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15 Cards in this Set
- Front
- Back
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What are tumor suppressor genes? |
Genes with products involved in DNA repair, cellular differentiation, checkpoint control of the cell cycle, regulation of transcription factors.
Loss of function leads to increased cancer risk. Need TWO HITS |
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APC |
a/w colorectal cancer |
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BRCA1/2 |
a/w breast and ovarian cancer
codes for DNA ds break repair protein |
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CPD4/SMAD4 |
a/w pancreatic cancer
codes for DPC (deleted in pancreatic cancer) |
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DCC |
a/w colon cancer
codes for DCC (deleted in colon cancer) |
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MEN1 |
a/w MEN 1 |
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NF1 |
a/w neurofibromatosis 1
codes for RAS GTPase activating protein (neurofibromin) |
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NF2 |
a/w neurofibromatosis 2
codes for merlin protein |
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p16 |
a/w melanoma
codes for cyclin-dependent kinase inhibitor 2A |
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p53 |
a/w most human cancers - Li Fraumeni Syndrome
Codes for transcription factor for p21 and blocks the G1-S transition |
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PTEN |
a/w breast, prostate and endometrial cancer |
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Rb |
a/w retinoblastoma and osteosarcoma
inhibits E2F and blocks the G1-S transition |
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TSC1/2 |
a/w tuberous sclerosis
1 codes for hamartin protein
2 codes for tuberin protein |
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VHL |
a/w Von Hippel-Lindau disease
inhibits hypoxia inducible factor 1a |
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WT1/WT2 |
a/w Wilms Tumor (nephroblastoma) |
