Genetics Flashcards
1
Q
What is the management for BRCA1 mutation
A
Yearly MRI breasts from age 30-49, mammogram from 50
Consider prophylactic bilateral mastectomy (↓RR by 90%)
Prophylactic oophorectomy - ↓RR ovarian by >95% and breast CA by ~60%
2
Q
What is Turcot syndrome
A
Turcot syndrome = clinical FAP syndrome but mismatch repair defect (MSH2, MLH1, MSH6 etc.)
3
Q
What is the management of FAP
A
Yearly colonoscopy from 10yrs
Colectomy (total colectomy vs panproctocolectomy with ileo-caecal pouch) when multiple adenomas seen
Upper GI / small bowel surveillance from age 25
