D. Gareth Evans

Early-adulthood body mass index, mammographic density and post-menopausal breast cancer risk: a mediation analysis

Benoit Jauniaux, Michelle Harvie, Matthew Sperrin, Susan Astley et autres

BACKGROUND: To explore potential mechanistic pathways and inform prevention strategies, this study examined whether mammographic density (MD) mediates the inverse association between higher early-adulthood body mass index (BMI) and lower post-menopausal breast cancer risk. METHODS: We analysed data from 33,816 post-menopausal women …

gb (code pays fourni par la source)

CanVar-UK: A collaborative platform for germline interpretation in cancer susceptibility genes

Charlie F Rowlands, Subin Choi, Sophie Allen, Zeid Kuzbari et autres

gb, au, ie (code pays fourni par la source)

Direct to Patient Testing at Cancer Diagnosis for Precision Prevention-2 (DETECT-2): protocol for a two-arm equivalence UK multi-centre randomised controlled trial evaluating uptake of genetic testing

Caitlin T. Fierheller, Priyanka Deshmukh, Ashwin Kalra, Hamda Mohamed et autres

Background Mainstreaming ovarian, endometrial, and colorectal cancer patients, in the context of genetic-testing at cancer diagnosis, involves pre-test counselling, consent, and return of results by the clinical cancer team, which uses significant clinician time and resources. Alternative implementation strategies might be more …

gb, us (code pays fourni par la source)

RNA splicing evidence enables robust classification of BRCA1 exon 18 variants: Results from the ENIGMA consortium

Joanna Domènech-Vivó, Hélène Tubeuf, Romy L.S. Mesman, Aurélie Drouet et autres

ps, es, fr, nl, gb, be, us, cz, au (code pays fourni par la source)

Risk of breast cancer after ovarian cancer in germline BRCA1/2 heterozygotes

Robert David Morgan, Emma Roisin Woodward, D. Gareth Evans

Breast cancer risk after ovarian cancer in germline BRCA1/2 heterozygotes remains uncertain, with a recent large multicentre international study reporting lower-than-expected incidence in the first decade after ovarian cancer diagnosis (Apostol et al. 2026). We re‑evaluated our previously published regional cohort of …

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Early motor development in ADHD: monogenic and polygenic trajectories using NF1 as a model

Sadali Wanniarachchi, Jannath Begum Ali, Paola Piza Martinez, Szilvia Linnert et autres

Abstract Background ADHD is often accompanied by motor difficulties in childhood, yet little is known about how these traits emerge in early life or the genetic pathways that contribute to their development. Studying infants with an elevated familial likelihood of ADHD (EL-ADHD) …

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Health-related quality of life after risk-reducing hysterectomy: a randomised vignette study

Samuel Oxley, Amanda Dibden, Tia Whenham, Wei Xia et autres

BACKGROUND: Risk-reducing hysterectomy (RRH) is the most effective endometrial cancer preventive strategy. Understanding health-related quality-of-life using health-related utility-scores (HRUS) is essential for counselling, shared decision-making, and informing health-economic evaluations of endometrial cancer prevention. This study aimed to determine HRUS for premenopausal RRH, …

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Clinical implementation of polygenic risk scores—updates on ancestry-adjusted PRS and their use in practice

Eleanor Roberts, Nicola Flaum, D. Gareth Evans

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Implementing a Risk-Stratified National Breast Screening Programme in the United Kingdom: A Model-Based Cost-effectiveness Analysis

Stuart James Wright, Joe Hilton, G Rogers, Ewan Gray et autres

BACKGROUND: Risk-stratified breast screening, where women are offered different screening intervals based on their breast cancer risk, has been proposed as a way to improve the benefits of screening in the United Kingdom National Breast Screening Programme (UK-NBSP). The aim of this …

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Reply to: Role of Risk-Reducing Bilateral Mastectomy in BRCA1 and BRCA2 Pathogenic Variant Carriers

Ashu Gandhi, Sacha Jon Howell, D. Gareth Evans

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Routine germline genetic testing in 3552 unselected NHS breast cancer patients: evidence informing testing criteria and implementation of a ‘BRCA-DIRECT’ mainstreaming pathway

Bethany Torr, Lea Mansour, Caitlin T. Fierheller, Monica Hamill et autres

In the North Thames Mainstreaming of Breast Cancer Genetic Testing (NT-MBGT) programme, we piloted testing for breast cancer susceptibility genes (BCSGs) in unselected breast cancer (BC) patients, deploying a clinician-light 'BRCA-DIRECT' mainstreaming pathway; this included home saliva-testing and consent with postal return, …

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Optimizing Reporting and Outreach for Surveillance and Risk-Reducing Surgeries for Cancer Genetic Predisposition: Findings of a Workshop Organized by the International Cascade Consortium

Bardha Citaku-Qerimi, Hanna Yttring, Sofia E. Andersson, Margreet G.E.M. Ausems et autres

INTRODUCTION: Improving access to genetic testing has increased the number of individuals identified with cancer genetic predisposition. Hereditary breast and ovarian cancer (HBOC) and Lynch syndrome (LS) are key examples of high-risk hereditary cancer syndromes. Ensuring that carriers of germline pathogenic/likely pathogenic …

ch, se, nl, il, us, it, kr, dk, gb, sg (code pays fourni par la source)