Tumor Suppressor Genes Flashcards

1
Q

BRCA1/2

A

DNA repair protein

Breast and ovarian tumors

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2
Q

APC

A

Adenomatous polyposis coli gene
Suppresses WNT and decreases beta-catenin
Familial adenomatous polyposis/colon cancer

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3
Q

p53

A

Li-Fraumeni

Serous/papillary carcinomas

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4
Q

MSH2, MLH1

A

Hereditary non-polyposis colon cancer (Lynch syn)

DNA mismatch repair

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5
Q

Defect in DNA repair

A
Xeroderma Pigmentosum (NER)
Ataxia telangiectasia (ATM)
Bloom Syn (BLM)
Fanconi anemia (FAC)
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6
Q

CDKN2A

A

p16

Melanoma

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7
Q

NF1/2

A

Neurofibromatosis

Negative regulator of RAS

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8
Q

RB1

A

Negative regulator of G1 to S (inhibits E2F)
Retinoblastoma
Osteogenic sarcoma

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9
Q

VHL

A

Inhibits HIF1 alpha - prevents angiogenesis
Von Hippel Lindau:
Hemangioblastoma
Clear cell renal carcinoma

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10
Q

WT1

A

Wilm’s Tumor - nephroblastoma

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11
Q

TSC1/2

A

Tuberous Sclerosis

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12
Q

PTEN

A

Tyrosine phosphatase of PIP3

breast, prostate, endometrial cancer

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