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Classification of variants of reduced penetrance in high-penetrance cancer susceptibility genes: Framework for genetics clinicians and clinical scientists by CanVIG-UK (Cancer Variant Interpretation Group-UK).
Genet Med
October 2024
Division of Genetics and Epidemiology, The Institute of Cancer Research, London, United Kingdom; The Royal Marsden NHS Foundation Trust, Fulham Road, London, United Kingdom. Electronic address:
Purpose: Current practice is to report and manage likely pathogenic/pathogenic variants in a given cancer susceptibility gene as though having equivalent penetrance, despite increasing evidence of intervariant variability in risk associations. Using existing variant interpretation approaches, largely based on full-penetrance models, variants in which reduced penetrance is suspected may be classified inconsistently and/or as variants of uncertain significance. We aimed to develop a national consensus approach for such variants within the Cancer Variant Interpretation Group UK (CanVIG-UK) multidisciplinary network.
View Article and Find Full Text PDFPostoperative anaemia increases unplanned readmission: an international prospective cohort study of patients undergoing major abdominal surgery.
Br J Surg
July 2024
The University of Western Australia, 35 Stirling Highway, Perth WA 6009, Australia.
Outcomes Following Vascular and Endovascular Procedures Performed During the First COVID-19 Pandemic Wave.
EJVES Vasc Forum
September 2024
Cambridge University Hospitals, Cambridge, UK.
Objective: The first COVID-19 pandemic wave was a period of reduced surgical activity and redistribution of resources to only those with late stage or critical presentations. This Vascular and Endovascular Research Network COVID-19 Vascular Service (COVER) study aimed to describe the six-month outcomes of patients who underwent open surgery and or endovascular interventions for major vascular conditions during this period.
Methods: In this international, multicentre, prospective, observational study, centres recruited consecutive patients undergoing vascular procedures over a 12-week period.
Single-Hit and Multi-hit PIK3CA Short Variant Genomic Alterations in Clinically Advanced Prostate Cancer: A Genomic Landscape Study.
Target Oncol
November 2024
Department of Urology, Upstate Medical University, 750 East Adams St., Syracuse, NY, 13210, USA.
Background: Tumors harboring two or more PIK3CA short variant (SV) ("multi-hit") mutations have been linked to improved outcomes with anti-PIK3CA-targeted therapies in breast cancer. The landscape and clinical implications of multi-hit PIK3CA alterations in clinically advanced prostate cancer (CAPC) remains elusive.
Objective: To evaluate the genomic landscape of single-hit and multi-hit PIK3CA genomic alterations in CAPC.
Critical care unit bed availability and postoperative outcomes: a multinational cohort study.
Anaesthesia
November 2024
National Insitute for Health Research University College London Hospitals Biomedical Research Centre, University College, London, UK.
Background: Critical care beds are a limited resource, yet research indicates that recommendations for postoperative critical care admission based on patient-level risk stratification are not followed. It is unclear how prioritisation decisions are made in real-world settings and the effect of this prioritisation on outcomes.
Methods: This was a prespecified analysis of an observational cohort study of adult patients undergoing inpatient surgery, conducted in 274 hospitals across the UK and Australasia during 2017.
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