Exome sequencing in 51 early onset non-familial CRC cases.

ABSTRACT:

Background

Colorectal cancer (CRC) cases with an age of onset <40 years suggests a germline genetic cause. In total, 51 simplex cases were included to test the hypothesis of CRC as a mendelian trait caused by either heterozygous autosomal dominant or bi-allelic autosomal recessive pathogenic variants.

Methods

The cohort was whole exome sequenced (WES) at 100× coverage. Both a dominant- and recessive model were used for searching predisposing genetic factors. In addition, we assayed recessive variants of potential moderate risk that were enriched in our young-onset CRC cohort. Variants were filtered using a candidate cancer gene list or by selecting variants more likely to be pathogenic based on variant type (e.g., loss-of-function) or allele frequency.

Results

We iden

SUBMITTER: Thutkawkorapin J 

PROVIDER: S-EPMC6503031 | biostudies-literature | 2019 May

REPOSITORIES: biostudies-literature