A5072820400- BRCA gene mutations in cancer
- Genetic Associations and Epidemiology
- Epigenetics and DNA Methylation
- Nutrition, Genetics, and Disease
- Bioinformatics and Genomic Networks
- Glycosylation and Glycoproteins Research
- Gene expression and cancer classification
- Genomics and Chromatin Dynamics
- Estrogen and related hormone effects
- RNA modifications and cancer
- Galectins and Cancer Biology
- Genetic factors in colorectal cancer
- Molecular Biology Techniques and Applications
- Peptidase Inhibition and Analysis
- Hemoglobinopathies and Related Disorders
- Cancer Genomics and Diagnostics
- Genomic variations and chromosomal abnormalities
- DNA Repair Mechanisms
- Breast Cancer Treatment Studies
- Cancer Risks and Factors
- Cancer-related molecular mechanisms research
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Genetic and phenotypic traits in livestock
- Cancer Research and Treatments
- Health, Environment, Cognitive Aging
Queen's University Belfast
2007-2025
Precision Nanosystems (Canada)
2024
Breast Cancer Research Foundation
2013-2023
Breakthrough
2012-2023
Karolinska Institutet
2012-2021
German Cancer Research Center
2010-2021
University of Washington
2021
University of Cambridge
2021
Cancer Council Victoria
2021
University of California, Irvine
2021
Common variation on 14q24.1, close to RAD51B, has been associated with breast cancer: rs999737 and rs2588809 the risk of female cancer rs1314913 male cancer. The aim this study was investigate role RAD51B variants in predisposition, particularly context familial Finland. We sequenced coding region 168 Finnish patients from Helsinki for identification possible recurrent founder mutations. In addition, we studied known rs999737, rs2588809, SNPs haplotypes 44,791 cases 43,583 controls 40...
Data for multiple common susceptibility alleles breast cancer may be combined to identify women at different levels of risk. Such stratification could guide preventive and screening strategies. However, empirical evidence genetic risk is lacking. We investigated the value using 77 cancer-associated single nucleotide polymorphisms (SNPs) stratification, in a study 33 673 cases 381 control European origin. tested all possible pair-wise multiplicative interactions constructed 77-SNP polygenic...
Abstract Purpose: To assess the prevalence of defective homologous recombination (HR)-based DNA repair in sporadic primary breast cancers, examine clincopathologic features that correlate with HR and relationship neoadjuvant chemotherapy response. Experimental Design: We examined a cohort 68 patients cancer who received anthracylcine-based chemotherapy, core biopsies taken 24 hours after first cycle chemotherapy. assessed RAD51 focus formation, marker competence, by immunofluorescence...
Intense selective pressures applied over short evolutionary time have resulted in homogeneity within, but substantial variation among, horse breeds. Utilizing this population structure, 744 individuals from 33 breeds, and a 54,000 SNP genotyping array, breed-specific targets of selection were identified using an FST-based statistic calculated 500-kb windows across the genome. A 5.5-Mb region ECA18, which myostatin (MSTN) gene was centered, contained highest signature both Paint Quarter...
Genome-wide association studies have identified more than 70 common variants that are associated with breast cancer risk. Most of these map to non-protein-coding regions and several gene deserts, hundred kilobases lacking protein-coding genes. We hypothesized deserts harbor long-range regulatory elements can physically interact target genes influence their expression. To test this, we developed Capture Hi-C (CHi-C), which, by incorporating a sequence capture step into protocol, allows...
Genome-wide association studies have identified several common genetic variants associated with breast cancer risk. It is likely, however, that a substantial proportion of such loci not yet been discovered. We compared 296 114 tagging single-nucleotide polymorphisms in 1694 case subjects (92% two primary cancers or at least affected first-degree relatives) and 2365 control subjects, validation three independent series totaling 11 880 12 487 subjects. Odds ratios (ORs) 95% confidence...
Horses were domesticated from the Eurasian steppes 5,000–6,000 years ago. Since then, use of horses for transportation, warfare, and agriculture, as well selection desired traits fitness, has resulted in diverse populations distributed across world, many which have become or are process becoming formally organized into closed, breeding (breeds). This report describes a genome-wide set autosomal SNPs 814 36 breeds to provide first detailed description equine breed diversity. FST calculations,...
Variants of the MSTN gene encoding myostatin are associated with muscle hypertrophy phenotypes in a range mammalian species, most notably cattle, dogs, mice, and humans. Using sample registered Thoroughbred horses (n = 148), we have identified novel sequence polymorphism that is strongly (g.66493737C>T, P 4.85×10−8) best race distance among elite racehorses 79). This observation was independently validated (P 1.91×10−6) resampled group Thoroughbreds 62) cohort 37, 0.0047) produced by same...
Adenoid cystic carcinoma (AdCC) is a rare form of triple-negative and basal-like breast cancer that has an indolent clinical behaviour. Four AdCCs were recently shown to harbour the recurrent chromosomal translocation t(6;9)(q22-23;p23-24), which leads formation MYB-NFIB fusion gene. Our aims (i) determine prevalence gene in breast; (ii) characterize copy number aberrations found AdCCs; (iii) whether are genomically distinct from histological grade-matched or invasive ductal carcinomas no...
Abstract Few studies have evaluated the association between DNA methylation in white blood cells (WBC) and risk of breast cancer. The evaluation WBC as a biomarker cancer is particular importance peripheral often available prospective cohorts easier to obtain than tumor or normal tissues. Here, we used prediagnostic samples from three analyze two ATM intragenic loci (ATMmvp2a ATMmvp2b) genome-wide long interspersed nuclear element-1 (LINE1) repetitive elements. Samples were case–control...
Thoroughbred horses have been selected for exceptional racing performance resulting in system-wide structural and functional adaptations contributing to elite athletic phenotypes. Because selection has recent intense a closed population that stems from small number of founder animals Thoroughbreds represent unique within which identify genomic contributions exercise-related traits. Employing genetics-based hitchhiking mapping approach we performed genome scan using 394 autosomal X chromosome...
Background Sleep complaints are common among patients with traumatic brain injury. Evaluation of this population is confounded by polypharmacy and comorbid disease, few studies addressing combat-related injuries. The aim study was to assess the prevalence sleep disorders soldiers who sustained Methods design a retrospective review returning from combat mild moderate All underwent comprehensive evaluations. We determined in assessed demographics, mechanism injury, medication use, psychiatric...