Genetics

Question 1

Risk of ovarian cancer in BRCA1

Answer 1

40-60%

Question 2

Risk of ovarian cancer in BRCA2

Answer 2

15-20%

Question 3

most common gene mutation associated with autosomal dominant hereditary pancreatitis

Answer 3

PRSS1

Question 4

what kinds of lesions are typical of MEN-1

Answer 4

3 Ps

pituitary
parathyroid
pancreatic

Question 5

patient with pituitary and pancreatic lesions, what should you look for

Answer 5

parathyroid lesions

MEN-1

Question 6

in a child presenting with a thyroid mass and elevated calcitonin levels, what else should you test for

Answer 6

• calcium levels: hyperparathyroidism
• metanephrine levels: pheochromocytomas

Question 7

Syndrome associated with p53

Answer 7

Li-Fraumeni syndrome

Question 8

Syndrome associated with STK11 mutation

Answer 8

Peutz-Jeghers Syndrome

Question 9

What kind of tumors arise in Peutz-Jeghers Syndrome

Answer 9

hamartomatous polyps

Question 10

Genetic mutation in MENII

Answer 10

Ret proto-oncogene

Question 11

What are the top 2 cancers are individuals with Peutz-Jeghers are at risk for?

Answer 11

Colorectal
breast