Medical Options for BRCA Carriers

 

1) Increased surveillance:

It is recommended that female BRCA carriers be vigilant in their screening for breast cancer. While breast cancer screening cannot prevent cancer, it can catch breast cancer at an early and treatable stage.

 

Screening for breast cancer includes:

Monthly breast self-examinations starting at age 18

Annual or semi-annual clinical breast exams starting at age 25

Annual mammography starting at age 30

Breast MRI starting at age 25

 

Screening for ovarian cancer includes*:

Transvaginal ultrasound

CA-125 blood test

Annual pelvic exams

 

*Screening for ovarian cancer has never been proven effective at catching ovarian cancer at an early and treatable stage, and is therefore not recommended for BRCA carriers.

 

2) Risk-reducing surgeries:

Bilateral mastectomy – Preventive removal of both breasts. This reduces a BRCA carrier's risk to develop breast cancer by up to 95%.

 

Bilateral salpingo-oophorectomy- Preventive removal of the ovaries and fallopian tubes. This outpatient surgery would reduce a BRCA carrier’s risk to develop ovarian cancer by 97-98% and for breast cancer by about 50%.

 

3) Preventative drug therapies:

Research has shown that certain medications have been implicated in reducing the incidence of breast and ovarian cancer in BRCA carriers. Tamoxifen, for example, has been proven to reduce the risk of breast cancer for women with BRCA mutations by more than half.

 

 

Male carriers of a BRCA mutation were shown to have an increased risk to develop breast, prostate, and pancreatic, among other cancers. Screening for these cancers should begin at age 40. Male BRCA carriers should be aware of self-exam techniques and the signs and symptoms of cancer.

 

Clinical decisions concerning surveillance and risk-reducing options may differ from person to person and consultation with a physician is encouraged.

 

Reproductive Options for BRCA Carriers

 

Some BRCA carriers want to ensure that they do not pass on their BRCA mutation to their children. Current technology allows for this through the process of Preimplantation Genetic Diagnosis (PGD).

 

To pursue PGD, if there is a known mutation in the couple, the couples would go through the in-vitro fertilization (IVF) process. The embryos created through this process would be tested for the BRCA mutation prior to being transferred to the woman’s uterus, and only those embryos without the BRCA mutation would be transferred. Currently, PGD may be used to screen for many genetic diseases aside from hereditary breast and ovarian cancer syndrome.