Identification of new Wilms tumour predisposition genes: an exome sequencing study.

ABSTRACT: BACKGROUND:Wilms tumour is the most common childhood renal cancer and is genetically heterogeneous. While several Wilms tumour predisposition genes have been identified, there is strong evidence that further predisposition genes are likely to exist. Our study aim was to identify new predisposition genes for Wilms tumour. METHODS:In this exome sequencing study, we analysed lymphocyte DNA from 890 individuals with Wilms tumour, including 91 affected individuals from 49 familial Wilms tumour pedigrees. We used the protein-truncating variant prioritisation method to prioritise potential disease-associated genes for further assessment. We evaluated new predisposition genes in exome sequencing data that we generated in 334 individuals with 27 other childhood cancers and in exome data from The Ca

SUBMITTER: Mahamdallie S 

PROVIDER: S-EPMC6472290 | biostudies-literature | 2019 May

REPOSITORIES: biostudies-literature