Oncology

Question 1

Li-Fraumeni syndrome

Answer 1

mutation in p53
myriad of cancers occurring at early age in 1 family
autosomal dominant
100% penetrance by age 70

Question 2

Cowden syndrome

Answer 2

PTEN mutation

benign and malignant breast/thyroid disease, GI polyps, oral tumors

Question 3

Familial atypical mole and malignant melanoma

Answer 3

p16 mutation

increased melanoma and pancreas cancer