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Surgical Vignette: BRCA1 Gene

  • Inherited in an autosomal dominant fashion
  • BRCA1 is located on chromosome arm 17q
  • BRCA1 functions as tumor suppressor gene
  • Female mutation carriers have been reported to have up to a 85% lifetime risk (for some families) for developing breast cancer and up to a 40% lifetime risk for developing ovarian cancer.
  • BRCA1-associated breast cancers are invasive ductal carcinomas, are poorly differentiated, are majorly hormone receptor negative and have a triple receptor negative profile (immunohistochemical profile: ER-negative, PR-negative and HER-2-negative)


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