A5007729908- Testicular diseases and treatments
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Sexual Differentiation and Disorders
- Medical Practices and Rehabilitation
- Epigenetics and DNA Methylation
- Stoma care and complications
- Diverticular Disease and Complications
- Veterinary Medicine and Surgery
- Multiple and Secondary Primary Cancers
- Migration, Identity, and Health
- Renal and related cancers
- Reproductive tract infections research
- Radiation Dose and Imaging
- Otolaryngology and Infectious Diseases
- Porphyrin Metabolism and Disorders
- Child and Adolescent Health
- Cancer Genomics and Diagnostics
- Ovarian cancer diagnosis and treatment
- Health, Medicine and Society
- Fungal Biology and Applications
- Multiple Myeloma Research and Treatments
- Plant Pathogens and Fungal Diseases
- Colorectal Cancer Screening and Detection
- Chronic Lymphocytic Leukemia Research
- Gastrointestinal Bleeding Diagnosis and Treatment
Institute of Cancer Research
2016-2020
University of Bristol
2015
Hôpital Nord
2006
Abstract While most testicular germ cell tumours (TGCTs) exhibit exquisite sensitivity to platinum chemotherapy, ~10% are resistant. To gain insight into the underlying mechanisms, we undertake whole exome sequencing and copy number analysis in 40 from 26 cases with platinum-resistant TGCT, combine this published genomic data on an additional 624 TGCTs. We integrate analyses for driver mutations, mutational burden, global, arm-level focal (CN) events, SNV CN signatures. Albeit preliminary...
Abstract Testicular germ cell tumour (TGCT) is the most common cancer in young men. Here we sought to identify risk factors for TGCT by performing whole-exome sequencing on 328 cases from 153 families, 634 sporadic and 1,644 controls. We search genes that are recurrently affected rare variants (minor allele frequency <0.01) with potentially damaging effects evidence of segregation families. A total 8.7% families carry disruptive mutations cilia-microtubule (CMG) as compared 0.5% controls...
Drug Prescribing for Patients with Chronic Kidney Disease in General Practice: a Cross-Sectional Study
// Chey Loveday 1 , Kevin Litchfield 1, 2 Max Levy Amy Holroyd Peter Broderick Zsofia Kote-Jarai Alison M Dunning 3 Kenneth Muir 4, 5 Julian Peto 6 Rosalind Eeles 7 Douglas F Easton 3, 8 Darshna Dudakia Nick Orr 9 Nora Pashayan 10 Reid 11 Robert A Huddart 12 Richard S Houlston and Clare Turnbull 13, 14, 15 Division of Genetics Epidemiology, The Institute Cancer Research, London, UK Translational Therapeutics Laboratory, Francis Crick Institute, Centre for Genetic Department Oncology,...
Drug Prescribing for Patients with Chronic Kidney Disease in General Practice: a Cross-Sectional Study
Drug Prescribing for Patients with Chronic Kidney Disease in General Practice: a Cross-Sectional Study
Abstract Background Testicular germ cell tumour ( TGCT ) is highly heritable but > 50% of the genetic risk remains unexplained. Epidemiological observation greater relative to brothers men with compared sons has long alluded recessively acting susceptibility factors, date none have been reported. Runs homozygosity (RoH) are a signature indicating underlying alleles and associated increased other cancer types. Objective To examine whether RoH risk. Methods We performed genome‐wide analysis...
Observational studies have suggested anthropometric traits, particularly increased height are associated with an elevated risk of testicular cancer (testicular germ cell tumour). However, there is inconsistency between study findings, suggesting the possibility influence confounding factors. To examine association traits and tumour using unbiased approach, we performed a Mendelian randomisation study. We used genotype data from genome wide totalling 5518 cases 19,055 controls. Externally...
Drug Prescribing for Patients with Chronic Kidney Disease in General Practice: a Cross-Sectional Study
La rémission histologique est un nouvel objectif thérapeutique chez les patients atteints d'une rectocolite hémorragique (RCH). L'endomicroscopie confocale par minisonde (ECM) permet examen in vivo à l'échelle microscopique de la muqueuse colique. L'objectif cette étude d'évaluer l'efficacité l'ECM pour déterminer présence inflammation colique au niveau des en clinique et endoscopique.