Douglas Stewart

Nov 5, 2024 | nature.com | Rachel Hendricks |Jung Kwon Kim |Jeremy S Haley |Jérémy Haley |Douglas Stewart

AbstractIt is estimated that 10% of individuals with a myeloid malignancy carry a germline susceptibility. Using the genome-first approach, in which individuals were ascertained on genotype alone, rather than clinical phenotype, we quantified the prevalence and penetrance of pathogenic germline variants in eight myeloid malignancy predisposition (gMMP) genes.

Mar 25, 2023 | nature.com | Douglas Stewart

AbstractBackgroundCostello syndrome (CS) is a cancer-predisposition disorder caused by germline pathogenic variants in HRAS. We conducted a systematic review using case reports and case series to characterise cancer risk in CS. MethodsWe conducted a systematic review to identify CS cases to create a retrospective cohort.