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BRCA1

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BRCA1

  • Pathophysiology
  1. BRCA1, like BRCA2, normally functions as a DNA repair gene, and in effect, a tumor suppressor gene
  2. Chromosome 17q21
  • Epidemiology
  1. More common in Ashkenazi Jewish women
  2. Much less effect in males compared with BRCA2
  3. Responsible for a third of hereditary Breast Cancer
  • Associated Conditions
  1. Ovarian Cancer risk: 18 to 40% (up to 54% in some studies)
    1. Typically high grade serous Phenotype
  2. Prostate Cancer: <30%
  3. Pancreatic Cancer: 1 to 3%
  4. Breast Cancer in Men: 1 to 2%
  5. Breast Cancer risk in women: 50-80%
    1. Triple negative Breast Cancer in 80% of cases
    2. Second primary Breast Cancer 27% within 5 years
    3. Age 20-29: Relative Risk Breast Cancer 106
    4. Age 30-39 Relative Risk Breast Cancer 44
    5. Age 40-49: Relative Risk Breast Cancer 15
    6. Age 50-59: Relative Risk Breast Cancer 8.2
    7. Age 60-69: Relative Risk Breast Cancer 2.8
    8. Chen (2006) j clin oncol 24(6): 863-71 [PubMed]
    9. Metcalfe (2018) Clin Genet 93(5): 1063-8 [PubMed]
  • References
  1. Lypas (2018) Forum of Clinical Oncology 7(2): 16-24
  2. (1994) Science 266:66 [PubMed]
  3. (1995) Nat Genet 11:198 [PubMed]
  4. Khan (2020) Am Fam Physician 103(1): 33-41 [PubMed]