Genetics

Question 1

What is the management for BRCA1 mutation

Answer 1

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%

Question 2

What is Turcot syndrome

Answer 2

Turcot syndrome = clinical FAP syndrome but mismatch repair defect (MSH2, MLH1, MSH6 etc.)

Question 3

What is the management of FAP

Answer 3

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