Genetic analyses of DNA repair pathway associated genes implicate new candidate cancer predisposing genes in ancestrally defined ovarian cancer cases
Researchers investigated families with a history of ovarian cancer that couldn’t be explained by known genetic risk factors. Using healthy controls from CARTaGENE, they applied a targeted gene approach and found rare genetic variants in DNA repair pathway genes, particularly in ERCC5, EXO1, FANCC, NEIL1, and NTHL1, in a significant portion of these families.
Negative Association of Smoking History With Clinically Manifest Cardiac Sarcoidosis: A Case-Control Study
Researchers aimed to explore whether smoking was associated with a specific sarcoidosis phenotype, primarily in Caucasian patients with clinically manifest cardiac sarcoidosis (CS). Ontario Health Study participants’ data were used as controls, while the cases came from the Cardiac Sarcoidosis Multi-Center Prospective Cohort Study. They found a strong association between smoking history and clinically manifest CS, but more research is required to understand whether these associations have therapeutic potential.
Association of essential tremor with novel risk loci: A genome-wide association study and meta-analysis
This study revealed five genome-wide significant loci associated with essential tremor (ET), one of the most common movement disorders. The researchers’ findings suggest that common genetic variation partly explains ET’s heritability.