Neoplasia V Flashcards
what cancer is associated with APC? how?
familial polyposis coli (adenocarcinoma of colon)
what cancer is associated with BRCA 1/2?
breast and ovarian
what cancer is associated with RB?
retinoblastoma and osteogenic sarcoma
what is the function of APC?
prevents nuclear transcription
what is the function of BRCA 1/2?
regulates DNA repair
what is the function of RB?
inhibits G1 - S phase
what is the role of the WNT pathway?
- controls cell fate, adhesion, and cell polarity during embryonic development 2. self-renewal of hematopoietic stem cells
what happens following a double mutation in APC?
B-catenin accumulates in cell - FAP, non-familial colorectal CA and sporadic adenomas
what are the cancer associated with RB mutations?
retinoblastoma, osteosarcoma, soft tissue sarcoma
what is the function of p53?
inhibits G1 - S phase, repairs DNA, activates BAX
what cancers are associated with p53 mutation?
lung, colon, breast CA, Li Fraumeni syndrome
which HPV protein inhibits p53?
E6
what is the VHL gene?
tumor suppressor gene on chromosome 3 - part of ubiquitin ligase complex
what is the role of the VHL gene?
regulates nuclear transcription via HIF-1a
what diseases are associated with VHL mutations?
hereditary renal cell CAs, pheochromocytomas, hemangioblastomas of CNS, retinal angiomas, renal cysts