A5035891313- BRCA gene mutations in cancer
- Nutrition, Genetics, and Disease
- Genetic Associations and Epidemiology
- Genetics, Bioinformatics, and Biomedical Research
- Epigenetics and DNA Methylation
- Acute Lymphoblastic Leukemia research
- Gene expression and cancer classification
- Metabolomics and Mass Spectrometry Studies
- Genomics and Chromatin Dynamics
- RNA modifications and cancer
- Bioinformatics and Genomic Networks
- Prenatal Screening and Diagnostics
- Cancer-related molecular mechanisms research
- Acute Myeloid Leukemia Research
- RNA Research and Splicing
- CRISPR and Genetic Engineering
- Advanced Breast Cancer Therapies
- Molecular Biology Techniques and Applications
- Genetic Syndromes and Imprinting
- Chronic Lymphocytic Leukemia Research
- PI3K/AKT/mTOR signaling in cancer
- Biomedical Text Mining and Ontologies
- MicroRNA in disease regulation
- FOXO transcription factor regulation
- Research Data Management Practices
University of Algarve
2014-2024
Centre for Health Technology and Services Research
2021-2024
Algarve Biomedical Center
2016-2022
Centre of Biomedical Research
2019
University of Cambridge
2006-2013
Cancer Research UK Cambridge Center
2008-2013
Addenbrooke's Hospital
2010-2013
Cancer Research UK
2008-2013
National Cancer Registration Service
2007
Hutchison/MRC Research Centre
2006
The recent whole-genome scan for breast cancer has revealed the FGFR2 (fibroblast growth factor receptor 2) gene as a locus associated with small, but highly significant, increase in risk of developing cancer. Using fine-scale genetic mapping region, it been possible to narrow causative haplotype eight strongly linked single nucleotide polymorphisms (SNPs) spanning region 7.5 kilobases (kb) second intron gene. Here we describe functional analysis define SNP, and propose model disease...
Genetic mapping studies have identified multiple cancer susceptibility regions at chromosome 8q24, upstream of the MYC oncogene. has been widely presumed as regulated target gene, but definitive evidence functionally linking these with difficult to obtain. Here we examined candidate functional variants a haplotype block 8q24 encompassing two independent risk alleles for prostate and breast cancer, rs620861 rs13281615. We used DNase I hypersensitive sites tool prioritise further analysis....
Around 25-40% of cases hereditary diffuse gastric cancer (HDGC) are caused by heterozygous E-cadherin (CDH1) germline mutations. The mechanisms for loss the second allele still remain unclear. aims this study were to elucidate somatic inactivation wild-type CDH1 and seek evidence cadherin switching. Archival tumour material was analysed from 16 patients with mutations seven fulfilling HDGC criteria without exons sequenced. promoter methylation bisulphite sequencing pyrosequencing specificity...
The imprinted insulin-like growth factor 2 (IGF2) gene is expressed predominantly from the paternal allele. Loss of imprinting (LOI) associated with hypomethylation at promoter proximal sequence (DMR0) IGF2 was proposed as a predisposing constitutive risk biomarker for colorectal cancer. We used pyrosequencing to assess whether DMR0 methylation either present constitutively prior cancer or it acquired tissue-specifically after onset DNA samples tumour tissues and matched non-tumour 22 breast...
Purpose The prognosis of breast cancer varies considerably among individuals, and inherited genetic factors may help explain this variability. Of particular interest are genes involved in defense against reactive oxygen species (ROS) because ROS thought to cause DNA damage contribute the pathogenesis cancer. Patients Methods We examined associations between 54 polymorphisms that tag known common variants (minor allele frequency > 0.05) 10 oxidative repair (CAT, SOD1, SOD2, GPX1, GPX4,...
We have conducted a three-stage, comprehensive single nucleotide polymorphism (SNP)-tagging association study of ESR1 gene variants (SNPs) in more than 55 000 breast cancer cases and controls from studies within the Breast Cancer Association Consortium (BCAC). No large risks or highly significant associations were revealed. SNP rs3020314, tagging region intron 4, is associated with an increase susceptibility dominant mode action European populations. Carriers c-allele odds ratio (OR) 1.05...
Recent genome-wide association studies have identified a breast cancer susceptibility locus on 16q12 with an unknown biological basis.We used set of single nucleotide polymorphism (SNP) markers to generate fine-scale map and narrowed the region 133 kb DNA segment containing largely uncharacterized hypothetical gene LOC643714, short intergenic 5 ′ end TOX3.Re-sequencing this in European subjects 293 common polymorphisms, including 26 highly correlated candidate causal variants.By evaluation...
The National Human Genome Research Institute Catalog of Published Genome-Wide Association Studies (GWAS) has collected, curated and made available data from over 7100 studies. recently developed GWAS representational state transfer (REST) application programming interface (API) is the only method allowing programmatic access to this resource.Here, we describe gwasrapidd, an R package that provides first client REST API, representing important software counterpart server-side component....
Protein-rich legumes accompanied carbohydrate-rich cereals since the beginning of agriculture and yet their domestication history is not as well understood. Lentil ( Lens culinaris Medik. subsp. ) was first cultivated in Southwest Asia (SWA) 8000–10,000 years ago but archeological evidence unclear to how many times it may have been independently domesticated, which SWA region(s) this happened, whether wild species within genus contributed gene pool. In study, we combined...
Glioma, a primary tumor of the central nervous system originating from glial cells, continues to pose significant therapeutic challenges, particularly in its high-grade variants. Genetic analyses have revealed that majority gliomas exhibit alterations RTK/RAS/PI3K/AKT signaling cascade. Forkhead box protein O (FOXO) transcription factors and their upstream regulator family Tribbles been characterized as important components downstream effector network this pathway. Here, we investigated role...
Abstract Previous studies involving identical twins with concordant leukemia and retrospective scrutiny of archived neonatal blood spots have shown that common chromosome translocations pediatric frequently arise before birth. The IGH/TCR clonotypic sequences used as surrogate molecular markers suggest this is also likely to be true for hyperdiploid acute lymphoblastic (ALL). Yet evidence hyperdiploidy itself an early or initiating event occurring prenatally has been limited. Now, however,...
Abstract Studies of monozygotic twins with concordant leukemia and scrutiny archived neonatal blood by polymerase chain reaction (PCR) indicated that many pediatric leukemias are initiated prenatally chromosomal translocation followed a variable postnatal period before diagnosis disease. The latter is thought to reflect persistent preleukemic stage requirement for secondary genetic events. We sought examine this further examination spots in rare cases MLL fusion‐positive or ETV6/RUNX1 (...
Abstract Introduction Cis -acting regulatory single nucleotide polymorphisms (SNPs) at specific loci may modulate penetrance of germline mutations the same by introducing different levels expression wild-type allele. We have previously reported that BRCA2 shows differential allelic and we hypothesize known variable might be associated with this mechanism. Methods combined haplotype analysis in breast tissue to identify haplotypes candidate cis-regulatory variants. These variants underwent...
Abstract Introduction Normal gene expression variation is thought to play a central role in inter-individual and susceptibility disease. Regulatory polymorphisms cis-acting elements result the unequal of alleles. Differential allelic (DAE) heterozygote individuals could be used develop new approach discover regulatory breast cancer loci. As access large numbers fresh tissue perform such studies difficult, suitable surrogate test must identified for future studies. Methods We measured...
TOX3 maps to 16q12, a region commonly lost in breast cancers and recently implicated the risk of developing cancer. However, not much is known role itself cancer biology. This first study determine importance mutations cancers. We screened for 133 tumours identified four (three missense, one in-frame deletion 30 base pairs) six primary tumours, corresponding an overall mutation frequency 4.5%. One potentially deleterious missense exon 3 (Leu129Phe) was tumour (genomic DNA cDNA). Whilst copy...
Breast cancer (BC) is the most frequently diagnosed and a leading cause of death among women worldwide. Early BC potentially curable, but mortality rates still observed patients demonstrate urgent need novel more effective diagnostic therapeutic options. Limitless self-renewal hallmark cancer, governed by telomere maintenance. In around 95% cases, this process achieved telomerase reactivation through upregulation human reverse transcriptase (hTERT). The hypermethylation specific region...
BRCA1 and BRCA2 mutation carriers are at substantially increased risk for developing breast ovarian cancer. The incomplete penetrance coupled with the variable age diagnosis in of same suggests existence genetic nongenetic modifying factors. In this study, we evaluated putative role variants many candidate modifier genes.
A synonymous single nucleotide polymorphism (SNP) rs172378 (A>G, Gly−>Gly) in the complement component C1QA has been proposed to be associated with distant breast cancer metastasis. We previously reported overexpression of this gene significantly better prognosis oestrogen-receptor-negative tumours. The purpose study was investigate association expression and survival. analysed pattern normal tumour tissue samples, further explored its involvement relation mortality 2270 women participating...
Abstract Metabolite profiling using 1H nuclear magnetic resonance (NMR) spectroscopy was used to investigate the metabolic changes associated with deletion of gene for transcriptional coactivator p300 in human colon carcinoma cell line HCT116. Multivariate statistical methods were distinguish between metabolite patterns that dependent on growth conditions and those specifically loss function. In absence serum, wild-type cells showed slower growth, which accompanied by a marked decrease...
Abstract Motivation: In the past decade, a number of technologies to quantify allele-specific expression (ASE) in genome-wide manner have become available researchers. We investigate application single-nucleotide polymorphism (SNP) microarrays this task, exploring data obtained from both cell lines and primary tissue for which RNA DNA profiles are available. Results: analyze two experiments that make use high-density Illumina Infinium II genotyping arrays measure ASE. first preprocess each...