Inherited cancer genetics Flashcards
1
Q
What are the 2 types of Mutation?
What is Multifactorial/Polygenic Familial Risk?
How do you identify patients with a higher genetic predisposition to cancer?
A
- Germline - Hereditary, Informs future cancer risk and treatment decisions, Provides information for other family members
- Somatic - Acquired, Informs treatment decisions, Provides reassurance for family and future children
- Germline - Hereditary, Informs future cancer risk and treatment decisions, Provides information for other family members
- • No single high-risk gene identified
• Risk conferred through multiple lower-risk genetic and environmental factors - • Family history - Cancer type, Age of onset, Multiple similar cases
• Syndromic features
• Tumour testing
• Pathology of cancer - Cancer type and the gene affected
2
Q
Outcomes of diagnostic genetic testing:
What do you do when no pathogenic variant is identified?
What do you do when a variant of uncertain significance is identified?
What do you do when a Pathogenic variant is identified?
A
- Manage on basis of family history and personal diagnosis
- • Analyse variants
• Try to get information to help classify a variant
• Manage on basis of personal and family history - • Manage as per gene-specific protocol
• Can offer cascade screening to relatives
3
Q
Examples:
How do you manage a patient with Hereditary Breast and Ovarian cancer?
How do you manage a patient with Lynch Syndrome?
A
- • Screening
• Risk-reducing surgery
• Chemoprevention - • Screening - Colorectal, Gastric, Symptom awareness
• Risk-reducing surgery - Hysterectomy +/- removal of both ovaries (BSO)
• Chemoprevention - Low dose aspirin
• Cancer management