Options for Managing Risk for Female BRCA2 Mutation Carrier?

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

The following table gives you a perspective of the risk of developing cancers at different sites compared to the general population. (More detailed information can be obtained after a consult with our health professionals.)

Cancer BRCA2 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
11%
Ovarian/fallopian tube/
primary peritoneal
18%
Residual lifetime risk is dependent on age at consultation
1.2%
Primary peritoneal
(after removing fallopian tubes and ovaries)
<1% <1%
Pancreatic <5% 1.3%

Breast

Surveillance
Individualised surveillance is needed in families with a breast cancer diagnosed 35 years or under.

For an unaffected woman

  • Screening should start at 30 years.
  • Annual MRIs and mammograms (with or without ultrasound scans dependent on individual need) 30-50 years
  • Annual mammograms (with or without ultrasound scans dependent on individual need) 50 years onwards.

Risk Reducing Medications
Tamoxifen and raloxifene have been shown to reduce breast cancer risk in unaffected high risk women but they have side effects so there are risks and benefits and it may not suit everyone. Careful discussion with a specialist is required.

Risk Reducing Surgery
Bilateral risk reducing surgery will reduce breast cancer risk by around 90% dependent on the type of surgery. The greatest benefit is gained if surgery occurs at 40 years or younger. Breast self awareness should continue following such surgery.

Ovary

Surveillance
There is no effective surveillance.

For asymptomatic women, annual transvaginal ultrasound (TVS) and serum CA125 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 RRBSO.( Risk Reducing Bilateral Salpingo-opherectomyremoval of both fallopian tubes and ovaries)

Surgery
Recommend RRBSO after family completion or by age 40 yrs by a specialist that understands the condition and follows appropriate protocol RRBSO significantly reduces the risk of ovarian and fallopian tube cancer in BRCA2 mutation carriers. The residual risk of primary peritoneal cancer ( lining of the abdomen)is approximately 2%.

Management of Early Menopause
If risk reducing 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 cancelthe 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 assessment.

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

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