Genetic

Question 1

VHL

Answer 1

RCC
Phaechromocytoma
Cerebellar haemangioblastoma 
Retinal angioma 
Pancreatic NET

Question 2

What can long acting somatostatin analogues do?

Answer 2

Majority of patients good symptomatic control
Biochemical response in 30-70%
Tumour stabilisation - shrinkage is rare

Question 3

Risk of endometrial and ovarian cancer in Lynch syndrome?

Answer 3

20-60% endometrial
Ovarian is lower 12%

Then ovarian and endometrial cancers in Lynch syndrome tend to have a good prognosis, present early and well differentiated

Question 4

What other cancer is increased in hereditary diffuse gastric cancer? What is the name of the gene

Answer 4

E-Cadherin gene (CDH1) responsible in 30% of families

Increase risk of lobular breast cancer (40% lifetime risk)

Question 5

What is a missense mutation?

Answer 5

Substitution of one AA for another

Question 6

which BRCA mutations increase the risk of pancreatic cancer?

Answer 6

Both 1 and 2

Question 7

How much does prophylactic bilateral mastectomy reduce the risk of breast cancer in BRCA mutation carrier?

Answer 7

By more than 90%

Question 8

Which BRCA mutation is most associated with ER -tumours?

Answer 8

BRCA 1 (it’s a - on its side)