Tumor Suppressor Genes pg 232

Question 1

What kind of mutation to tumor suppressor genes causes an increased cancer risk?

Answer 1

Loss of Function

Question 2

How many alleles of a TSG must be lost for expression of disease?

Answer 2

BOTH alleles

Question 3

Colorectal Cancer a/w Familial Adenomatous Polyposis

Answer 3

APC

Question 4

Breast and Ovarian Cancer

Answer 4

BRCA1/2=DNA repair proteins

Question 5

Pancreatic Cancer

Answer 5

CPD4/SMAD4

Note: “DPC: Deleted in Pancreatic Cancer”

Question 6

Colon Cancer

Answer 6

DCC

Note: “DCC: Deleted in Colon Cancer”

Question 7

MEN Type 1

Answer 7

MEN1

Question 8

Neurofibromatosis Type 1

Answer 8

NF1=RAS GTPase activating protein (aka neurofibromin)

Located on Chromosome 17

Question 9

Neurofibromatosis Type 2

Answer 9

NF2=Merlin (schwannomin) protein

Located on Chromosome 22 (type 2…think bilateral acoustic neuromas i.e. two 2’s)

Question 10

Melanoma

Answer 10

p16=cyclin-dependent kinase inhibitor 2A

Question 11

Most human cancers and Li-Fraumeni Syndrome

Answer 11

p53=transcription factor for p21 (which blocks progression of G1 phase to S phase)

Question 12

Breast, Prostate, and Endometrial Cancers

Answer 12

PTEN

Question 13

Cowden’s Syndrome

Answer 13

PTEN

Question 14

Retinoblastoma

Answer 14

Rb

Question 15

Osteosarcoma

Answer 15

Rb

Question 16

Tuberous Sclerosis

Answer 16

TSC1=Hamartin protein

TSC2=Tuberin protein

Question 17

von Hippel-Lindau disease

Answer 17

VHL=inhibits hypoxia inducible factor 1a (HIF-1a)

Question 18

Wilms Tumor

Answer 18

WT1/2