GI Cancers and Genetics

Question 1

Genetics for idiopathic and tropical pancreatitis?

Answer 1

SPINK1
Auto-recessive

Question 2

Genetics for Peutz-Jager?

Answer 2

STK11

Question 3

Genetics for FAMMM syndrome?

Why do I care about it (2 cancers)?

Answer 3

CDKN2A

Atypical Mole and melenoma syndrome

Increased esopahgeal SCC and increased pancreatic cancer

Question 4

What is Caroli’s syndrome and what is the genetic mutation in?

Answer 4

Type V choledococyst with hepatic fibrosis due to mutation in ciliary proteins

Question 5

What is the genetic mutation for Alagille syndrome?

Answer 5

Ductopenia due to autosomal dominant mutation in JAG1 gene

Question 6

Cafe au lait spots with axilary freckles and small bowel obstruction

Answer 6

Neufoibromatosis

Question 7

Genetics for Wilsons?

Answer 7

ATP7B

Question 8

Isolated elevated AlkPhos and angoid streaks in eyes

Answer 8

Pagets disease

Question 9

Autoimmune disease with candidiasis in Scandinavian?

Answer 9

APECED

Question 10

What should you check with SCC for treatment purposes?

Answer 10

HER-2 antibody

If positive and unresectable, traztuzumab

Question 11

Germline CDH1 mutations what should you do?

Answer 11

Risk for gastric cancer - RESECT

Question 12

Drug to treat symptoms of carcinoid?

Answer 12

Octreotide