A5078535536- BRCA gene mutations in cancer
- Cancer Genomics and Diagnostics
- Genetic factors in colorectal cancer
- Genomics and Rare Diseases
- Breast Cancer Treatment Studies
- Colorectal Cancer Screening and Detection
- Genomic variations and chromosomal abnormalities
- Estrogen and related hormone effects
- Ovarian cancer diagnosis and treatment
- Childhood Cancer Survivors' Quality of Life
- CRISPR and Genetic Engineering
- Surgical Simulation and Training
- PARP inhibition in cancer therapy
- HER2/EGFR in Cancer Research
- Renal and related cancers
- Innovations in Medical Education
- Pancreatic and Hepatic Oncology Research
- Thyroid Cancer Diagnosis and Treatment
- Anatomy and Medical Technology
- Pituitary Gland Disorders and Treatments
- Genetic Associations and Epidemiology
- Diversity and Career in Medicine
- Prenatal Screening and Diagnostics
- Global Cancer Incidence and Screening
- RNA modifications and cancer
Royal Marsden NHS Foundation Trust
2017-2025
Royal Marsden Hospital
2017-2025
Children's Health Ireland at Crumlin
2015-2024
Our Lady's Hospital
2015-2024
Institute of Cancer Research
2017-2023
Cancer Genetics (United States)
2022-2023
Institute of Cytology and Genetics
2022
Institute of Cancer Research
2022
National Health Service
2022
University Hospital Galway
2011-2020
The use of chemotherapy in node-negative, (O)Estrogen Receptor (ER)-positive breast cancer has changed significantly since the introduction Oncotype DX to determine systemic recurrence risk based on tumour genomic signature.This study aims toA cohort was undertaken, including consecutive patients with early ER-positive diagnosed between 2006 and May 2013, a period prospective clinical trial (Trial Assigning Individualised Options for Treatment (TAILORx)) recruitment. Data were collected...
DICER1 mutations (somatic or germline) are associated with a variety of uncommon neoplasms including cervical and genitourinary embryonal rhabdomyosarcoma (ERMS). We report primary ovarian 2 fallopian tube ERMS occurring in 60-, 13-, 14-year-olds, respectively. The 3 exhibited similar morphologic appearance being polypoid containing edematous hypocellular areas hypercellular foci composed small cells scant cytoplasm exhibiting rhabdomyoblastic differentiation (desmin, myogenin, myoD1...
Multiplex assays of variant effect (MAVEs) provide promising new sources functional evidence, potentially empowering improved classification germline genomic variants, particularly rare missense which are commonly assigned as VUS (variants uncertain significance). However, paradoxically, quantification clinically applicable evidence strengths for MAVEs requires construction truthsets comprising variants already robustly classified pathogenic and benign. In this study, we demonstrate how...
Summary The implementation of whole genome sequencing and large somatic gene panels in haematological malignancies is identifying an increasing number individuals with either potential or confirmed germline predisposition to malignancy. There are currently no national international best practice guidelines respect management carriers such variants their at‐risk relatives. To address this gap, the UK Cancer Genetics Group (UKCGG), CanGene‐CanVar NHS England Haematological Oncology Working...
Germline predisposition to haematological cancers is increasingly being recognised. Widespread adoption of high-throughput and whole genome sequencing identifying large numbers causative germline mutations. Constitutional pathogenic variants in six genes (DEAD-box helicase 41 [DDX41], ETS variant transcription factor 6 [ETV6], CCAAT enhancer binding protein alpha [CEBPA], RUNX family 1 [RUNX1], ankyrin repeat domain containing 26 [ANKRD26] GATA 2 [GATA2]) are particularly significant...
Reflex immunohistochemistry (rIHC) for mismatch repair (MMR) protein expression can be used as a screening tool to detect Lynch Syndrome (LS). Increasingly the repair-deficient (dMMR) phenotype has therapeutic implications. We investigated pattern and consequence of testing dMMR in three Irish Cancer Centres (CCs). CRC databases were analyzed from January 2005-December 2013. CC1 performs IHC upon physician request, CC2 implemented rIHC November 2008, CC3 been performing since 2004. The...
The distinctive features of the digital reality platforms, namely augmented (AR), virtual (VR), and mixed (MR) have extended to medical education, training, simulation, patient care. Furthermore, this technology seamlessly merges with information communication creating an enriched telehealth ecosystem. This review provides a composite overview prospects delivered using MR platform in clinical settings.
Purpose A germline microRNA binding site-disrupting variant, the KRAS-variant (rs61764370), is associated with an increased risk of developing several cancers. Because this variant most strongly ovarian cancer in patients from hereditary breast and families (HBOC), premenopausal triple negative cancer, we evaluated association women personal histories both referred to as double primary patients. Experimental Design Germline DNA was tested for (n = 232). Confirmation pathologic diagnoses, age...
BackgroundLynch Syndrome (LS) is a cancer predisposition syndrome caused by constitutional pathogenic variants in the mismatch repair (MMR) genes. To date, fragmentation of clinical and genomic data has restricted understanding national LS ascertainment outcomes, precluded evaluation NICE guidance on testing management. address this, via collaboration between researchers, National Disease Registration Service (NDRS), NHS Genomic Medicine Alliances (GMSAs), Regional Clinical Genetics...
Advances in technology have made possible Multiplex Assays of Variant Effect (MAVEs), systematically generating functional data for many thousands genetic variants. Robust clinical validation and accessible online resources MAVE previously been identified as barriers to adoption new MAVEs. We delivered a survey during the November 2024 Cancer Interpretation Group (CanVIG-UK) meeting comprising NHS scientists geneticists, received 46 responses from individuals regularly performing variant...
Background NICE Guideline NG241: identifying and managing familial genetic risk of ovarian cancer (OC) was published by the National Institute for Health Care Excellence (NICE) in March 2024. NG241 advises germline testing genes predisposing to OC unaffected individuals with an family history at different mutation likelihood thresholds depending on age sex, ranging from 2% 10% finding a pathogenic variant (GPV). Prior implementation NG241, updates NHS England Genomic Test Directory would be...
There is frequent uncertainty in both the precise quantification of risk, and application clinical interventions, designed to mitigate increased heritable colorectal cancer (CRC) susceptibility. We evaluated role a collaborative specialist multidisciplinary team meeting (MDM) for familial hereditary CRC, led by St Mark's Hospital Centre Familial Intestinal Cancer specifically supporting management uncertainty. A retrospective thematic analysis outcomes from inception June 2020 until March...
Purpose Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC) is a rare cancer susceptibility syndrome exclusively attributable to pathogenic variants in FH. This paper quantitatively weights the phenotypic context (PP4/PS4) of such very Methods We collated clinical diagnostic testing data on germline FH from 387 individuals with HLRCC 1,780 renal cancer, compared frequency 'very rare' each cohort against 562,295 population controls. generated pan-gene variant likelihood ratios...
Genetic assessment for renal cell carcinoma (RCC) 31 frequently results in an uninformative result, namely, non-identification of a recognised heritable causative genetic variant. In many these cases, there is lack the key features syndromic clinical phenotype suggestive specific hereditary condition. this scenario, it possible that either combination shared environmental and risk factors or as yet unidentified monogenetic susceptibility may be responsible RCC; thus, optimal surveillance...
Constitutional or germline pathogenic variants (GPVs) in protection of telomeres 1 (POT1 ) are associated with a variety tumours resulting the recognition POT1-tumour predisposition syndrome (POT1-TPDS). These may include cutaneous melanoma, angiosarcoma, haematological malignancy and brain tumours. Due to rarity POT1 GPVs limited available data, overall lifetime cancer risks for individuals POT1-TPDS unclear. Furthermore, there is scant evidence support role surveillance early detection...