Case Report
Copyright ©The Author(s) 2016.
World J Gastroenterol. Dec 28, 2016; 22(48): 10680-10686
Published online Dec 28, 2016. doi: 10.3748/wjg.v22.i48.10680
Table 1 Alterations observed for Case 1 in the short list of clinically relevant genes
GeneNucleotide variationProtein variationOriginImpact
AKT1c.235C>AGln79LysSomaticActivating
CCNE1c.1022C>TThr341MetSomaticUnknown
CHEK2c.478A>GArg117GlyConstitutiveLikely pathogenic
CUL2c.70C>TPro24SerSomaticUnknown
ERCC6c.4179G>AMet1393IleSomaticUnknown
PMS2c.1531A>GThr511AlaConstitutiveBenign
SMAD4c.1091T>ALeu364XSomaticLoss of function
SUFUc.1211T>CMet404ThrConstitutiveUnknown