Tumor Suppressor Genes

Overview

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  • Mechanism 
    • loss of function mutation in a tumor suppressor gene
      • regulate cell growth and repair damage
      • see Cell cycle topic 
    • because one functioning tumor suppressor gene copy can produce enough functioning protein to prevent neoplasia, two allele alterations needed for neoplasia  
      • two-hit model
      • note many of the inherited cancer disorders have an inherited loss of 1 copy
  • Examples
GeneAssociated TumorChromosome
APCColorectal cancer (associated with FAP)5
p16Melanoma9
WT1Wilms’ tumor11
RbRetinoblastoma and osteosarcoma 13
BRCA2Breast cancer13
NF1Neurofibromatosis type 117
BRCA1Breast and ovarian cancer 17
TP53Most human cancers and Li-Fraumeni syndrome 17
DPCPancreatic cancer (stands for deleted in pancreatic cancer)18
DCCColon cancer (stands for deleted in colon cancer)18
NF2Neurofibromatosis type 222