A5074656959- Cancer Genomics and Diagnostics
- Genetic factors in colorectal cancer
- DNA Repair Mechanisms
- Skin Protection and Aging
- Drug-Induced Adverse Reactions
- Genomics and Rare Diseases
- Cancer and Skin Lesions
- Mast cells and histamine
- Dermatologic Treatments and Research
- Sarcoidosis and Beryllium Toxicity Research
- Lung Cancer Treatments and Mutations
- Autoimmune and Inflammatory Disorders
- Acne and Rosacea Treatments and Effects
- melanin and skin pigmentation
- Endoplasmic Reticulum Stress and Disease
- Autoimmune Bullous Skin Diseases
- Mental Health via Writing
- Cutaneous Melanoma Detection and Management
- Peripheral Neuropathies and Disorders
- Oral Health Pathology and Treatment
- Hidradenitis Suppurativa and Treatments
- Child and Adolescent Health
- Genetic and rare skin diseases.
- Molecular Biology Techniques and Applications
- Vascular Tumors and Angiosarcomas
Hutchison/MRC Research Centre
2020-2024
St John's Hospital
2014-2024
Guy's and St Thomas' NHS Foundation Trust
2016-2023
Cancer Institute (WIA)
2023
University of Cambridge
2019-2022
Cancer Research UK Cambridge Center
2022
Guy's Hospital
2022
Office of Multidisciplinary Activities
2021
King's College Hospital
2017-2021
MRC Cancer Unit
2020
Whole-genome sequencing (WGS) permits comprehensive cancer genome analyses, revealing mutational signatures, imprints of DNA damage and repair processes that have arisen in each patient's cancer. We performed signature analyses on 12,222 WGS tumor-normal matched pairs, from patients recruited via the UK National Health Service. contrasted our results to two independent datasets, International Cancer Genome Consortium (ICGC) Hartwig Foundation, involving 18,640 cancers total. Our add 40...
“Mutational signatures” are patterns of mutations that report DNA damage and subsequent repair processes have occurred. Whole-genome sequencing (WGS) can provide additional information to standard diagnostic techniques identify therapeutic targets. A 32-yr-old male with xeroderma pigmentosum developed metastatic angiosarcoma was unresponsive three lines conventional sarcoma therapies. WGS performed on his primary cancer revealing a hypermutated tumor, including clonal ultraviolet...
Xeroderma pigmentosum (XP) is caused by defective nucleotide excision repair of DNA damage. This results in hypersensitivity to ultraviolet light and increased skin cancer risk, as sunlight-induced photoproducts remain unrepaired. However, many XP patients also display early-onset neurodegeneration, which leads premature death. The mechanism neurodegeneration unknown. Here, we investigate using pluripotent stem cells derived from healthy relatives, performing functional multi-omics on...
Abstract The mechanisms that underpin how insertions or deletions (indels) become fixed in DNA have primarily been ascribed to replication-related and/or double-strand break (DSB)-related processes. Here, we introduce a method evaluate indels, orientating them relative gene transcription. In so doing, reveal number of surprising findings: First, there is transcriptional strand asymmetry the distribution mononucleotide repeat tracts reference human genome. Second, strong indels across 2,575...
Xeroderma pigmentosum (XP), a rare disease with defects in DNA repair genes, has >1,000-fold increased risk of ultraviolet-induced skin cancers. Immune checkpoint inhibitors (ICIs) are used for treating cancers large numbers mutations but may also promote adverse events (AEs). Deficient XP patients lead to mutations, leading enhanced efficacy cancer response or, alternatively, AE ICI. We sought compare the and ICI metastatic or unresectable that ICI-treated general population.In this...
Abstract Photodermatoses comprise a heterogeneous group of disorders characterized by abnormal skin responses following physiological exposure to solar radiation. Previous investigations have established that photodermatoses are associated with significant psychological morbidity and poor health-related quality life (HRQoL), although few studies quantified this phenomenon in large patient cohorts. Therefore, the aim study was perform cross-sectional evaluation patient-reported HRQoL tertiary...
We present a 21-year-old HIV-negative Somalian male who was diagnosed with an immunohistochemically proven human herpes virus 8 (HHV8)-positive primary penile Karposi’s Sarcoma (KS). He treated local surgery and remained in complete clinical remission for 18 months. This is the first case of heterosexual teenage young adult (TYA) patient KS without history sexual intercourse. provides evidence that may be transmitted through routes other than transmission.