Zsofia Kote-Jarai

TL;DR: This work developed REVEL (rare exome variant ensemble learner), an ensemble method for predicting the pathogenicity of missense variants on the basis of individual tools: MutPred, FATHMM, VEST, PolyPhen, SIFT, PROVEAN, MutationAssessor, LRT, GERP, SiPhy, phyloP, and phastCons.

TL;DR: In this article, the existence of polyclonal seeding in human malignancy and the clonal relationship among different metastases in the context of androgen-deprived metastatic prostate cancer was established.

TL;DR: A genome-wide association study using blood DNA samples from 1,854 individuals with clinically detected prostate cancer diagnosed at ≤60 years or with a family history of disease, and 1,894 population-screened controls with a low prostate-specific antigen (PSA) concentration (<0.5 ng/ml) identified seven loci associated with prostate cancer on chromosomes 3, 6, 7, 10, 11, 19 and X.

TL;DR: It is confirmed that BRCA1/2 mutations confer a more aggressive PCa phenotype with a higher probability of nodal involvement and distant metastasis and this should be considered for tailoring clinical management of these patients.

TL;DR: A large meta-analysis combining genome-wide and custom high-density genotyping array data identifies 63 new susceptibility loci for prostate cancer, enhancing fine-mapping efforts and providing insights into the underlying biology of PrCa1.