Nicola J. Camp
A5070882400- Multiple Myeloma Research and Treatments
- Genetic Associations and Epidemiology
- Chronic Lymphocytic Leukemia Research
- BRCA gene mutations in cancer
- vaccines and immunoinformatics approaches
- Genetic factors in colorectal cancer
- Cancer Genomics and Diagnostics
- Lymphoma Diagnosis and Treatment
- Gene expression and cancer classification
- Protein Degradation and Inhibitors
- Genetic Mapping and Diversity in Plants and Animals
- RNA modifications and cancer
- Molecular Biology Techniques and Applications
- Prostate Cancer Treatment and Research
- Epigenetics and DNA Methylation
- Glycosylation and Glycoproteins Research
- Genomic variations and chromosomal abnormalities
- Genetic and phenotypic traits in livestock
- Histone Deacetylase Inhibitors Research
- Bioinformatics and Genomic Networks
- Computational Drug Discovery Methods
- Immunodeficiency and Autoimmune Disorders
- Breast Cancer Treatment Studies
- Genetics, Bioinformatics, and Biomedical Research
- Advanced Biosensing Techniques and Applications
University of Utah
2016-2025
Huntsman Cancer Institute
2016-2025
Debre Markos University
2023
Medical University of Białystok
2023
Chung-Ang University
2023
Institut für Bahntechnik (Germany)
2023
Universidad de Guadalajara
2023
National Cancer Institute
2010-2021
Division of Cancer Epidemiology and Genetics
2010-2021
St Mary's Hospital
2021
Genetic testing for breast cancer susceptibility is widely used, but many genes, evidence of an association with weak, underlying risk estimates are imprecise, and reliable subtype-specific lacking.
Age-related macular degeneration (AMD) is the most common cause of irreversible vision loss in developed world and has a strong genetic predisposition. A locus at human chromosome 10q26 affects risk AMD, but precise gene(s) have not been identified. We genotyped 581 AMD cases 309 normal controls Caucasian cohort Utah. demonstrate that single-nucleotide polymorphism, rs11200638, promoter region HTRA1 likely causal variant for estimated to confer population attributable 49.3%. The gene encodes...
Rare germline genetic variants in several genes are associated with increased breast cancer (BC) risk, but their precise contributions to different disease subtypes unclear. This information is relevant guidelines for gene panel testing and risk prediction.To characterize tumors BC susceptibility large-scale population- or hospital-based studies.The multicenter, international case-control analysis of the BRIDGES study included 42 680 patients 46 387 control participants, comprising women...
Background —Cytokine gene variations are contributory factors in inflammatory pathology. Allele frequencies of interleukin (IL)-1 cluster genes [IL-1A(-889), IL-1B(-511), IL-1B(+3953), IL-1RN Intron 2 VNTR] and tissue necrosis factor (TNF)-α [TNFA(-308)] were measured healthy blood donors (healthy control subjects), patients with angiographically normal coronary arteries (patient single-vessel disease (SVD), those multivessel (MVD). Methods Results —Five hundred fifty-six attending for...
Prostate cancer has a strong familial component but uncovering the molecular basis for inherited susceptibility this disease been challenging. Recently, rare, recurrent mutation (G84E) in HOXB13 was reported to be associated with prostate risk. Confirmation and characterization of finding is necessary potentially translate information clinic. To examine large international sample families, we genotyped 14 other SNPs or flanking 2,443 families recruited by International Consortium Cancer...
Abstract Genome-wide association studies (GWAS) have led to the identification of hundreds susceptibility loci across cancers, but impact further remains uncertain. Here we analyse summary-level data from GWAS European ancestry fourteen cancer sites estimate number common variants (polygenicity) and underlying effect-size distribution. All cancers show a high degree polygenicity, involving at minimum thousands loci. We project that sample sizes required explain 80% heritability vary 60,000...
Abstract Several chronic lymphocytic leukaemia (CLL) susceptibility loci have been reported; however, much of the heritable risk remains unidentified. Here we perform a meta-analysis six genome-wide association studies, imputed using merged reference panel 1,000 Genomes and UK10K data, totalling 6,200 cases 17,598 controls after replication. We identify nine at 1p36.11 (rs34676223, P =5.04 × 10 −13 ), 1q42.13 (rs41271473, =1.06 −10 4q24 (rs71597109, =1.37 4q35.1 (rs57214277, =3.69 −8 6p21.31...
Physical inactivity and sedentary behaviour are associated with higher breast cancer risk in observational studies, but ascribing causality is difficult. Mendelian randomisation (MR) assesses by simulating randomised trial groups using genotype. We assessed whether lifelong physical activity or time, genotype, may be causally overall, pre/post-menopause, case-groups defined tumour characteristics.
Protein truncating variants in ATM, BRCA1, BRCA2, CHEK2, and PALB2 are associated with increased breast cancer risk, but risks missense these genes uncertain. We analyzed data on 59,639 cases 53,165 controls from studies participating the Breast Cancer Association Consortium BRIDGES project. sampled training (80%) validation (20%) sets to analyze rare ATM (1146 variants), BRCA1 (644), BRCA2 (1425), CHEK2 (325), (472). evaluated according five silico prediction-of-deleteriousness algorithms,...
The causal relevance of polyunsaturated fatty acids (PUFAs) for risk site-specific cancers remains uncertain.
To determine whether known variants of the interleukin-1 (IL-1) and tumor necrosis factor (TNF) gene families are associated with severe manifestations meningococcal disease, 276 white patients 4–70 years age (median, 17 years) were genotyped. All had microbiologically proven Neisseria meningitidis infection; 39 died 237 survived. A significant association (P < .001) was found between fatal outcome genotype at IL1B (nucleotide position −511). Homozygous individuals, both for common (1/1)...
Given the frequent and largely incurable occurrence of multiple myeloma, identification germline genetic mutations that predispose cells to myeloma may provide insight into disease etiology developmental mechanisms its cell origin, plasma (PC). Here, we identified familial early-onset kindreds with truncating in lysine-specific demethylase 1 (LSD1/KDM1A), an epigenetic transcriptional repressor primarily demethylates histone H3 on lysine 4 regulates hematopoietic stem self-renewal. In...
PURPOSE A polygenic risk score (PRS) consisting of 313 common genetic variants (PRS ) is associated with breast cancer and contralateral cancer. This study aimed to evaluate the association PRS clinicopathologic characteristics of, survival following, METHODS Women invasive were included, 98,397 European ancestry 12,920 Asian ancestry, from Breast Cancer Association Consortium (BCAC), 683 women MINDACT trial. Associations between characteristics, including 70-gene signature for MINDACT,...
Abstract Candidate gene association studies often utilize one single nucleotide polymorphism (SNP) for analysis, with an initial report typically not being replicated by subsequent studies. The failure to replicate may result from incomplete or poor identification of disease‐related variants haplotypes, possibly due naive SNP selection. A method linkage disequilibrium (LD) groups and selection SNPs that capture sufficient intra‐genic genetic diversity is described. We assume all minor allele...