Daniele Campa
University of Pisa
GeneGenome-wide association studyCancerInternal medicineGenotypeSNPOncologyCase-control studySingle-nucleotide polymorphismAlleleGenetic associationPancreatic diseaseProstate cancerPancreatic cancerPopulationCancer researchBreast cancerGeneticsBioinformaticsMedicineBiology
Publications 192
#1Anna Morra (NKI-AVL: Netherlands Cancer Institute)H-Index: 1
#2Maria Escala-Garcia (NKI-AVL: Netherlands Cancer Institute)H-Index: 3
Last. Paul L. Auer (UWM: University of Wisconsin–Milwaukee)H-Index: 48
view all 0 authors...
BACKGROUND Given the high heterogeneity among breast tumors, associations between common germline genetic variants and survival that may exist within specific subgroups could go undetected in an unstratified set of breast cancer patients. METHODS We performed genome-wide association analyses within 15 subgroups of breast cancer patients based on prognostic factors, including hormone receptors, tumor grade, age, and type of systemic treatment. Analyses were based on 91,686 female patients of Euro...
#1Hanla A Park (DKFZ: German Cancer Research Center)
#2Sonja Neumeyer (DKFZ: German Cancer Research Center)H-Index: 2
Last. Natalia AntonenkovaH-Index: 34
view all 152 authors...
Background null Despite a modest association between tobacco smoking and breast cancer risk reported by recent epidemiological studies, it is still equivocal whether smoking is causally related to breast cancer risk. null Methods null We applied Mendelian randomisation (MR) to evaluate a potential causal effect of cigarette smoking on breast cancer risk. Both individual-level data as well as summary statistics for 164 single-nucleotide polymorphisms (SNPs) reported in genome-wide association stu...
#1Angelica Macauda (DKFZ: German Cancer Research Center)H-Index: 4
#2Chiara Piredda (UniPi: University of Pisa)
Last. Daniele Campa (UniPi: University of Pisa)H-Index: 34
view all 54 authors...
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 expression quantitative trait loci (eQTLs) showing strong associations with gene expression levels. We performed an association study to test whether eQTLs of genes reported to be associated with prognosis of MM patients are directly associated with measures of adverse outcome...
#1Laura Pistoni (UniPi: University of Pisa)H-Index: 1
#2Manuel Gentiluomo (UniPi: University of Pisa)H-Index: 6
Last. Yogesh K. Vashist (UHH: University of Hamburg)H-Index: 27
view all 58 authors...
Pancreatic ductal adenocarcinoma (PDAC) is among the most lethal cancers. Its poor prognosis is predominantly due to the fact that most patients remain asymptomatic until the disease reaches an advanced stage, alongside the lack of early markers and screening strategies. A better understanding of PDAC risk factors is essential for the identification of groups at high risk in the population. Genome-wide association studies (GWAS) have been a powerful tool for detecting genetic variants associated...
#1Joseph S Baxter (ICR: Institute of Cancer Research)H-Index: 1
#2Nichola Johnson (ICR: Institute of Cancer Research)H-Index: 46
Last. Qin Wang (University of Cambridge)H-Index: 43
view all 185 authors...
A combination of genetic and functional approaches has identified three independent breast cancer risk loci at 2q35. A recent fine-scale mapping analysis to refine these associations resulted in 1 (signal 1), 5 (signal 2), and 42 (signal 3) credible causal variants at these loci. We used publicly available in silico DNase I and ChIP-seq data with in vitro reporter gene and CRISPR assays to annotate signals 2 and 3. We identified putative regulatory elements that enhanced cell-type-specific trans...
1 CitationsSource
#2Manuel Gentiluomo (UniPi: University of Pisa)H-Index: 6
Last. Daniele Campa (UniPi: University of Pisa)H-Index: 34
view all 66 authors...
Background Most cases of pancreatic ductal adenocarcinoma (PDAC) are asymptomatic in early stages, and the disease is typically diagnosed in advanced phases, resulting in very high mortality. Tools to identify individuals at high risk of developing PDAC would be useful to improve chances of early detection. Objective We generated a polygenic risk score (PRS) for PDAC risk prediction, combining the effect of known risk SNPs, and carried out an exploratory analysis of a multifactorial score. Metho...
5 CitationsSource
#1Juliette CoignardH-Index: 1
Last. Antonis C. Antoniou (University of Cambridge)H-Index: 83
view all 222 authors...
#1Ombretta Melaiu (UniPi: University of Pisa)H-Index: 12
#2Angelica Macauda (DKFZ: German Cancer Research Center)H-Index: 4
Last. Federica Gemignani (UniPi: University of Pisa)H-Index: 34
view all 54 authors...
We evaluated the association between germline genetic variants located within the 3'-untranlsated region (polymorphic 3'UTR, ie, p3UTR) of candidate genes involved in multiple myeloma (MM). We performed a case-control study within the International Multiple Myeloma rESEarch (IMMEnSE) consortium, consisting of 3056 MM patients and 1960 controls recruited from eight countries. We selected p3UTR of six genes known to act in different pathways relevant in MM pathogenesis, namely KRAS (rs12587 and rs...
#1Matteo Giaccherini (UniPi: University of Pisa)H-Index: 1
#2Angelica Macauda (DKFZ: German Cancer Research Center)H-Index: 4
Last. Daniele Campa (UniPi: University of Pisa)H-Index: 34
view all 49 authors...
Telomeres are involved in processes like cellular growth, chromosomal stability, and proper segregation to daughter cells. Telomere length measured in leukocytes (LTL) has been investigated in different cancer types, including multiple myeloma (MM). However, LTL measurement is prone to heterogeneity due to sample handling and study design (retrospective vs. prospective). LTL is genetically determined; genome-wide association studies identified 11 SNPs that, combined in a score, can be used as a ...
1 CitationsSource
Over the past decade, telomeres have attracted increasing attention due to the role they play in human fertility. However, conflicting results have been reported on the possible association between sperm telomere length (STL) and leukocyte telomere length (LTL) and the quality of the sperm parameters. The aim of this study was to run a comprehensive study to investigate the role of STL and LTL in male spermatogenesis and infertility. Moreover, the association between the sperm parameters and 11 ...
1 CitationsSource