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BRCA2

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BRCA2

  • Pathophysiology
  1. BRCA2, like BRCA1, normally functions as a DNA repair gene, and in effect, a tumor suppressor gene
  2. Chromosome 13q12-13
  • Epidemiology
  1. Responsible for a third of hereditary Breast Cancer
  2. Affects Male as well as Female carriers of the genetic mutation
  • Associated Conditions
  1. Ovarian Cancer risk: 11-20% (less than BRCA1)
    1. Typically high grade serous Phenotype
  2. Prostate Cancer: <40%
  3. Pancreatic Cancer: 2 to 7%
  4. Breast Cancer in Men: 5 to 10%
  5. Breast Cancer risk in women: 40 to 70% (up to 90% in some studies)
    1. Typically sporadic Phenotype (ER positive, HER2 negative)
    2. Second primary Breast Cancer 12% within 5 years (40 to 50% at 20 years)
    3. Age 20-29: Relative Risk Breast Cancer 46
    4. Age 30-39 Relative Risk Breast Cancer 38
    5. Age 40-49: Relative Risk Breast Cancer 13
    6. Age 50-59: Relative Risk Breast Cancer 9.8
    7. Age 60-69: Relative Risk Breast Cancer 2.1
    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 265:2088 [PubMed]
  3. (1995) Lancet 346:544 [PubMed]
  4. Khan (2020) Am Fam Physician 103(1): 33-41 [PubMed]