Breast Cancer Genetics – Flashcards
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Knudson's 2-hit hypothesis
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1. sets stage for a more rapid accumulation of mutations in other genes, leading to cancer
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Multi-step process of cancer (Vogelgram)
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1. developed by Burt Vogelstein
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Taking the cancer pedigree - affected relative
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1. ovarian cancer typically misreported 2. patient in treatment - important for psychosocial reasons
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Models to assess breast cancer risk
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1. assess risk of cancer, not risk to carry a genetic mutation
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DCIS
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1. focus of DCIS is where lesion would form 2. may choose mastectomy (prevention) 3. considered affected in a cancer pedigree
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LCIS
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1. NOT considered affected in a cancer pedigree 2. considered at increased risk of cancer
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Variables that go into the Gail Model
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1. does NOT include - other cancers - 2nd degree relatives - paternal history - age at diagnosis in relative 2. can underestimate hereditary risk of breast cancer
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Candidates for chemoprevention
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1. 5-year risk of breast cancer ; 1.7%
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Claus Tables
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1. talk about lifetime risk (age 79)
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Prior Probability Models
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1. To determine pre-test chance that an individual will test positive for a BRCA1 or BRCA2 mutation 2. 5-10% risk considered reasonable to offer testing 3. moving away from these models and developing guidelines instead
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National Comprehensive Cancer Network (NCCN)
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1. know guidelines for liability reasons
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BRCA1/2 Associated Cancers: Lifetime Risks
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1. prostate cancers occur earlier (50s vs. 60s) 2. prostate cancer may be more aggressive
