Ena-DATASET-ICR-PTGT-15-10-2018-17:54:40:362-3 - samples
Ontology highlight
ABSTRACT:
PROVIDER: EGAD00001004396 | EGA |
REPOSITORIES: EGA
Publications
Rare disruptive mutations and their contribution to the heritable risk of colorectal cancer.
Chubb Daniel D Broderick Peter P Dobbins Sara E SE Frampton Matthew M Kinnersley Ben B Penegar Steven S Price Amy A Ma Yussanne P YP Sherborne Amy L AL Palles Claire C Timofeeva Maria N MN Bishop D Timothy DT Dunlop Malcolm G MG Tomlinson Ian I Houlston Richard S RS
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]
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