Tumor Suppressor Genes Flashcards

1
Q

APC

A

Negative regulator of beta-catenin/WNT pathway

CRC (FAP)

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2
Q

BRCA1/BRCA2

A

DNA repair protein

Breast, ovarian, pancreatic cancer

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3
Q

CDKN2A

A

P16, blocks G1–>S phase
Melanoma
Pancreatic cancer

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4
Q

DCC

A

Colon cancer (deleted)

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5
Q

DPC4/SMAD4

A

Pancreatic cancer (deleted)

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6
Q

MEN1

A

Menin

MEN1

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7
Q

NF1

A

Neurofibromin (Ras GTPase activating protein)

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8
Q

NF2

A

Merlin (schwannomin) protein

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9
Q

PTEN

A

Tyrosine phosphatase of PIP3 (protein kinase B activation)

Breast cancer, prostate cancer, endometrial cancer

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10
Q

Rb

A

Inhibits EF2; blocks G1–> S phase
Retinoblastoma
Osteosarcoma

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11
Q

TP53

A

P53, activates p21, blocks G1–>S phase

Most human cancers, Li-Fraumeni syndrome (early age–sarcoma, breast, leukemia, adrenal gland)

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12
Q

TSC1

A

Hamartin protein

Tuberous sclerosis

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13
Q

TSC2

A

Tuberin protein

Tuberous sclerosis

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14
Q

VHL

A

Inhibits hypoxia inducible factor 1a

Von Hippel-Linda disease

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15
Q

WT1

A
TF regulating urogenital development
Wilms tumor (nephroblastoma)
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