DNA mutations

Question 1

BRCA1/2

Answer 1

involved in repair of dsDNA breaks
leads to breast and ovarian cancer

Question 2

li-fraumeni

Answer 2

inherited mutation in TP53 that leads to many cancers

Question 3

HNPCC

Answer 3

mutations in MLG1, MSH2, MSH6, PMS2, EPCAM

Question 4

xeroderma pigmentosum

Answer 4

mutation in XP gene involved in NER
causes skin cancer and sensitivity to UV

Question 5

ataxia telangiectasia

Answer 5

mutation in ATM involves dsDNA breaks
neurogenerative with increased lymphoma and luekemia

Question 6

bloom’s syndrome

Answer 6

mutations in BLM gene (DNA helicase) involved in DNA repair/replication
rash and variety of cancers