Cancer Genetics

Question 1

What does the RET gene cause?

Answer 1

Gain of function variants cause multiple endocrine neoplasia type 2

Question 2

What does the MET gene cause?

Answer 2

Gain of function variants cause hereditary papillary renal cell carcinoma type 1

Question 3

What test is done to look for mismatch repair genes in lynch syndrome?

Answer 3

Immunohistochemistry screening

Question 4

What is the usual mechanism for familial cancer predisposition syndromes?

Answer 4

Autosomal dominant inheritance caused by a loss of function variant in one of a person’s two copies of a gene whose normal function prevents cancer

Question 5

What is the risk to siblings of a patient with a de novo cancer causing mutation?

Answer 5

1%

Question 6

What is the inheritance pattern of MUTYH associated polyposis?

Answer 6

Autosomal recessive

Question 7

What is the inheritance pattern of fanconi anaemia?

Answer 7

Autosomal recessive

Question 8

What cancers are patients with Lynch syndrome at increased risk of?

Answer 8

Colorectal, endometrial, ovrarian, other GI cancers

Question 9

Which subset of Lynch syndrome is mostly due to somatic causes?

Answer 9

Loss of MLH1 and PMS2