Genetic Syndromes And Cancer

Question 1

What is lynch syndrome (also known as HNPCC)?

Answer 1

Strong familial prevalence of colorectal, ovarian and endometrial cancer caused by mutation in DNA mismatch repair genes

Question 2

How is FAP coli inherited?

Answer 2

Autosomal dominant pattern

Question 3

What is familial adenomatosis polyposis coli?

Answer 3

An inherited condition caused by mutation in the APC gene that causes hundreds of polyps in the colon. Patients inevitably develop colon cancer

Question 4

Mutations in what gene causes retinoblastoma?

Answer 4

Retinoblastoma gene

Question 5

What is li fraumeni syndrome?

Answer 5

Rare autosomal dominant disorder where there is a mutation in a tumour suppressor gene leading to increased risk of sarcoma and cancer breast, brain and adrenal glands

Question 6

Which cancers are associated with MEN1 syndrome?

Answer 6

Parathyroid, pancreas, pituitary

Question 7

What cancers are associated with MEN 2A syndrome?

Answer 7

Medullary thyroid cancer, phaeochromocytoma and parathyroid adenoma

Question 8

What features are associated with MEN 2B syndrome?

Answer 8

Medullary thyroid cancer, phaeochromocytoma, mucosal neuroma, gastro-intestinal complaints and craniosynostosis