Having a BRCA gene fault: Risk Management Options

Individuals with a BRCA gene fault can reduce their risk of developing cancer via risk reducing treatment and lifestyle changes. The options available differ for men and women.

Risk management options for Women

Breast Cancer

• Lifestyle changes e.g. eating a healthy well-balanced diet, doing regular exercise, maintaining a healthy weight, moderating alcohol intake, and not smoking 
• Enhanced breast awareness and regular self-examination
• Medical prevention with drugs such as tamoxifen or anastrazole. These reduce the risk of estrogen receptor positive (ER+) breast cancer.
• Enhanced breast cancer screening starting from the age of 25-30 including annual MRIs and Mammograms 
• Risk reducing surgery involving a bilateral mastectomy (removal of tissue from both breasts) and reconstruction

Ovarian Cancer

• Lifestyle changes as above
• Risk-reducing surgery – ovary and fallopian tube removal. This is typically not offered before the age of 35 due to premature menopause and family planning considerations
• As removal of ovaries at an earlier age can lead to early menopause, a new two step operation to remove the fallopian tubes first followed by the ovaries at a later state is available in a research study (called PROTECTOR) to reduce ovarian cancer risk.
• The NHS does not offer currently offer ovarian cancer screening as an effective cancer screening method which saves lives has not yet been established. This issue is being reviewed by NICE and updated advice will follow in 2024.. 
• There is some evidence that the contraceptive pill can reduce ovarian cancer risk. However, it may increase breast cancer risk. This should be discussed with a gynaecologist with expertise in this area. 

Pancreatic Cancer

• Lifestyle changes and enhanced symptom awareness
• The NHS does not currently offer pancreatic cancer screening as no effective cancer screening method has been found. There may be screening trials available for individuals with a gene gault to participate in.

Risk management options for Men

Breast Cancer

• Lifestyle changes as above
• Enhanced breast awareness and regular self-examination

Pancreatic Cancer

• Lifestyle changes and enhanced symptom awareness
• The NHS does not currently offer pancreatic cancer screening as no effective cancer screening method has been found. There may be screening trials available for individuals with a gene gault to participate in.

Prostate Cancer

• Males with a BRCA2 gene fault may be recommended to undergo annual PSA testing from the age of 40. This can arranged via the GP. Men considering PSA testing should discuss the pros and cons of the test with the GP before going ahead. You can read more about this here. 
• Screening trials are available for individuals with either a BRCA1 or BRCA2 gene fault to participate in. An example is the PROFILE study which offers screening to men with BRCA1 and BRCA2 gene faults from the age of 40.

Medical research and practice is continually evolving. The risk management options available to both men and women are likely to broaden in the near future. 

Couples in which one partner has a BRCA gene fault may wish to explore their options to avoid passing on the fault to their children.

There are several reproduction options available to these couples:

• Pre-implantation Genetic Diagnosis (PGD) used alongside IVF
• Prenatal testing
• Gamete donation

PGD involves undergoing the fertility treatment IVF (In-Vitro Fertilisation), but with the extra step of genetically testing the embryos before they are implanted back into the womb. Only the embryos which have not inherited the mutation are implanted. BRCA carriers who are interested in this option or the other options should discuss this with their genetic counsellor or clinical geneticist.

Other couples may choose to conceive naturally and allow their children the option of testing in adulthood.

In addition, females with a BRCA gene fault who are considering risk reducing surgery should consider the timing of this in relation to their childbearing.  This is something that should be discussed with a genetic counsellor or a gynaecologist with a special interest in this area.