Genes Flashcards
TP53
Apoptosis or senescence
Mutated in >50% of all tumors
BCR/ABL
Philadelphia chromosome
Constantly activated kinases
>95% of CML patients
MYC/IGH
B-cell expansion and cell proliferation
EBV infections
APC
Degenerates B-catenin
Mutated in CRC
MLH1
MMR
Lynch, CRC
High risk of development at young age
MSH2
MMR
Lynch, CRC
High risk of development at young age
MSH6
MMR
Lynch, CRC
PMS2
Lynch, CRC
Older age of development
NTHL-1
Helps in BER
Adenomatous polyposis, CRC
BRAC1
HR
Mutations in 3% of all BRC
Mutations in 8% of ovarian cancers
BRAC2
HR
Mutations in 2% of all BRC
Mutations in 6% of ovarian cancers
CHEK2
TSG
Mutated in BRC
CDKN2A
Encodes for p14 & p16 TSG’s
40% of melanomas
p16 mutated –> pancreatic cancer
BRAF
Oncogene
Mutated in 8% of all cancers
Accounts for 52% of mutations in melanomas
EGFR
PI3K activation
Mutated in lung cancer