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
Table 2 Alterations observed for Case 2 in the short list of clinically relevant genes
GeneNucleotide variationProtein variationOriginImpact
APCc.3949G>CGlu1317GlnConstitutivePotentially Pathogenic
BRCA1c.5180G>CGly1727AlaSomaticUnknown
BRCA1c.3119G>ASer1040AsnConstitutiveSNP
BRCA1c.2521C>TArg841TrpSomaticNeutral
FGFR4c.1676G>AArg559GlnSomaticUnknown
GLI2c.1418G>AArg473HisConstitutiveUnknown
JAK2c.195A>CGlu65AspConstitutiveUnknown
JAK3c.2164G>AVal722IleConstitutiveActivating
KDRc.2159G>AArg720GlnSomaticUnknown
KRASc.35G>AGly12AspSomaticActivating
METc.2572G>AVal858MetConstitutiveUnknown
RAD51Cc.859A>GThr287AlaSomaticLoss of function
SLC28A1c.568G>TAla190SerConstitutiveSNP
SLC28A1c.1152delGVal385Ser fsX16ConstitutiveLoss of function
THRAc.454C>TArg152XSomaticLoss of function
UIMC1c.43C>TArg15TrpConstitutiveUnknown