Breast Cancer Res Treat
January 2025
Background: In New Zealand, BreastScreen Aotearoa (BSA), a biennial national breast screening programme, was implemented in 1998. This study examines the incidence trends of ductal carcinoma in situ (DCIS) in New Zealand women from 1999 to 2022.
Methods: All women with a primary diagnosis of DCIS over the 24-year study period were identified from the New Zealand Cancer Registry and BSA records.
High-grade serous ovarian carcinoma (HGSOC) has a significant hereditary component, only half of which is explained. Previously, we performed germline exome sequencing on BRCA1 and BRCA2-negative HGSOC patients, revealing three proposed and 43 novel candidate genes enriched with rare loss-of-function variants. For validation, we undertook case-control analyses using genomic data from disease-free controls.
View Article and Find Full Text PDFThe effectiveness and cost-effectiveness of genetic testing for hereditary breast and ovarian cancer largely rely on the identification and clinical management of individuals with a pathogenic variant prior to developing cancer. Simulation modelling is commonly utilised to evaluate genetic testing strategies due to its ability to synthesise collections of data and extrapolate over long time periods and large populations. Existing genetic testing simulation models use simplifying assumptions for predictive genetic testing and risk management uptake, which could impact the reliability of their estimates.
View Article and Find Full Text PDFBackground: There is a need for improved understanding of why 20-30% of individuals with anorexia nervosa (AN) develop a severe and enduring form of illness (SE-AN). Previously, we reported differences in proactive inhibition (a pre-emptive slowing of responses) in individuals with AN compared to healthy controls (after controlling for intolerance of uncertainty). The present study is a preliminary exploration of proactive inhibition in which we compared women with SE-AN with healthy comparison (HC) women and explored its association with restrictive/avoidant eating behaviours.
View Article and Find Full Text PDFBackground: The transition of young people with a disability or a chronic health condition, from paediatric to adult-focused health and social care services, in Scotland, is known to be difficult. There is a significant body of evidence to suggest that a transition should start early, be holistic and inclusive, as well as structured to build essential capabilities and promote resilience. The nurse-led project, reported here, created a playful mechanism for meaningful interaction between young people, families and healthcare professionals.
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