BRCA 1 and BRCA 2 Genes

  •  BRCA 1 and BRCA 2 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 by age 70
      • 45% to 70% in BRCA 2 carriers by age 70
    • While both BRCA 1 and BRCA 2 mutations are associated with an increased risk of breast cancer:
      • BRCA 1 breast cancers more commonly occur in:
        • Younger
        • Premenopausal women
        • Are more likely to be triple negative
        • High grade lesions
    • BRCA 1 is associated with a higher risk of ovarian cancer compared to BRCA 2:
      • With a lifetime risk of 40% to 45% in BRCA 1 carriers compared to 15% to 20% in BRCA 2 carriers
    • BRCA 2 breast cancers more closely resemble the sporadic breast cancer pattern:
      • With a predominance of hormone receptor positive cancers in women greater than 50 years
  • CHEK 2 and PALB 2 are moderate penetrance genes:
    • That are less common than BRCA mutations
    • Similar to BRCA 2 deleterious mutations:
      • CHEK 2 and PALB 2 mutations are associated with:
        • Hormone receptor positive postmenopausal breast cancer
  • References:

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