Clinical Cancer Genetics

Question 1

What is the difference between a hereditary and acquired mutation?

Answer 1

Hereditary = germline
Acquired = any other time

Question 2

What are the two different types of genetic susceptibility?

Answer 2

High risk cancer genes

Familial cancer

Question 3

What are high risk cancer genes?

Answer 3

Single mutation in one high-risk gene

Question 4

What are familial cancers?

Answer 4

Multiple lower risk genetic factors

Question 5

What is an example of a high effect common variant influencing common disease?

Answer 5

Macular degeneration

Question 6

What do the most common high risk cancer predisposition genes code for?

Answer 6

Retinoblastoma

Medullary thyroid

Question 7

What can you use to identify genetically predisposed cancers?

Answer 7

Family history
Syndromic features
Tumour testing
Pathology of cancer

Question 8

What does a family history assessment show?

Answer 8

Age of onset and type of cancer

Question 9

How do you get a polygenic risk score?

Answer 9

GWAS for cancer associated SNPs

Question 10

What are the syndromic features of cancer predisposition genes?

Answer 10

Trichilemmoma

Mucocutaneous pigmentation

Question 11

How can you check if a mutation is germline?

Answer 11

blood test

Question 12

What is stratified prevention?

Answer 12

Categorisation of the population into risk groups, each of which would be offered a different intervention

Question 13

How often are all women screened for breast cancer?

Answer 13

3 yearly from 47-70

Question 14

How big of a risk is B1 surveillance?

Answer 14

Medium

Question 15

How big of a risk is B2 surveillance

Answer 15

High

Question 16

If you are on B1 surveillance how often do you get invited for breast cancer screening?

Answer 16

Anually 40-50

3 yearly 50-70

Question 17

How often do you get invited for breast cancer screening if you’re on B2 surveillance?

Answer 17

Annual 40-60

3 yearly 60-70

Question 18

What is chemo prevention?

Answer 18

Use of drugs to preemptively minimise cancer risk

Question 19

At what % likelihood do you test for high risk cancer genes?

Answer 19

10%

Question 20

What type of gene are most cancer predisposition genes?

Answer 20

Autosomal dominant

Question 21

Why has there been a move to WGS for genetic cancer testing?

Answer 21

Increased mutation detection
Increased understanding of mutagenesis
Greater understanding of phenotypic spectrum/cancer risk

Question 22

What are the possible outcomes of diagnostic genetic testing?

Answer 22

No disease causing variant
Variant of uncertain sigificance identified
Disease causing variant identified

Question 23

If you identify a pathogenic variant, how can you manage it?

Answer 23

Risk reducing surgeries
Chemoprevention
Invasive and non-invasive imaging

Question 24

What is predictive testing?

Answer 24

A test in a well person to predict future risk

Question 25

What are the BRCA1 and BRCA2 genes involved in?

Answer 25

DNA repair and regulation of transcription

Question 26

What is the prevelance of lynch syndrome?

Answer 26

1 in 440

Question 27

What genes are involved in lynch syndrome?

Answer 27

MLH1, MSH2, MSH6 and PMS2

Question 28

What types of cancer is lynch syndrome most associated with?

Answer 28

Colorectal, endometrial and ovarian

Question 29

What risk reducing surgery is done in lynch syndrome?

Answer 29

Hysterectomy

Question 30

What chemoprevention is done in lynch syndrome?

Answer 30

Low dose aspirin