Options for Managing Risk for Female BRCA1 Mutation Carrier?

The recommendations below are only relevant if you have BRCA 1 mutation and 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 BRCA1 carrier
up to the age of 70 yrs
General population
up to the age of 85 yrs
Breast 57%
Residual lifetime risk is dependent on age at consultation
11%
Ovarian/fallopian tube/
primary peritoneal
40%
Residual lifetime risk is dependent on age at consultation
1.2%
Primary peritoneal
(after removing fallopian tubes and ovaries)
<2% <1%
Pancreatic May be increased 1.3%

Estimation of cancer risk varies according to different populations assessed.

Factors which influence risk include age of onset of the proband (the person at the starting point of the genetic study), family history and whether the proband had unilateral or bilateral breast cancer.

Breast Recommendations

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

For unaffected women

  • Screening should start at 30 years
  • Annual MRI’s and mamograms (with or without Ultra sound scans as dependent on individual) between 30 and 50 years
  • Annual mammograms (with or without ultra sounds) 50 years and onwards

Risk Reducing Medications:
Tamoxifen and raloxifene have been found to reduce breast cancer risk in unaffected high risk women but there are risks and benefits to this and it is not suited for everyone. Careful discussion with a medical professional is required

Risk Reducing Surgery:
Bilateral risk reducing mastectomy at 40 or younger confers the greatest reduction in risk by at least 90%. The total risk reduction is dependent on the type of surgery.

Breast self awareness should continue post 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-opherectomy – removal of 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 BRCA1 mutation carriers. The residual risk of primary peritoneal cancer (lining of the abdomen) after RRBSO is approximately 2%.

Management of Early Menopause
If 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 cancel 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 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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