For example, somatic mutations were identified in the core promoter of PRKAR2B, and germline mutations were identified in the core promoter of SMUG1 and GAB2. Gene ontological and pathway analysis showed that these core promoter mutated genes are oncogenic through affecting multiple functional pathways: SMUG1 participates in DNA repair (KEGG: hsa03410); GAB2 contributes to cellular differentiation, immunity and cancer (KEGG: ko05220); PRKAR2B regulates mitotic cell cycle transition and metabolism (KEGG: hsa04910). The gene discussed is GAB2; the disease is cancer.