L23 - Clinical Cancer Genetics

Question 1

What is the difference between constitutional mutations and somatic mutations?

Answer 1

constitutional mutations are germline mutations:

• hereditary
• future cancer risk
• provides information for other family members

Somatic mutations

• acquired mutations
• provides reassurance for family members

Question 2

Why identify patients with increased genetic predisposition to cancer?

Answer 2

• informs medical management and surgical options
• provides reason for cancer development
• informs relatives of cancer risk
• informs patient about future cancer risk

Question 3

How can patients with increased genetic predisposition to cancer be identified?

Answer 3

• syndromic features
• tumour testing
• pathology of cancer
• family history

Question 4

What are polygenic risk scores and what are they used for?

Answer 4

genetic testing of multiple low risk factors
can indicate genetic susceptibility to cancer.
It is undertaken by looking for cancer associated SNPs found from GWAS

Question 5

What is meant by Multifactorial cancer risk?

Answer 5

Cancer that arises due to many combined influences and low risk factors

Question 6

What is Stratified Prevention?

Answer 6

the categorisation of the popualtion into risk groups, each of which would be offered a different intervention

Question 7

What are the 3 outcomes of diagnostic genetic testing and their next steps?

Answer 7

• no disease causing variant identified
  manage on basis on family history
• variant of uncertain significance identified
  analyse variant with scientists
  manage on bass of personal and family history
• disease causing (pathogenic) variant identified
  manage as per gene specific protocol
  offer cascade screeening to relatives