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12 Cards in this Set

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Tumor suppressor genes: Loss of function leads to cancer.

How many alleles need to be damaged?
Both alleles must be lost for expression of disease.
Rb (13q)

Rb gene product blocks G1 --> S phase of the cell cycle
Retinoblastoma, osteosarcoma
p53 (17p)


p53 gene product blocks G1 --> S phase of the cell cycle
Most human cancers, Li-Fraumeni Syndrome
BRCA1 (17q)

DNA Repair protein
Breast and ovarian cancer
BRCA2 (13q)

DNA Repair protein
Breast Cancer
p16 (9p)
Melanoma
APC (5q)
Colorectal cancer

-associated with FAP
WT1 (11p)
Wilms' Tumor

WT1 = Wilms' Tumor 1
NF1 (17q)
Neurofibromatosis type 1
NF2 (22q)
Neurofibromatosis type 2

Neurofibromatosis type 2 = chromosome 22
DPC (18q)
Pancreatic Cancer

DPC = Deleted in Pancreatic Cancer
DCC (18q)
Colon cancer

DCC = Deleted in Colon Cancer