Wei Shen, Ph.D.

The purpose of this study is to evaluate the performance characteristics of RNA sequencing. To investigate the utility of RNA analysis in diagnosis of patients with cancer predisposition syndromes and collection of patient samples with pathogenic or likely pathogenic variants in hereditary cancer predisposition genes (i.e., collection of positive controls) is required for above studies.

The purpose of this study is to identify underlying genetic causes of germline MLH1 promoter hypermethylation. Specifically, to identify causative genetic alterations in families with germline MLH1 promoter hypermethylation using whole genome sequencing (WGS).