Using Family History Data to Improve the Power of Association Studies: Application to Cancer in UK Biobank.

In large cohort studies the number of unaffected individuals outnumbers the number of affected individuals, and the power can be low to detect associations for outcomes with low prevalence. We consider how including recorded family history in regression models increases the power to detect associations between genetic variants and disease risk. We show theoretically and using Monte-Carlo simulations that including a family history of the disease, with a weighting of 0.

Polygenic score distribution differences across European ancestry populations: implications for breast cancer risk prediction.

Background: The 313-variant polygenic risk score (PRS) provides a promising tool for clinical breast cancer risk prediction. However, evaluation of the PRS across different European populations which could influence risk estimation has not been performed.

Methods: We explored the distribution of PRS across European populations using genotype data from 94,072 females without breast cancer diagnosis, of European-ancestry from 21 countries participating in the Breast Cancer Association Consortium (BCAC) and 223,316 females without breast cancer diagnosis from the UK Biobank.

Comprehensive adolescent healthcare transition program for congenital adrenal hyperplasia: A quality improvement initiative.

Background And Significance: Congenital adrenal hyperplasia (CAH) is a genetic condition impairing adrenal steroid production, requiring lifelong steroid replacement, leading to decreased quality of life and a shortened lifespan. Preparing and supporting adolescents with CAH to develop health-related knowledge, skills, and decision-making during the pediatric-to-adult healthcare transition (HCT) is a priority. Many adolescents with CAH do not receive adequate HCT and do not attend follow-up care after transfer to an adult setting.

Evaluating the performance of the BOADICEA model in predicting 10-year breast cancer risks in UK Biobank.

Background: The BOADICEA model predicts breast cancer risk using cancer family history, epidemiological and genetic data. We evaluated its validity in a large prospective cohort.

Methods: We assessed model calibration, discrimination and risk classification ability in 217,885 women (6,838 incident breast cancers) aged 40-70 years old of self-reported White ethnicity with no previous cancer from the UK Biobank.

Assessing proximal humerus cortical bone thickness for total shoulder arthroplasty: A cadaveric study.

Background: In reverse total shoulder arthroplasty, a humeral osteotomy is typically performed at the anatomic neck. The quality and quantity of cancellous and cortical bone impacts sizing of implants. Little-to-no information exists characterizing the transition of this bone quality at this location.