNA-binding sites target genes (miRSNPs) may alter strength miRNA-mRNA interactions, thus deregulating...
There is overwhelming epidemiologic evidence that the risk of multiple myeloma (MM) has a solid genetic background. Genome-wide association studies (GWAS) have identified 23 loci contribute to susceptibility MM, but low individual penetrance. Combining SNPs in polygenic score (PRS) possible approach improve their usefulness. Using 2361 MM cases and 1415 controls from International Multiple Myeloma rESEarch (IMMEnSE) consortium, we computed weighted an unweighted PRS. We observed associations...
Abstract Myeloproliferative neoplasms (MPNs) are a group of diseases that cause myeloid hematopoietic cells to overproliferate. Epidemiological and familial studies suggest genetic factors contribute the risk developing MPN, but susceptibility MPN is still not well known. Indeed, only few loci known have clear role in predisposition this disease. Some reported diagnosis MPNs multiple myeloma (MM) same patients, biological causes unclear. We tested hypothesis two share at least partly loci....
Abstract We conducted the first large genome‐wide association study to identify novel genetic variants that predict better (or poorer) prognosis in colorectal cancer patients receiving standard first‐line oxaliplatin‐based chemotherapy vs without oxaliplatin. used data from two phase III trials, NCCTG N0147 and N9741 a population‐based patient cohort, DACHS. Multivariable Cox proportional hazards models were employed, including an interaction term between each SNP type of treatment for...
Abstract Gene expression profiling can be used for predicting survival in multiple myeloma (MM) and identifying patients who will benefit from particular types of therapy. Some germline single nucleotide polymorphisms (SNPs) act as quantitative trait loci (eQTLs) showing strong associations with gene levels. We performed an association study to test whether eQTLs genes reported associated prognosis MM are directly measures adverse outcome. Using the genotype‐tissue portal, we identified a...
We evaluated the association between germline genetic variants located within 3'-untranlsated region (polymorphic 3'UTR, ie, p3UTR) of candidate genes involved in multiple myeloma (MM). performed a case-control study International Multiple Myeloma rESEarch (IMMEnSE) consortium, consisting 3056 MM patients and 1960 controls recruited from eight countries. selected p3UTR six known to act different pathways relevant pathogenesis, namely KRAS (rs12587 rs7973623), VEGFA (rs10434), SPP1...
The purpose of this study was to conduct a two-stage case control association including 654 acute myeloid leukaemia (AML) patients and 3477 controls ascertained through the NuCLEAR consortium evaluate effect 27 immune-related single nucleotide polymorphisms (SNPs) on AML risk. In pooled analysis cohort studies, we found that carriers IL13rs1295686A/A genotype had an increased risk (PCorr = 0.0144) whereas VEGFArs25648T allele decreased developing disease 0.00086). addition, IL8rs2227307 SNP...
Abstract Pleiotropy, which consists of a single gene or allelic variant affecting multiple unrelated traits, is common across cancers, with evidence for genome‐wide significant loci shared cancer and noncancer traits. This feature particularly relevant in myeloma (MM) because several susceptibility that have been identified to date are pleiotropic. Therefore, the aim this study was identify novel pleiotropic variants involved MM risk using 28 684 independent nucleotide polymorphisms (SNPs)...
Topic: 13. Myeloma and other monoclonal gammopathies - Biology & Translational Research Background: Multiple myeloma (MM) is one of the most common hematological malignancies, accounting for 20% all newly diagnosed cancers. The recent data from Globocan show that in 2020, worldwide, number new cases was 159,985. Although current 5-year survival rate over 50% MM still considered an incurable disease since patients eventually relapse. Presence RAS genes reported about 75% relapsed/refractory...
Abstract Pancreatic ductal adenocarcinoma (PDAC) is one of the most lethal cancers. The vast majority patients have unresectable or metastatic disease at diagnosis, with poor prognosis and very short survival. Considering this fact, it urgent to understand genetic basis susceptibility PDAC develop more individualized prevention strategies. For that purpose, we comprehensively investigated whether 55,583 variants within 234 autophagy-related genes could influence risk developing in three...