Tumor suppressor genes Flashcards

1
Q

APC gene product + associated neoplasm

A

Negative regulator of B-catenin/WNT pathway

CRC, associated with FAP

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2
Q

BRCA1/BRCA2 gene product + associated neoplasm

A

DNA repair protein (repairs double strand breaks)

Breast, ovarian and pancreatic cancer

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3
Q

NF1 gene product + associated neoplasm

A

Neurofibromin (Ras GTPase activating protein)

Neurofibromatosis 1

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4
Q

NF2 gene product + associated neoplasm

A

Merlin (schwannomin) protein

Neurofibromatosis 2

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5
Q

Rb gene product + associated neoplasm

A

Inhibits E2F, blocks G1 → S transition

Retinoblastoma, osteosarcoma

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6
Q

TP53 gene product + associated neoplasm

A
p53, activates p21; blocks G1 → S transition
Li Fraumeni (SBLA → sarcoma, breast, leukemia, adrenal cancers), etc
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7
Q

CDKN2A gene product + associated neoplasm

A

p16, blocks G1 → S transition

Melanoma, pancreatic cancer

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8
Q

TSC1 gene product + associated neoplasm

A

Harmatin protein

Tuberous sclerosis

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9
Q

TSC2 gene product + associated neoplasm

A

Tuberin protein

Tuberous sclerosis

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10
Q

VHL gene product + associated neoplasm

A

Inhibits hypoxia inducible factor 1a, von Hippel Landau dz

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11
Q

WT1 gene product + associated neoplasm

A
Transcription factor that regulates urogenital development
Wilms tumor (nephroblastoma)
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12
Q

PTEN gene product + associated neoplasm

A

Tyrosine phosphatase of PIP3

Breast, prostate, and endometrial cancer

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13
Q

MEN1 gene product + associated neoplasm

A

Menin

MEN 1

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14
Q

DCC

A

DCC, deleted in colon cancer

Colon cancer

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15
Q

DPC4/SMAD4

A

DPC, deleted in pancreatic cancer

Pancreatic cancer

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