Tumor Suppressor-loss of function due to mutation, need 2 damaged alleles

Question 1

APC

Answer 1

colorectal cancer
Familial Adenomatous Polyposis
chromosome 5

Question 2

BRCA 1

Answer 2

breast and ovarian cancer
chromosome 17
mutated DNA repair gene

Question 3

BRCA 2

Answer 3

breast and ovarian cancer
chromosome 13
mutated DNA repair gene

Question 4

DPC4/SMAD4

Answer 4

pancreatic cancer

mutated DPC

Question 5

DCC

Answer 5

colon cancer

mutated DCC

Question 6

MEN1

Answer 6

MEN 1 cluster of cancers
-parathyroid adenoma (primary hyperparathyroid)
-pituitary adenoma (prolactin or GH)
-Pancretice endocrin tumor-Zollinger Ellison, VIPoma, insulinoma, glucagonoma
(often present with kidney stones and ulcers)

Question 7

NF-1

Answer 7

Neurofibroma-benign nerve sheath tumor in PNS
variety of symptoms-pain to cognitive ability
Mutation in RAS GTPase activating protein (neurofibromin)
Chromosome 17

Question 8

NF-2

Answer 8

Acoustic neuroma  (Schwannoma) and meningiomas
Mutated Meri (schwannonin) protein
Chromosome 22

Question 9

p16

Answer 9

Melanoma

Mutated cyclic dependent kinase inhibitor 2A

Question 10

p53

Answer 10

Most cancer (somatic mutations) and esp. Li-Fraumani (germline mutation of p53)
Mutated transcription factor for p21, blocks G1-->S phase

Question 11

PTEN

Answer 11

breast cancer, prostate cancer, endometrial cancer

Question 12

Rb

Answer 12

Retinoblasoma, osteosarcoma

Inhibit E2F, block G1–>S phase

Question 13

TSC1

Answer 13

Tuberous sclerosis

Hamartin protein

Question 14

TSC2

Answer 14

Tuberin protein

Question 15

VHL

Answer 15

Von Hippel Lindau

Inhibits hypoxia inducible factor 1a

Question 16

WT1 and WT2

Answer 16

Wilms tumor (nephroblastoma)