FA tumor suppressor genes Flashcards
Tumor suppressor genes loss of function increases caner risk;
both alleles must be lost for expression of disease
APC gene
Colorectal cancer (associated with FAP)
BRCA1
Breast and ovarian cancer; DNA repair protein
BRCA2
Breast and ovarian cancer; DNA repair protein
CPD4/SMAD4
Pancreatic Cancer; DPC - Deleted in Pancreatic Cancer
DCC
Colon Cancer; DCC Deleted in Colon Cancer
MEN1
MEN type 1
NF1
Neurofibromatosis type 1; RAS GTPase activating protein (neurofibromin)
NF2
Neurofibromatosis type 2; Merlin (schwannomin) protein
p16
Melanoma; Cyclin-dependent kinase inhibitor 2A
p53
Most human cancers, Li-Fraumeni syndrome; Transciption factor for p21, blocks G1-S phase
PTEN
Breast, Prostate, Endometrial
RB
RetinoBlastoma, osteosarcoma; Inhibits E2F; blocks G1-S phase
TSC1
Tuberous sclerosis; Hamartin protein
TSC2
Tuberous sclerosis; Tuberin protein