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Immunology > Tumor suppressor genes - loss of function --> increase risk of cancer; both allele must be loss for disease > Flashcards

Tumor suppressor genes - loss of function --> increase risk of cancer; both allele must be loss for disease Flashcards

1
Q

APC

A

Colorectal cancer (associated with FAP)

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2
Q

BRCA1/BRCA2

A

Breast and ovarian cancer DNA repair protein

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3
Q

CDKN2A

A

Melanoma, pancreatic cancer p16, blocks G1 –> S phase

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4
Q

DCC

A

Colon cancer

DCC—Deleted in Colon Cancer

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5
Q

DPC4/SMAD4

A

Pancreatic cancer DPC—Deleted in Pancreatic Cancer

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6
Q

MEN1

A

MEN 1

Menin(gene product)

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7
Q

NF1

A

NeuroFibromatosis type 1

Ras GTPase activating protein (neurofibromin)

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8
Q

NF2

A

NeuroFibromatosis type 2

Merlin (schwannomin) protein

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9
Q

PTEN

A

Breast cancer, prostate cancer, endometrial

cancer

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10
Q

Rb

A

Retinoblastoma, osteosarcoma Inhibits E2F; blocks G1 –> S phase

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11
Q

TP53

A

Most human cancers, Li-Fraumeni syndrome

p53, activates p21, blocks G1 –> S phase

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12
Q

TSC1

A

Tuberous sclerosis

Hamartin protein

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13
Q

TSC2

A

Tuberous sclerosis

Tuberin protein

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14
Q

VHL

A

von Hippel-Lindau disease, renal cell
carcinoma

Inhibits hypoxia inducible factor 1a
WT1/WT2

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15
Q

WT1/WT2

A

Wilms Tumor (nephroblastoma)

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Immunology (10 decks)

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