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
