Tumor Biology/Genetics

Question 1

Genetic mutation in Granulosa Cell Tumors of the Ovary?

Answer 1

FOXL2

**Can use ketoconazole to target

Question 2

Genetic mutation in Sertoli Leydig tumor of the ovary?

Answer 2

DICER

Question 3

EFGR signaling pathway

Answer 3

ErbB1/ErbB2 heterodimer —> Autophosphorylation of intracellular tyrosine kinase region —> activation of RAS —> activation of RAF —> activation of MEK —> activation of MAPK which is transported into the nucleus leasing to activation of MYC, JUN, FOS and gene transcription

Question 4

Most common gene mutation is male breast cancer

Answer 4

BRCA2 (male and female breast cancer, OC, prostate, pancreatic cancer, melanoma)

Question 5

Where do Lynch syndrome patients develop colon cancers?

Answer 5

Right side of colon

Question 6

Gene mutation in Cowden’s syndrome? Most common cancer in Cowden’s syndrome?

Answer 6

PTEN Breast > uterine > thyroid Also hamartomas and autism, sometimes severe

Question 7

Li Fremeni: What gene is mutated and what cancers do they develop?

Answer 7

P53 mutation Develop breast cancer and sarcomas

Question 8

Genes mutated in Lynch syndrome include? What role do they play in the cell?

Answer 8

MSH2 (most common), MSH6, MLH1, PMS2 DNA mismatch repair

Question 9

What product does HPV E7 bind and degrade?

Answer 9

Rb —> leads to activation of E2F

Question 10

What role does PTEN play in the cell?

Answer 10

PTEN is a tumor suppressor gene - it inhibits the phosphorylation of PIP2 by PI3K PIP3 usually activates AKT leading to inhibition of apoptosis and cell proliferation

Question 11

Gardasil vs Gardasil 9 vs Cervarix

Answer 11

All are against HPV major capsid protein (L1) -Gardasil against HPV 6, 11, 16 and 18 -Gardasil 9 again above + 31, 33, 45, 52 and 58 -Cervarix against HPV 16 and 18 Recommended for girls 9-11 and boys ages 11-13

Question 12

What mutations are seen in low-grade serous ovarian cancers?

Answer 12

KRAS and BRAF

Question 13

Ras/RAF/MEK signaling pathway

Answer 13

Question 14

What are endometriosis associated cancers? What mutation do they contain?

Answer 14

Clear cell and endometrioid of the ovary/peritoneum Arid1A - involved in epigenetic regulation and the SWI/SNF pathway

Question 15

What mutation do we see in small cell carcinoma of the ovary, hypercalcemic type? How are these cancers treated?

Answer 15

SMARCA4 BEP/VAC Ongoing clinical trials are investigation checkpoint inhibitors with promising results

Question 16

What syndrome is associated with STK11 mutations? What cancers do we see?

Answer 16

Sex cord stromal tumors of the ovary, uterine cancers and adenoma malignum of the cervix

Also breast and gastric

Question 17

What gene mutations are seen in mucinous carcinoma of the ovary?

Answer 17

KRAS

Question 18

Immune Checkpoint Pathway

Question 19

What mutations are seen in UPSC?

Answer 19

p53 and Her2; also associated with BRCA1

Question 20

What is the most common type of p53 mutation?

Answer 20

Missense mutations in exons 5-8

Question 21

What is the gene that encodes the colony simulating factor receptor?

Question 22

What role does p53 play in the cell cycle?

Question 23

Which cancer has Schiller Duval bodies?

Answer 23

Endodermal sinus

Marker = AFP