BRCA1 Mutation Positive Screening Guidelines Board and Resident Review Points

      This post will cover the points you need to know for your board exams as well as for teaching residents on the daily rounds. Please don't use the information here to treat your patients.

Based on 2018 NCCN guidelines:

BRCA1 mutation positive breast cancer screening:

  • Clinical breast exam every 6 months beginning at age 25.
  • Breast MRI once a year beginning at age 25; Use mammogram, if MRI not available.
  • Add mammogram once a year beginning at age 30, separated 6 months from MRI. 
  • After risk-reducing mastectomy, only clinical breast exam is recommended.

BRCA1 mutation positive ovarian cancer screening:

  • Transvaginal ultrasound and serum CA 125 may be considered beginning at age 35 with regular surveillance until risk-reducing salpingo-oophorectomy between age 35-40.
  • Oral contraceptives (if not contraindicated) reduce the risk of ovarian cancer by approximately 50% when taken for 3-5 years.

BRCA1 mutation positive prostate cancer screening:

  • Digital rectal exam and serum PSA beginning at age 40 once a year
  • Refer to GU oncology for PSA >2.0

BRCA1 mutation positive pancreatic cancer screening:

  • People with a BRCA1 mutation and family history of pancreatic cancer may be candidates for pancreatic cancer screening.
  • People with a BRCA1 mutation and personal history of pancreatitis may be candidates for pancreatic cancer screening.
  • If screening is indicated, annual pancreatic cancer screening with either endoscopic ultrasound (EUS) or MRI should begin at age 50 or 10 years earlier than the youngest diagnosis in the family, whichever comes first.
Read more about hereditary cancer in this book

The information in this post is not for patients and shouldn't be used in treating patients. Please refer to your doctor for medical advice.