Compound Heterozygous Variants in Pediatric Cancers: A Systematic Review.

ABSTRACT: A compound heterozygous (CH) variant is a type of germline variant that occurs when each parent donates one alternate allele and these alleles are located at different loci within the same gene. Pathogenic germline variants have been identified for some pediatric cancer types but in most studies, CH variants are overlooked. Thus, the prevalence of pathogenic CH variants in most pediatric cancer types is unknown. We identified 26 studies (published between 1999 and 2019) that identified a CH variant in at least one pediatric cancer patient. These studies encompass 21 cancer types and have collectively identified 25 different genes in which a CH variant occurred. However, the sequencing methods used and the number of patients and genes evaluated in each stu

SUBMITTER: Miller DB 

PROVIDER: S-EPMC7249936 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature