Publications by authors named "Hannah Musgrave"
Background: The CanRisk tool, which operationalises the Breast and Ovarian Analysis of Disease Incidence and Carrier Estimation Algorithm (BOADICEA) is used by Clinical Geneticists, Genetic Counsellors, Breast Oncologists, Surgeons and Family History Nurses for breast cancer risk assessments both nationally and internationally. There are currently no guidelines with respect to the day-to-day clinical application of CanRisk and differing inputs to the model can result in different recommendations for practice.
Methods: To address this gap, the UK Cancer Genetics Group in collaboration with the Association of Breast Surgery and the CanGene-CanVar programme held a workshop on 16 of May 2023, with the aim of establishing best practice guidelines.
Article Synopsis
- The study checked how well the BOADICEA model predicts breast cancer risk for people who carry certain gene changes (called pathogenic variants).
- They looked at information from a group of over 1,600 participants and found that the model worked really well, especially when considering family history and other risk factors.
- The results can help doctors and patients make better choices about cancer management, and the model can be accessed for free on the CanRisk website.
Article Synopsis
- The study examines the relationship between height, BMI, and weight gain with breast cancer risk in women who carry BRCA1 or BRCA2 gene variants, unlike previous research that focused on the general population.
- An analysis of 8,091 BRCA1/2 variant carriers found that taller height increases the risk of premenopausal breast cancer for BRCA2 carriers, while higher BMI in young adulthood is linked to lower risk for both BRCA1 and BRCA2 carriers.
- The findings suggest that higher BMI and weight gain are related to increased postmenopausal breast cancer risk for BRCA1 carriers, indicating that body measurements impact breast cancer risk similarly in these variant carriers as
The contribution of germline copy number variants (CNVs) to risk of developing cancer in individuals with pathogenic BRCA1 or BRCA2 variants remains relatively unknown. We conducted the largest genome-wide analysis of CNVs in 15,342 BRCA1 and 10,740 BRCA2 pathogenic variant carriers. We used these results to prioritise a candidate breast cancer risk-modifier gene for laboratory analysis and biological validation.
View Article and Find Full Text PDFPurpose: To provide precise age-specific risk estimates of cancers other than female breast and ovarian cancers associated with pathogenic variants (PVs) in and for effective cancer risk management.
Methods: We used data from 3,184 and 2,157 families in the Consortium of Investigators of Modifiers of to estimate age-specific relative (RR) and absolute risks for 22 first primary cancer types adjusting for family ascertainment.
Results: PVs were associated with risks of male breast (RR = 4.
Article Synopsis
- Lynch syndrome is a hereditary cancer syndrome linked to mutations in mismatch repair genes, increasing the risk for various cancers, especially colorectal and endometrial cancer, and recently identified as a risk factor for early-onset aggressive prostate cancer.
- The IMPACT study, an international research project, is evaluating the effectiveness of prostate-specific antigen (PSA) screening among men aged 40-69 with and without these genetic variants to determine the incidence and characteristics of prostate cancer.
- Initial findings from the first round of PSA screenings indicate differences in prostate cancer detection and characteristics between men with pathogenic variants compared to age-matched controls who do not carry these variants.
Predictive testing of minors for Huntington's disease: The UK and Netherlands experiences.
Am J Med Genet B Neuropsychiatr Genet
January 2018
A consistent feature of predictive testing guidelines for Huntington's disease (HD) is the recommendation not to undertake predictive tests on those < 18 years. Exceptions are made but the extent of, and reasons for, deviation from the guidelines are unknown. The UK Huntington's Prediction Consortium has collected data annually on predictive tests undertaken from the 23 UK genetic centers.
View Article and Find Full Text PDFIdentifying the challenges and facilitators of implementing a COPD care bundle.
BMJ Open Respir Res
December 2014
Background: Care bundles have been shown to improve outcomes, reduce hospital readmissions and reduce length of hospital stay; therefore increasing the speed of uptake and delivery of care bundles should be a priority in order to deliver more timely improvements and consistent high-quality care. Previous studies have detailed the difficulties of obtaining full compliance to bundle elements but few have described the underlying reasons for this. In order to improve future implementation this paper investigates the challenges encountered by clinical teams implementing a chronic obstructive pulmonary disease (COPD) care bundle and describes actions taken to overcome these challenges.
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