Tumor Suppressor Genes Flashcards by Abby Frederickson | Brainscape

Q

Tumor suppressors

A

Loss of function = increased cancer risk

Both alleles must be lost for expression of disease

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Q

APC

A

Colorectal cancer (associated with FAP)

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Q

BRCA1/2

A

Breast and ovarian cancer

DNA repair protein

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Q

CPD4/SMAD4

A

Pancreatic cancer

DPC = Deleted in Pancreatic Cancer

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Q

DCC

A

Colon cancer

DCC = Deleted in Colon Cancer

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Q

MEN1

A

MEN type I

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Q

NF1

A

NeuroFibromatosis type 1

RAS GTPase activating protein (neurofibromin)

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Q

NF2

A

NeuroFibromatosis type 2

Merlin (schwannomin) protein

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Q

p16

A

Melanoma

Cyclin-dependent kinase inhibitor 2A

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Q

p53

A

Most human cancers
Li-Fraumeni syndrome

Transcription factor for p21, blocks G1–>S phase

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Q

PTEN

A

Breast, prostate, endometrial cancer

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Q

Rb

A

Retinoblastoma
Osteosarcoma

Inhibits E2F, blocks G1–>S phase

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Q

TSC1

A

Tuberous sclerosis

Hamartin protein

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Q

TSC2

A

Tuberous sclerosis

Tuberin protein

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Q

VHL

A

Von Hippel-Lindau disease

Inhibits hypoxia inducible factor 1a

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Q

WT1/2

A

Wilms Tumor - nephroblastoma