Implications for family members who have a positive test result

Find out about the risk-reducing options and other areas to consider for family members who've been found to have a 'mutation present' (they carry the BRCA1 or BRCA2 gene that increases their risk of developing cancer).

Risk-reducing options

If a family member has predictive testing and is found to carry a BRCA1 or BRCA2 gene mutation, they will have had genetic counselling to discuss the implications and risk-management options. In all cases, they will be supported in all of their decisions by a team of professionals.

Removal of both of ovaries and fallopian tubes: bilateral salpingo-oophrectomy

This operation will greatly reduce the risk of developing ovarian cancer and may, to a much lesser extent, reduce the risk of breast cancer, although the evidence is unclear about this.

There's still a small remaining chance of developing ovarian cancer after the surgery because microscopic cancer cells may have started to grow in the abdomen (tummy) or pelvis before the ovaries are removed, and these cells will not be removed during the operation.

Removal of both ovaries will mean the immediate start of the menopause. Your medical team will discuss the advantages, disadvantages and risks of taking hormone replacement therapy (HRT) to manage the side effects of early menopause.

In the future, it may be possible to have this surgery in two stages: firstly, removal of the fallopian tubes where the cancers are thought to arise and secondly, removal of the ovaries. This can delay the onset of the menopause while still protecting against the development of ovarian cancer.

My sister was diagnosed with breast cancer about a month before getting her BRCA result. She took immediate action, with a bilateral mastectomy and reconstruction. A few months after completing treatment, she had her ovaries removed, minimising her risk of having ovarian cancer. Six years later she remains cancer free. My niece plans to have surgery on completion of her family.

Adele
Contraceptive pill

Women who have ever used the oral contraceptive pill are less likely to develop ovarian cancer than women who have never used it. Using the contraceptive pill can reduce the risk of developing non-mucinous ovarian cancer (over 90 per cent of ovarian cancers diagnosed are non-mucinous) by as much as 50 per cent.

Although the contraceptive pill has been shown to reduce the risk of ovarian cancer, it's not suitable for all women and it can slightly increase a woman's risk of developing breast cancer, although this risk is reversible within ten years of stopping the oral contraceptive pill.

A woman thinking of taking the oral contraceptive pill should first discuss her options with her GP/breast team and/or genetic counsellor. 

Surveillance

Risk-reducing surgery is the best way to manage the risk of developing ovarian cancer if you have a mutation in your BRCA1 or BRCA2 gene but many people choose not to have this operation straight away.

Some people choose to wait because they want to have children, others may want to avoid early menopause and/or the symptoms related to menopause. Some people may not be well enough to have surgery and so want to wait until they are feeling well and the operation is less of a risk.

There's currently a clinical trial taking place to look at how effective surveillance (monitoring) is in people at high risk of developing ovarian cancer. This involves using regular CA125 blood tests to work out the chances of someone developing ovarian cancer. This doesn't prevent ovarian cancer but it does detect the cancer at an earlier stage than if no surveillance is done, so it could be a reassuring option until you are ready for surgery. You can find out more about this trial by visiting our clinical trials centre.

Family planning

The genetic counsellor will be able to provide more information to your family members about having children and the impact on the children they’ve had already.

The family planning options for men and women with a BRCA1 or BRCA2 mutation are:

  • To have children without any intervention – each child would have a 50 per cent chance of inheriting the mutation.
  • To not to have children at all.
  • Adoption.
  • Egg or sperm donation.
  • Pre-implantation genetic diagnosis (PGD). Some couples may choose this option to avoid passing the BRCA mutation to their children. PGD involves removing a woman's eggs to fertilise in a test tube (IVF). When the embryos start growing but are still tiny (at a few days old), a cell is removed and is tested for the hereditary condition. Once the genetic status is determined, the woman can have an embryo that does not have the condition put back to try to start a pregnancy.
  • Prenatal testing. Some couples may choose to get pregnant naturally and have a test during the pregnancy to see if the baby has inherited the BRCA1/BRCA2 mutation. The couple could then decide whether to continue with the pregnancy. This is not a common request from couples at risk of passing on a risk of cancer that develops in adults.

Your family members may want to discuss their options with their geneticist who can explain the implications and the funding options available, but it's important to note that there's no right or wrong answer.

I was originally told about the possibility of using PGD to have children early on when talking to a genetic counsellor about having the BRCA mutation. The genetic counsellor also told me about the other options including having children naturally in the hope that they would be born without the gene or conceiving naturally then having the embryo tested at 12 weeks. It was through her that I was referred onto a hospital that carries out PGD where I was further informed about PGD in detail.

All parents want to protect their children from harm and although I am aware that PGD can't get rid of all the health risks to my unborn child, it does mean that my child won't have the genetic make-up that puts it at such a high risk of breast and ovarian cancer. I also don't want them to have to make the decisions I've had to make on whether to have risk reducing surgery or not, or for them to have to decide on how to have children or for them to worry about it.

For me and my family using PGD means that the gene fault stops with me; future generations of my family will never have to worry about a gene that puts them at such high risk of cancer.

Carly

Insurance 

An open-ended agreement is in place guaranteeing that anyone who has had a predictive genetic test (for breast and ovarian cancer) can take out life and critical illness insurance cover without disclosing the results of the test. This agreement, known as the Code on Genetic Testing and Insurance, has been in place since October 2018 and will be reviewed every three years.

Check the Association of British Insurers (ABI) for the latest guidance.

 


This information is reviewed regularly and is in line with accepted national and international guidelines. All of our publications undergo an expert peer review and are reviewed by women with ovarian cancer to ensure that we provide accurate and high-quality information. To find out more take a look at our information standards.

Last reviewed: March 2020
Next review: April 2022