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. Author manuscript; available in PMC: 2012 Sep 21.
Published in final edited form as: Trends Pharmacol Sci. 2011 Apr 27;32(8):487–494. doi: 10.1016/j.tips.2011.03.010

Table 2.

Common genetic variations in Notch Pathway genes

Gene Variant Function Rate Ref.
NOTCH1 Mutation Activation (T-ALL) 60% [54]
NOTCH1 Mutation Response to GSI and prognosis (NSCLC) 12% [55]
NOTCH2 Mutation Unknown (Breast Cancer) 2.1% [57]
NOTCH3 Mutation Unknown(Colorectal Cancer) 2% [57]
NOTCH3 Amplification Response to GSI (Ovarian Cancer) 19.5% [56]
NOTCH2 SNP Increased cancer risk (Breast Cancer) 16.8% [58]
HEY1 SNP Response to p53 activators 1% [59]

We selected both single nucleotide polymorphisms (SNP) and somatic alterations (gene amplifications, mutations) affecting cancer cell behavior. Rate refers to mutation rate in cancer samples, or minor allele frequency in Caucasians (SNP). T-ALL, T-cell acute lymphoid leukemia; NSCLC, non-small cell lung cancer; GSI, γ-secretase inhibitor.