Dataset Information
ICR MOPOPGEN UK exome control series
Ontology highlight
ABSTRACT:
PROVIDER: EGAS00001001667 | EGA |
REPOSITORIES: EGA
Publications
Rare disruptive mutations and their contribution to the heritable risk of colorectal cancer.
Nature communications 20160622
Colorectal cancer (CRC) displays a complex pattern of inheritance. It is postulated that much of the missing heritability of CRC is enshrined in high-impact rare alleles, which are mechanistically and clinically important. In this study, we assay the impact of rare germline mutations on CRC, analysing high-coverage exome sequencing data on 1,006 early-onset familial CRC cases and 1,609 healthy controls, with additional sequencing and array data on up to 5,552 cases and 6,792 controls. We identif ...[more]
