Neoplasia Genetics Flashcards
What is t(9:22)?
What cancer is it associated with?
Philadelphia Chromosome
ABL gene on Ch9 fuses with BCR gene on Ch22
BCR-ABL tyrosine kinase
Associated with chronic myelogenous leukemia, and ALL
What stage of the cell cycle does p53 arrest?
G1
What syndrome is a copy of mutated p53 associated with? What does it result in?
Li Fraumeni syndrome
High predisposition to malignant tumors
How is E7 associated with RB?
HPV E7 binds to RB-> prevents binding of E2F-> cell cycle progression results
What is familial retinoblastoma? What results?
Kid inherits one detective copy of RB gene, second “hit” comes from a spontaneous mutation
Result: Retinoblastoma in both eyes
What results from a MYC t(8:14)?
What virus causes the same kind of cancer?
Burkitt lymphoma
EBV
What tumors are most commonly associated with VHL?
Renal cell carcinoma, hemangioblastoma, pheochromocytoma
What kind of cancer is associated with both t(8:21) and t(15:17)? How does the cancer usually present?
Acute myeloid leukemia
Presents with DIC
APC mutations are associated with what?
Familial adenamatous polyposis- excessive colonic polyp development-> early onset colon carcinoma
What translocations are associated with prostatic adenocarcinomas?
t(7:21)
t(17:21)
What cancer and gene is related to t(14:18)?
B cell lymphoma
BLC2
What do HPV E6 and HPV E7 inactivate, respectively?
E6-> p53
E7-> RB
