FA tumor suppressor genes Flashcards

1
Q

Tumor suppressor genes loss of function increases caner risk;

A

both alleles must be lost for expression of disease

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2
Q

APC gene

A

Colorectal cancer (associated with FAP)

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3
Q

BRCA1

A

Breast and ovarian cancer; DNA repair protein

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4
Q

BRCA2

A

Breast and ovarian cancer; DNA repair protein

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5
Q

CPD4/SMAD4

A

Pancreatic Cancer; DPC - Deleted in Pancreatic Cancer

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6
Q

DCC

A

Colon Cancer; DCC Deleted in Colon Cancer

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7
Q

MEN1

A

MEN type 1

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8
Q

NF1

A

Neurofibromatosis type 1; RAS GTPase activating protein (neurofibromin)

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9
Q

NF2

A

Neurofibromatosis type 2; Merlin (schwannomin) protein

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10
Q

p16

A

Melanoma; Cyclin-dependent kinase inhibitor 2A

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11
Q

p53

A

Most human cancers, Li-Fraumeni syndrome; Transciption factor for p21, blocks G1-S phase

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12
Q

PTEN

A

Breast, Prostate, Endometrial

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13
Q

RB

A

RetinoBlastoma, osteosarcoma; Inhibits E2F; blocks G1-S phase

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14
Q

TSC1

A

Tuberous sclerosis; Hamartin protein

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15
Q

TSC2

A

Tuberous sclerosis; Tuberin protein

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16
Q

VHL

A

Von Hippel Lindau disease; Inhibits hypoxia inducible factor 1a

17
Q

WT1

A

Wilms Tumor (nephroblastoma)

18
Q

WT2

A

Wilms Tumor (nephroblastoma)