Genetics

Question 1

What mutation & cancers are associated w/ Cowden syndrome?

Answer 1

PTEN
Autosomal dom
Breast, uterine, thyroid

Question 2

What mutations are found w/ low grade serous ovarian ca

Answer 2

KRAS
BRAF
ERBB2
PIK3CA

Question 3

What mutations are found w/ low grade endometrioid ovarian ca

Answer 3

MMR defects- MLH1, MSH2
PTEN
ARID1A

Question 4

What mutations are found w/clear cell ovarian ca

Answer 4

ARID1A
PIK3CA
PTEN alterations

Question 5

What’s the most common mutation found a/ mucinous ovarian tumors?

Answer 5

KRAS (40-65%)
c-MYC (65%)

HER2 amplification (20-40%) & TP53 mutation (50-75%) also seen, likely later in course of malignant transformation

PI3KCA (13%)
BRAF
STK11 (2-5%)

-KRAS & HER2 amp tend to be mutually exclusive

Question 6

What is the mutation associated with Sertoli-Leydig tumors?

Answer 6

DICER1

Question 7

What mutation is found with most (95%) adult granulosa cell tumors?

Answer 7

FOXL2

Question 8

Mutation associated with increased risk Sex cord stromal tumor’s

Answer 8

STK11

Question 9

HER2

Answer 9

Her-2 belongs to the family of epidermal growth factor receptors & consists of transmembrane cell surface receptor w/ tyrosine kinase activity

Poor prognostic factor. Over expression associated w/ shorter survival

Over expression/amplification in UPSC ~ 20-50%
***Trastuzumab

Question 10

Peutz-Jeghers

Answer 10

AD
Loss of STK11 tumor suppressor gene
Malignancies of breast/lung/pancreas/GYN
Gastric cervical adenocarcinomas & minimal deviation cervical carcinomas 
SCTATs in ovary