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
    1. Germline - Hereditary, Informs future cancer risk and treatment decisions, Provides information for other family members
      1. Somatic - Acquired, Informs treatment decisions, Provides reassurance for family and future children
  • • 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
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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
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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
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