BRCA 1 and BRCA 2 Hereditary Breast Cancer

  • BRCA1 and BRCA2:
    • Are genes that produce tumor suppressor proteins:
      • Which help repair damaged DNA
    • They are the most common gene alterations seen in the hereditary breast cancer population
      • They are associated with an increased risk of breast cancer:
        • Estimated to be 55% to 70% for BRCA 1 carriers and 45% to 70% in BRCA2 carriers by age 70
    • While both BRCA1 and BRCA2 mutations are associated with an increased risk of breast cancer:
      • BRCA1 breast cancers more commonly occur in younger, premenopausal women and are more likely to be triple negative
    • BRCA1 is associated with a higher risk of ovarian cancer compared to BRCA2:
      • With a lifetime risk of 40% to 45% in BRCA1 carriers compared to 15% to 20% in BRCA2 carriers
    • BRCA2 breast cancers:
      • More closely resemble the sporadic breast cancer pattern, with a predominance of hormone receptor positive cancers in women greater than 50 years
  • CHEK2 and PALB2:
    • Are moderate penetrance genes that are less common than BRCA mutations
    • Similar to BRCA 2 deleterious mutations:
      • CHEK2 and PALB2 mutations are associated with hormone receptor positive postmenopausal breast cancer
  • References
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1 thought on “BRCA 1 and BRCA 2 Hereditary Breast Cancer”

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