Tumor Suppressor genes Flashcards

1
Q

APC

A

Assoc. condition: colorectal cancer (assoc. with FAP)

Gene product: Negative regulator of b-catenin, WNT pathway

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2
Q

BRCA1/BRCA2

A

Assoc. condition: breast and ovarian cancer

Gene product: DNA repair protein

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3
Q

CDKN2A

A

Assoc. condition: melanoma, pancreatic cancer

Gene product: p16, blocks G1 –> S phase

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4
Q

DCC

A

Assoc. condition: colon cancer

Gene product: DCC - Deleted in Colon Cancer

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5
Q

DPC4/SMAD4

A

Assoc. condition: pancreatic cancer

Gene product: DPC - Deleted in Pancreatic Cancer

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6
Q

MEN1

A

Assoc. condition: MEN1

Gene product: menin

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7
Q

NF1

A

Assoc. condition: neurofibromatosis type 1

Gene product: Ras GTPase activating protein (neurofibromin)

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8
Q

NF2

A

Assoc. condition: neurofibromatosis type 2

Gene product: merlin (schwannomin) protein

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9
Q

PTEN

A

Assoc. condition: breast cancer, prostate cancer, endometrial cancer
Gene product: tyrosine phosphatase of PIP3 (e.g. protein kinase B [AKT] activation)

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10
Q

Rb

A

Assoc. condition: retinoblastoma, osteosarcoma

Gene product: inhibits E2F, blocks G1 –> S phase

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11
Q

TP53

A

Assoc. condition: most human cancer, (Sarcoma, Breast, Leukemia, Adrenal gland), Li-Fraumeni syndrome
Gene product: p53, activates p21, blocks G1 –> S phase

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12
Q

TSC1

A

Assoc. condition: tuberous sclerosis

Gene product: hamartin protein

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13
Q

TSC2

A

Assoc. condition: tuberous sclerosis

Gene product: tuberin protein

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14
Q

VHL

A

Assoc. condition: von Hippel-Lindau dz, renal cell carcinoma

Gene product: inhibits hypoxia inducible factor 1a

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15
Q

WT1/WT2

A

Assoc. condition: Wilms tumor (nephroblastoma)

Gene product: transcription factor that regulates urogenital development

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