Risk Management for Female BRCA 2 Mutation Carrier

These recommendations are for women who have not been affected by a relevant cancer. Individualised surveillance should be made for affected women based on their own post treatment plan.

Exclusion criteria:

  • A female BRCA2 mutation carrier affected by breast or ovarian cancer
  • High risk breast cancer family with uninformative BRCA result or no DNA testing available.
  • High risk breast and ovarian cancer family with uninformative BRCA result or no DNA testing available.
Cancer BRCA1 carrier
up to the age of 70 yrs
General population
up to the age of 85 yrs
Breast 49%
Residual lifetime risk is dependent on age at consultation
Ovarian/fallopian tube/
primary peritoneal
Residual lifetime risk is dependent on age at consultation
Primary peritoneal
(post RRSO)
<1% <1%
Pancreatic <5% 1.3%

Breast Recommendations

Risk Reducing Surgery
Consider bilateral mastectomy followed by self surveillance of chest wall


  • in families with breast cancer <35 yrs, individualised screening recommendations may apply
  • screening should start at 30 yrs
  • 30-50yrs – annual MRI+mammogram (+/- US)
  • >50 yrs annual mammogram +/- annual US + Clinical breast examination
  • pregnant – no MRI or mammogram, consider US


Careful assessment of risks and benefits in the individual case by an experienced medical professional required when considering the use of medication, such as tamoxifen or raloxifene to reduce risk of developing
breast cancer in unaffected women. See Cancer Australia Risk-reducing medication resource.

Ovary Recommendations
Surveillance using CA125 blood tests and abdominal ultrasound scans are not recommended.

For asymptomatic women annual transvaginal ultrasound (TVS) and serum CA125 levels have poor sensitivity and specificity for ovarian cancer. They do not reliably detect ovarian cancers at an early stage, nor do they affect outcomes. This is true of women in the general population and women at high risk of hereditary ovarian cancer. Effective ovarian cancer risk management relies on RRSO.

Recommend RRBSO after family completion or by age 40 yrs with peritoneal lavage and close histological examination to exclude occult malignancy.

RRBSO (Risk Reducing Bilateral Salpingo-opherectomy) significantly reduces the risk of ovarian and fallopian tube cancer in BRCA1 mutation carriers. The residual risk of primary peritoneal cancer after RRBSO is approximately 2%.

Management of Early Menopause
If riskreducing salpingooophorectomy (RRSO) is undertaken prior to menopause, Hormone Replacement Therapy (HRT) should be considered to minimise potential cardiovascular complications and bone loss associated with premature menopause, until the time of natural menopause (approx. age 50 yrs). This use of HRT is safe and does not abrogate the protective effect of RRSO on breast cancer risk in BRCA1/2 mutation carriers and it may even be associated with a decreased risk.

The use of combination HRT beyond age 50 yrs should only be considered after specialist advice.

Contraception and Fertility
Combination oral contraceptive pill (OCP) is not contraindicated. A recent metaanalysis showed that the use of OCP is not significantly associated with breast cancer in BRCA1/2 mutation carriers.