FA tumor supressor genes 12/23

Question 1

APC. Function?

Answer 1

Negative regulator of beta-catenin/WNT pathway

Question 2

APC assoc. tumors?

Answer 2

Colorectal cancer (associated with FAP)

Question 3

BRCA1/BRCA2 function?

Answer 3

BRCA1/BRCA2 proteins (DNA repair proteins)

Question 4

BRCA1/BRCA2 assoc tumors?

Answer 4

Breast, ovarian, prostate, pancreatic cancer

Question 5

CDKN2A function?

Answer 5

p16, blocks G1 -> S phase

Question 6

CDKN2A assoc. tumors?

Answer 6

Many cancers (melanoma, lung, pancreatic)

Question 7

DCC function?

Answer 7

(gene product) DCC - deleted in colorectal cancer

Question 8

DCC assoc tumor?

Answer 8

Colorectal cancer

Question 9

SMAD4 (DPC4) function?

Answer 9

(gene product) DPC - deleted in pancreatic cancer

Question 10

SMAD4 (DPC4) assoc tumor?

Answer 10

pancreatic cancer, colorectal cancer

Question 11

MEN1 function?

Answer 11

(gene product) Menin

Question 12

MEN1 tumors?

Answer 12

Multiple endocrine neoplasia type 1

Question 13

NF1 function?

Answer 13

neurofibromin (RAS GTPase activating protein)

Question 14

NF1 assoc tumor?

Answer 14

Neurofibromatosis type 1

Question 15

NF2 function?

Answer 15

Merlin (schwannomin) protein

Question 16

NF2 assoc tumor?

Answer 16

Neurofibromatosis type 2

Question 17

PTEN function?

Answer 17

Negative regulator of PI3k/AKT pathway

Question 18

PTEN assoc tumor?

Answer 18

Prostate, breast, and endometrial cancer

Question 19

!!! RB1 function?

Answer 19

Inhibits E2F; blocks G1->S phase

Question 20

!!! RB1 assoc tumors?

Answer 20

Retinoblastoma, osteosarcoma

Question 21

!!! TP53 function?

Answer 21

p53, activates p21, blocks G1 -> S phase

Question 22

!!! TP53 assoc tumor?

Answer 22

Most cancers, Li-Fraumeni (SBLA) syndrome (multiple malignancies at early age; Sarcoma, Breast/Brain, Lung/Leukemia, Adrenal gland)

Question 23

TSC1 function?

Answer 23

Hamartin protein

Question 24

TSC1 assoc tumor?

Answer 24

Tuberous sclerosis

Question 25

TSC2 function?

Answer 25

Tuberin (,,2berin”)

Question 26

TSC2 assoc tumor?

Answer 26

Tuberous sclerosis

Question 27

VHL function?

Answer 27

Inhibits hypoxia-inducible factor 1a

Question 28

VHL assoc tumor?

Answer 28

von Hippel-Lindau disease

Question 29

WT1 function?

Answer 29

Urogenital development transcription facor

Question 30

WT1 assoc tumor?

Answer 30

Wilms Tumor (nephroblastoma)