Tumor Suppressor Genes Flashcards by Jenn Sternberg | Brainscape

Q

APC

A

Colorectal cancer (associated with FAP)

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Q

BRCA1 & BRCA2

A

Breast & 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 1

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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 & WT2

A

Wilms Tumor (nephroblastoma)

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Q

Tumor Suppressor Genes

A

Loss of function leads to increased cancer risk

Both alleles must be deleted