Copyright ©The Author(s) 2016.
World J Gastrointest Oncol. Apr 15, 2016; 8(4): 366-379
Published online Apr 15, 2016. doi: 10.4251/wjgo.v8.i4.366
Table 2 Frequency and consequences of common genetic mutations in pancreatic ductal adenocarcinoma
Mutation categoryFrequency in PDACEffects of mutationConsequence
Gain of function
KRAS> 95%Continuous transduction of downstream growth signals (BRAF/MAPK, PI3K/mTOR)Enhanced cell growth and survival
Loss of function
CDKN2A95%Disruption of RB1 by CDK4Uncontrolled cellular proliferation
TP5375%-85%Impaired DNA damage repair, loss of cell cycle checkpoint activationChromosomal instability, aneuploidy
DPC4/SMAD450%Loss of inhibition of TGF-βLoss of cell growth inhibition
BRCA26%-17%Impaired DNA damage repair by homologous recombination, loss of cell-cycle checkpoint activationGenomic instability
PALB21%-3%Impaired BRCA2 functionGenomic instability