1
Q
BRCA1/2
A
involved in repair of dsDNA breaks
leads to breast and ovarian cancer
2
Q
li-fraumeni
A
inherited mutation in TP53 that leads to many cancers
3
Q
HNPCC
A
mutations in MLG1, MSH2, MSH6, PMS2, EPCAM
4
Q
xeroderma pigmentosum
A
mutation in XP gene involved in NER
causes skin cancer and sensitivity to UV
5
Q
ataxia telangiectasia
A
mutation in ATM involves dsDNA breaks
neurogenerative with increased lymphoma and luekemia
6
Q
bloom’s syndrome
A
mutations in BLM gene (DNA helicase) involved in DNA repair/replication
rash and variety of cancers
PHRM 824
flashcards
Decks in class (6)
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