Predisposition to cancer

Question 1

Germline mutations

Answer 1

Inherited from single alteration in egg or sperm
Are heritable
Cause cancer family syndromes

Question 2

Somatic mutations

Answer 2

Occur in nongermline tissues
Are nonheritable

Question 3

what is the cell cycle

Answer 3

Question 4

oncogenes

what do they do and give examples?

Answer 4

1st mutation leads to accelerated cell division

leukaemia
retinoblastoma

Question 5

Tumour supressor genes

Answer 5

1st mutation
- susceptible carrier
2nd mutation
- leads to cancer

Question 6

When to Suspect
Hereditary Cancer Syndrome

Answer 6

Cancer in 2 or more close relatives (on same side of family)
Early age at diagnosis
Multiple primary tumors
Bilateral or multiple rare cancers
Characteristic pattern of tumours (e.g. breast and ovary)
Evidence of autosomal dominant transmission

Question 7

what are guidelines for risk estimation of cancer

Answer 7

All Scottish genetics centres
Similar to UK National Guidelines
Recommended use by all doctors
Classify as gene carrier, high, medium or low
Low is low genetic risk-
similar to population average risk

Question 8

what is the cancer genetics process

Answer 8

Obtain detailed family history
Confirm diagnoses of cancer
Risk estimation
Counselling

Question 9

clinical genetics consultation components

Answer 9

Go through family history
Risk estimation
Explanation of basis of risk
Interventions
increased awareness of symptoms / signs
lifestyle - diet, smoking, exercise,
Prevention – oestrogen, aspirin use
screening
prophylactic surgery
Genetic testing - consider in high risk