Genetic predisposition to cancer Flashcards
What are the types of cancer gene mutations?
Germline
Somatic
What causes family cancer syndromes?
Germline mutations
What do oncogenes cause?
Accelerated cell division
What does a mutation of tumour suppressor genes cause?
1st mutation- susceptible carrier
2nd mutation- cancer
What % of women with BRCA1 gene will get breast cancer?
60-80%
40-60% second primary
What % of women with BRCA1 gene will get ovarian cancer?
20-50%
When should hereditary cancer syndromes be suspected?
Cancer in 2 or more close relatives on same side of family
Early age at diagnosis
Multiple primary tumours
Bilateral or multiple rarae cancers
Characteristic pattern of tumours
Evidence of autosomal dominant transmission
What is the process of genetic testing?
FH
Risk estimation
Interventions
Genetic test is high risk
What are the benefits of genetic testing?
Identifies highest risk and non carriers
Early detection and prevention
What are the risks of genetic testing?
Doesn’t detect all mutations
Continued risk of sporadic cancer