Tumor Biology/Genetics Flashcards
Genetic mutation in Granulosa Cell Tumors of the Ovary?
FOXL2
**Can use ketoconazole to target
Genetic mutation in Sertoli Leydig tumor of the ovary?
DICER
EFGR signaling pathway
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
Most common gene mutation is male breast cancer
BRCA2 (male and female breast cancer, OC, prostate, pancreatic cancer, melanoma)
Where do Lynch syndrome patients develop colon cancers?
Right side of colon
Gene mutation in Cowden’s syndrome? Most common cancer in Cowden’s syndrome?
PTEN Breast > uterine > thyroid Also hamartomas and autism, sometimes severe
Li Fremeni: What gene is mutated and what cancers do they develop?
P53 mutation Develop breast cancer and sarcomas
Genes mutated in Lynch syndrome include? What role do they play in the cell?
MSH2 (most common), MSH6, MLH1, PMS2 DNA mismatch repair
What product does HPV E7 bind and degrade?
Rb —> leads to activation of E2F
What role does PTEN play in the cell?
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
Gardasil vs Gardasil 9 vs Cervarix
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
What mutations are seen in low-grade serous ovarian cancers?
KRAS and BRAF
Ras/RAF/MEK signaling pathway
What are endometriosis associated cancers? What mutation do they contain?
Clear cell and endometrioid of the ovary/peritoneum Arid1A - involved in epigenetic regulation and the SWI/SNF pathway
What mutation do we see in small cell carcinoma of the ovary, hypercalcemic type? How are these cancers treated?
SMARCA4 BEP/VAC Ongoing clinical trials are investigation checkpoint inhibitors with promising results
What syndrome is associated with STK11 mutations? What cancers do we see?
Sex cord stromal tumors of the ovary, uterine cancers and adenoma malignum of the cervix
Also breast and gastric
What gene mutations are seen in mucinous carcinoma of the ovary?
KRAS
Immune Checkpoint Pathway
What mutations are seen in UPSC?
p53 and Her2; also associated with BRCA1
What is the most common type of p53 mutation?
Missense mutations in exons 5-8
What is the gene that encodes the colony simulating factor receptor?
What role does p53 play in the cell cycle?
Which cancer has Schiller Duval bodies?
Endodermal sinus
Marker = AFP
