How to Assess Family History for Breast Cancer?

  • In assessing a family history, consider how likely it is that there is a deleterious mutation, and how likely it is that your patient could carry that mutation
  • Factors to consider include:
    • Age at diagnosis
    • What degree relative is affected
    • If a cancer type is associated with a hereditary syndrome
  • Cancers suggestive of a hereditary mutation include:
    • Those occurring in young patients:
      • For example premenopausal cancers
    • Those occurring in 1st or 2nd degree relatives
    • Multiple generations with cancer
    • Multiple cancers in a single person
    • The presence of cancers associated with certain syndromes
  • References
    • Daly MB, Axilbund JE, Buys S, Crawford B, Farrell CD, Friedman S, et al. Genetic/familial high-risk assessment: breast and ovarian. J Natl Compr Canc Netw. 2010;8(5):562-594.
    • Domchek SM, Gaudet MM, Stopfer JE, Fleischaut MH, Powers J, Kauff N, et al. Breast cancer risks in individuals testing negative for a known family mutation in BRCA1 or BRCA2. Breast Cancer Res Treat. 2010;119(2):409-414.
    • Streff H, Profato J, Ye Y, Nebgen D4, Peterson SK5, Singletary C, et al. Cancer Incidence in first- and second-degree relatives of BRCA1 and BRCA2 mutation carriers. Oncologist. 2016;21(7):869-874.
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