Recommendations for individuals carrying BRAC mutations

Surveillance and prophylaxis for healthy BRAC-1 and BRAC-2 mutations carriers, or women who survived breast and/or hereditary ovarian cancer 


Surveillance


Breast cancer surveillance:

  • Physical examination (whether done by the woman or her doctor) and imaging tests should begin 5-10 years before the age their youngest relative to develop breast cancer was at diagnosis. Both exams are mandatory from the age of 25;
  • The physical exam should be done every 6 months, and the imaging tests annually;
  • The recommended imaging tests are Magnetic Resonance Imaging (MRI) and Digital Mammography; 
  • The MRI should be interpreted by the same radiologist who performs the mammography;
  • A biopsy should be performed on any worrying lesion detected by MRI;
  • A breast ultrasound can be considered to complement the two previous exams.


Gynecological surveillance:

  • It should start at the age of 35, be repeated every 6 months, and include a transvaginal ultrasound with color Doppler and s serum CA 125 measurement (CA125- Cancer antigen 125, a protein found in very high concentrations in most ovarian cancer patients)
  • These breast and gynecological surveillance criteria also apply to survivors of hereditary breast and/or ovary cancer.



Prophylaxis


Prophylactic surgery of the breast and uterine appendages (the structures most closely related structurally and functionally to the uterus):

  • Surgical strategies that reduce risk include mastectomy and bilateral salpingo-oophorectomy (surgical removal of the ovaries and fallopian tubes); 
  • Bilateral salpingo-oophorectomy can be considered from the age of 35, or after having children
  • Prophylactic mastectomy reduces the risk of breast cancer by 90-95%, while bilateral salpingo-oophorectomy lowers this risk by 50% although a 4% risk of developing serous carcinoma of the peritoneum remains;
  • The decision to make a prophylactic surgery belongs exclusively to the woman once she is fully informed of the risks, benefits as well as of the different alternatives for surveillance and prevention;
  • The surgical technique used for the mastectomy must keep as much skin as possible, be adequate to the anatomy of the breast and follow the will of the patient;
  • Breast reconstruction should be done immediately if possible.
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