Park Tumor Suppression Genes Flashcards
Most LOF mutations in Tumor Supressor Genes are______
recessive
- requried loss of both alleles for loss of tumor supressive functions
- haplosufficient
For retinoblastoma: 100% of bilateral are
hereditary
For retinoblastoma unilateral tumors percentages
3:1
non-hereditary to hereditary
Which occurs quicker/is diagnosed in younger pt’s hereditary or non-hereditary
hereditary–> bc mutation of one allele only requires that the other wild type allele develops a mutation–> this happens much more rapidly/with much higher likelihood than a double mutation as is required in non-hereditary
inherited: non-inherited cancers associated with RB1 gene
retinoblastoma
–>many different cancers
what does RB1 regulate
cell division, DNA replication, cell death
Inherited and non-inherited cancers associated with TP53 gene
Li-Fraumeni syndrome (brain tumors, sarcomas, leukemia)
–>many different cancers
what does TP53 regulate?
cell division, cell repair, cell death
inherited: non-inherited cancers associated with CDKN2A gene
Melanoma
–>many different cancers
what does CDKN2A regulate
cell division and cell death
Inherited an non-inherited cancers associated with APC (adeomatous polyposis coli)
colorectal cancer (due to familial polyposis)
–> most colorectal cancers
what does APC regulate
cell division, DNA damage, cell migration, cell adhesion, cell death
Inherited: Non-inherited cancers associated with MLHA, MSH2, MSH6
Colorectal cancer (without polyposis)
–>colorectal, gastric endometrial cancer
what do MLH1, MSH2, and MSH6 regulate
DNA mismatch repair, cell cycle regulation
Inherited: non-inherited cancers associated with BRCA 1 and BRCA 2 genes
breast and or ovarian cancer
–>only rare ovarian cancer
What to BRCA1 and BRCA2 regulate
repair of dsDNA breaks, cell division and cell death
inherited and non inherited tumors associated wit WT1 and WT2 genes
WIlms’ Tumor
–>wilm’ tumor
what does WT1 and WT2 regulate
cell division, transcriptional regulation
inherited: non inherited cancers associated with NF1 and NF2 genes
Nerve Tumors (including brain)
–>small numbers of colon cancers, melanomas, neuroblastoma
What does Nf1 and Nf2 regulate
RAS-mediated signal transduction, dell differentiation, cell division, developmental processes
Inherited: non-inherited mutations associated with VHL genes
Kidney cancer
–>certain types of kidney cancer
what does VHl regulate
Cell division, cell death, differentiation, response to cell stress
loss of heterogeneity–>
simply means the second hit has occuring in the wild-type allele for a hereditary based LOF mutation–> the new phenotype is hmogenous for the mutant (LOF) allele–>now cancer can develop
