Chris Jacobs
A5102714519- BRCA gene mutations in cancer
- Genomics and Rare Diseases
- Cancer Genomics and Diagnostics
- Nutrition, Genetics, and Disease
- Genetic Associations and Epidemiology
- DNA Repair Mechanisms
- Ethics in Clinical Research
- Delphi Technique in Research
- Family Support in Illness
- Cystic Fibrosis Research Advances
- CRISPR and Genetic Engineering
- Innovations in Medical Education
- Childhood Cancer Survivors' Quality of Life
- Ethics and Legal Issues in Pediatric Healthcare
- Prenatal Screening and Diagnostics
- Tracheal and airway disorders
- Simulation-Based Education in Healthcare
- Global Cancer Incidence and Screening
- Genetic factors in colorectal cancer
- Neurogenetic and Muscular Disorders Research
- Amyotrophic Lateral Sclerosis Research
- Biomedical Ethics and Regulation
- Genomic variations and chromosomal abnormalities
- Ethics in medical practice
- Genetics, Bioinformatics, and Biomedical Research
University of Bath
2024
Great Western Hospital
2021-2024
University of Technology Sydney
2018-2024
Great Western Hospitals NHS Foundation Trust
2019-2024
University of Surrey
2023-2024
University of Florida
2022-2023
National Health Service
2015-2022
Guy's Hospital
2007-2022
Institute of Cancer Research
2022
Instituto Tropical de Medicina Reprodutiva
2020-2022
Abstract Introduction It is frequent for news items to lead a short lived temporary increase in interest particular health related service, however it rare this have long lasting effect. In 2013, the UK particular, there has been unprecedented publicity hereditary breast cancer, with Angelina Jolie’s decision genetic testing BRCA1 gene and subsequently undergo risk reducing mastectomy (RRM), pre-release of NICE guidelines on familial cancer January their final release 26 th June. The created...
Technological advances raise the possibility of systematic population-based genetic testing for cancer-predisposing mutations, but it is uncertain whether benefits outweigh disadvantages. We directly compared psychological/quality-of-life consequences such an approach to family history (FH)-based testing.In a randomized controlled trial BRCA1/2 gene-mutation in Ashkenazi Jewish (AJ) population, we all participants population screening (PS) arm with those fulfilling standard FH-based clinical...
Population-based testing for BRCA1/2 mutations detects the high proportion of carriers not identified by cancer family history (FH)-based testing. We compared cost-effectiveness population-based BRCA with standard FH-based approach in Ashkenazi Jewish (AJ) women.A decision-analytic model was developed to compare lifetime costs and effects amongst AJ women UK founder-mutation amongst: 1) all population age 30 years or older 2) just those a strong FH (≥10% mutation risk). The assumes that are...
Common genetic variants contribute to the observed variation in breast cancer risk for BRCA2 mutation carriers; those known date have all been found through population-based genome-wide association studies (GWAS). To comprehensively identify modifying loci carriers, we conducted a deep replication of an ongoing GWAS discovery study. Using ranked P-values associations with imputed genotype 1.4 M SNPs, 19,029 SNPs were selected and designed inclusion on custom Illumina array that included...
Abstract Introduction Several common alleles have been shown to be associated with breast and/or ovarian cancer risk for BRCA1 and BRCA2 mutation carriers. Recent genome-wide association studies of identified eight additional susceptibility loci: rs1011970 (9p21, CDKN2A/B) , rs10995190 ( ZNF365) rs704010 ZMIZ1 ), rs2380205 (10p15), rs614367 (11q13), rs1292011 (12q24), rs10771399 (12p11 near PTHLH) rs865686 (9q31.2). Methods To evaluate whether these single nucleotide polymorphisms (SNPs) are...
Background BRCA carrier identification offers opportunities for early diagnoses, targeted treatment and cancer prevention. We evaluate BRCA- detection rates in general Ashkenazi Jewish (AJ) populations across Greater London estimate time-to-detection of all identifiable carriers. Methods data from 1993 to 2014 were obtained National Health Service genetic laboratories compared with modelled predictions prevalence published literature geographical UK Office Statistics. Proportion carriers...
Objective Unselected population‐based BRCA testing provides the opportunity to apply genomics on a population‐scale maximise primary prevention for breast‐and‐ovarian cancer. We compare long‐term outcomes of and family‐history ( FH )/clinical‐criteria‐based psychological health quality life. Design Randomised controlled trial RCT ) ISRCTN 73338115) GC PPS , with two‐arms: (i) population‐screening PS ); (ii) /clinical‐criteria‐based testing. Setting North London Ashkenazi‐Jewish AJ...
<h3>Background</h3> Newer approaches to genetic counselling are required for population-based testing. We compare traditional face-to-face with a DVD-assisted approach BRCA1/2 <h3>Methods</h3> A cluster-randomised non-inferiority trial in the London Ashkenazi Jewish population. <h3>Inclusion criteria</h3> men/women >18 years; exclusion criteria: (a) known mutation, (b) previous testing and (c) first-degree relative of carrier. underwent pre-test prior Genetic Cancer Prediction through...
Genetic testing for BRCA1/2 mutations associated with hereditary breast and ovarian cancer reveals significant risk information about one's chances of developing cancer. It is important to study communication processes in families where members are undergoing genetic because the received crucial not just individual concerned but also other biological family. This investigates family test results from both informants' recipients' perspectives. A total 10 female patients 22 their relatives...
Abstract Background: Genome-wide association studies (GWAS) identified variants at 19p13.1 and ZNF365 (10q21.2) as risk factors for breast cancer among BRCA1 BRCA2 mutation carriers, respectively. We explored associations with ovarian by tumor histopathology these in carriers from the Consortium of Investigators Modifiers BRCA1/2 (CIMBA). Methods: Genotyping data 12,599 7,132 40 were combined. Results: confirmed between rs8170 [HR, 1.17; 95% confidence interval (CI), 1.07–1.27; P = 7.42 ×...
Virtual reality (VR) lends itself to communication rehabilitation by creating safe, replicable, and authentic simulated environments in which users learn practice skills. The aim of this research was obtain the views health professionals technology specialists on design characteristics usability a prototype VR application for rehabilitation.
While interplay between BRCA1 and AURKA-RHAMM-TPX2-TUBG1 regulates mammary epithelial polarization, common genetic variation in HMMR (gene product RHAMM) may be associated with risk of breast cancer mutation carriers. Following on these observations, we further assessed the link AURKA-HMMR-TPX2-TUBG1 functional module or BRCA2 Forty-one single nucleotide polymorphisms (SNPs) were genotyped 15,252 8,211 carriers subsequently analyzed using a retrospective likelihood approach. The association...
To evaluate factors affecting unselected population-based BRCA testing in Ashkenazi Jews (AJ).
This study explored the attitudes of patients with advanced cancer towards MTP and return results, prior to undergoing genomic testing within a research program.Participants were recruited as part longitudinal PiGeOn (Psychosocial Issues in Genomics Oncology) involving advanced/metastatic solid who had exhausted therapeutic options offered order identify cognate therapies. Twenty patients, selected by purposive sampling, interviewed around time they gave consent MTP. Interviews audio...
Epidemiological studies have shown an increased risk of breast cancer in obligate ataxia telangiectasia (A-T) heterozygotes. We analyzed 100 samples from young patients for mutations ataxia-telangiectasia mutated (ATM), the gene responsible autosomal recessive condition, A-T, to determine whether A-T heterozygosity predisposes such individuals develop cancer. These were selected families with a moderate or absent family history and included subset 16 radiosensitive patients. Forty-four...
Actinobacillus actinomycetemcomitans, the etiologic agent of localized juvenile periodontitis, produces a potent leukotoxin that kills human neutrophils. The production RNA can vary more than 50-fold among isolates A. and strains expressing high levels are most often found at sites periodontal disease. To assess relative contributions transcription factors promoter sequences in setting disparate found, we have undertaken classical cis/trans analyses. First, regions from moderately leukotoxic...