Ontology highlight
ABSTRACT:
SUBMITTER: de Voer RM
PROVIDER: S-EPMC4764646 | biostudies-literature | 2016 Feb
REPOSITORIES: biostudies-literature
de Voer Richarda M RM Hahn Marc-Manuel MM Weren Robbert D A RD Mensenkamp Arjen R AR Gilissen Christian C van Zelst-Stams Wendy A WA Spruijt Liesbeth L Kets C Marleen CM Zhang Junxiao J Venselaar Hanka H Vreede Lilian L Schubert Nil N Tychon Marloes M Derks Ronny R Schackert Hans K HK Geurts van Kessel Ad A Hoogerbrugge Nicoline N Ligtenberg Marjolijn J L MJ Kuiper Roland P RP
PLoS genetics 20160222 2
Approximately 25-30% of colorectal cancer (CRC) cases are expected to result from a genetic predisposition, but in only 5-10% of these cases highly penetrant germline mutations are found. The remaining CRC heritability is still unexplained, and may be caused by a hitherto-undefined set of rare variants with a moderately penetrant risk. Here we aimed to identify novel risk factors for early-onset CRC using whole-exome sequencing, which was performed on a cohort of CRC individuals (n = 55) with a ...[more]