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heme/onc > 234b Tumor Suppressors > Flashcards

234b Tumor Suppressors Flashcards

1
Q

APC
associated tumor?
gene product?

A

colorectal cancer (associated with FAP)

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2
Q

BRCA 1
associated tumor?
gene product?

A

breast and ovarian cancer

DNA repair protein

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3
Q

BRCA2
associated tumor?
gene product?

A

breast and ovarian cancer

DNA repair protein

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4
Q

CPD4/SMAD4
associated tumor?
gene product?

A

pancreatic caner

DPC - Deleted in Pancreatic Cancer

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5
Q

DCC
associated tumor?
gene product?

A

colon cancer

DCC - Deleted in Colon Cancer

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6
Q

MEN1
associated tumor?
gene product?

A

MEN I

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7
Q

NF1
associated tumor?
gene product?

A

NeuroFibromatosis I

RAS GTPase activating protein (neurofibromin)

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8
Q

NF2
associated tumor?
gene product?

A

NeuroFibromatosis 2

Merlin (schwannomin) protein

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9
Q

p16
associated tumor?
gene product?

A

melanoma

–I Cyclin D –> inhibits CDK2 P of Rb

allows cyclin-dep kinase 2A –> P Rb –> allows progression

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10
Q

p53
associated tumor?
fxn?
gene product?

A

most human cancers
Li-Fraumeni syndrome (inherited p53 mutation)

guardian of the genome - transcription factor, up regulated in tumors but is mutated in the DNA binding domain (thus doesn’t regulate self by making MDM2 to destroy p53)

transcription factor for p21, blocks G1->S

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11
Q

PTEN
associated tumor?
gene product?

A

breast, prostate, endometrial

Cowden’s syndrome

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12
Q

Rb
associated tumor?
normal function?
gene product?

A

RetinoBlastoma, osteosarcoma

central regulator of G1-S transition

inhibits E2F, blocks G1->S

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13
Q

TSC1
associated tumor?
gene product?

A

tuberous sclerosis

hamartin protein

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14
Q

TSC2
associated tumor?
gene product?

A

tuberous sclerosis

tuberin protein

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15
Q

VHL
associated tumor?
gene product?

A

von hippel-lindau disease

inhibits hypoxia inducible factor 1a

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16
Q

WT1

A

wilms tumor (nephroblastoma)

17
Q

WT2

A

wilms tumor (nephroblastoma)

18
Q

tumor suppressor genes overview? one or two alleles required?

A

loss of fxn –> increased cancer risk

both alleles must be lost (AKA loss of heterozygosity) - can be randomly deleted in uniparental disomy, can be epigenetic via methylation of normal allele

19
Q

tumor suppressor genes overview? one or two alleles required?

A

loss of fxn –> increased cancer risk

both alleles must be lost (AKA loss of heterozygosity)

heme/onc (54 decks)

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