Review Note
Last Update: 02/18/2024 05:30 AM
Current Deck: Part 2::2. Clinical oncology::Non-clinical topics
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ClinOnc | Other | Genetic counselling
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Genetic cancers
- 5% of cancers have germline mutations
- Others assocaite dwith familial predisposition in which specific mutaiton has not been detected
- Germline mutaiotns may be in:
- Oncogenes - RET oncogene in MEN2 syndrome
- Tumour suppressor genes: FAP, HNPCC, BRCA1/2, AT, Retinoblastoam, Li Fraumeni, VHL, Gorlin syndrome
Role of genetic testing
- Patient with a history of cancer → advise of inherited mutaiotn, genetic counselling and testing
- If mutation detected in individual → counseling and testing of family
- In individual with FHx of cancer → determine risk of germline mutation, genetic counseling and tesitng
- Implications for unborn baby
Role of genetic counseling
- Advise those at risk of mutation
- If low risk → no requirement for test
- In those at risk → advise of potential benefits and harms of testing
- Post-test counseling to discuss implications of result, positive or negatiev
- Discuss implications for other family members
Benefits
- Identify those with germline mutation → allows:
- Behaviour modification (e.g. no children)
- Screening (e.g. breast, ovary)
- Surveillance
- Prophylactic treatment (e.g. mastectomy, oophorectomy)
- Identify family members without mutation → peace of mind
Disadvantages
- Psychosocial impact
- Employment
- Insurance
- Person may never develop malignancy (unnecessary anxiety)
- Most mutaiotns ahve no definite evidence of improved outcome with intensive surveillance
- False positives and false negatives
Familial cancer clinic
- Goals
- Decrease morbidity and mortality of cancer by identifying patients wiht inherited predisposition
- Address concerns of people with FHx of cancer
- Functions
- Risk assessment
- Pre- and post-test counseling
- Identifying other famliy members
- Counsel regarding risk reduction, screening, prevention
- Follow-up
- Research
- Educate MDTs
- Advocacy and resources
- Members of clinic
- Genetic medical specialist
- Scientific staff
- Counsellors
- Care coordinator
- Data managers
- Process of risk assessment and testing
- Initial family history
- Validate FHx
- Risk assessment
- Advise on role of genetic testing
- Conduct genetic testing
- Post-test counseling
- Further planning and follow up +/- counseling of family members
Further information, not for memorising (no card)
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