Impact of a positive test result on me

Find out what discovering a 'mutation present' may mean for your treatment and the impact this could have on your risk of developing other cancers.

If you've been told there is a known mutation present (sometimes called a positive test result), you'll be told whether you have a mutation in your BRCA1 or BRCA2 gene.

The result will have an impact on your risk of developing other cancers, the risk of your family members developing cancer, and it may also have implications for your treatment for ovarian cancer. You will receive more counselling to explain the impact of this result.

The genetic counsellors were brilliant and very sensitive in the way they approached it. They offered further support and counselling.


How might I feel?

Naturally people can have very different feelings and reactions when they find out they have a gene mutation that explains their cancer diagnosis. Initially many women feel shock, anger or anxiety. Some people expect to have a gene mutation and are glad to have an explanation for the cancers in their family.

It adds another dimension to the journey, just when you think you're through it and can get off the wheel; finding out about BRCA throws you off kilter. It's the hardest part to deal with because you know cancer is not going away.


I feel like I've been diagnosed all over again, which sounds dramatic, but I was really shocked. I got over this shock by reassuring myself that at least my children would know about their risk.


If I'm honest, knowing I have a faulty gene has given me a sense of relief because it helped explain why I was unlucky to get cancer twice. But then I realised the implications for my family.


With time, most women adjust to this new information. Additionally, many are pleased that although it does not change their own diagnosis, there's important information available for other family members.

What's the impact on my treatment?

There's ongoing research and clinical trials into new treatment options for women with ovarian cancer who carry known mutations in the BRCA1 or BRCA2 gene. Studies indicate that the prognosis (prediction of how your ovarian cancer might change in the future) for BRCA1 or BRCA2 carriers may be better than for those with no gene mutation because carriers have an increased responsiveness to specific therapies. We talk more about the impact of having a BRCA1 or BRCA2 gene mutation on your treatment in our genetic testing guide [PDF].

My sister pointed out that now she can be monitored and will not have to go through the same as me.


It's important for you and your loved ones to remember that they can't control the genes you inherit from your parents or the ones you pass on to your children.

I felt a bit guilty that I could have passed this on to my children, but you can't choose what genes you pass on.


You'll have the option of a follow up appointment with your local clinical genetics service to further discuss how you are feeling and the impact the result can have on you and your family. They will be able to provide you with further information and direct you to where you can access further support.

Drug treatment

PARP inhibitors

If you have a BRCA gene mutation found by either germline or somatic testing it may affect your treatment for ovarian cancer. Targeted cancer drugs called PARP inhibitors (PARPi), which work by stopping cancer cells repairing themselves (so they die), are an exciting new treatment for women with recurrent ovarian cancer. Both women with and without a known BRCA mutation are now eligible for PARP inhibitors but your BRCA mutation result determines when you can receive them. Ask your oncologist for more information.

In England, Wales and Northern Ireland

If you have a BRCA mutation you may be able to access the following: 

  • Olaparib (Lynparza®) from the first line of chemotherapy onwards
  • Niraparib (Zejula®) from the second line of chemotherapy only
  • Rucaparib (Rubraca®) from the second line of chemotherapy onwards 
In Scotland

If you have a BRCA mutation you may be able to access: 

  • Olaparib from the first line of treatment onwards 

Taking part in clinical trials about treatment

The best time to look into participating in clinical trials is when you are first diagnosed with cancer, or when your cancer has come back, before starting treatment. Some studies have restrictions on the number or the types of cancer treatments that you've had before. Explore our clinical trials information or talk to your clinician about research on PARP inhibitors and other studies specifically designed for people a with BRCA1 or BRCA2 mutation or hereditary ovarian cancer.

I was diagnosed with ovarian cancer in 2009, and subsequently tested positive for a BRCA1 mutation. Following surgery and chemotherapy, I had about 10 months of remission before the cancer returned. I then joined a clinical trial for a PARP inhibitor rather than have more chemotherapy. I was happy to be generally living a normal life with no nasty side effects; my cancer shrunk to 'non-measurable disease', and my CA125 tumour marker went from 204 to 10. I am very grateful for the trial that gave me a fantastic year without chemo. Although the drug stopped working for me after 10 months, it is still working for others, and I am hopeful that my involvement helps others (I have two BRCA-positive daughters).


Tumour profile testing

All tumours have genetic mutations that arise as the tumour develops. These are called 'somatic' mutations and are not present in the normal healthy cells of a person who has cancer. The inherited mutations referred to throughout the rest of this information which may increase the risk of developing cancer are known as 'germline' mutations.

When a tumour is removed during a biopsy or surgery, the tissue will be sent to a pathologist who will study the tissue under a microscope and arrange additional tests on the tissue to profile it. This tumour profiling test gives information about the cells in the somatic mutations, and can help the medical team identify which treatments the tumour is most likely to respond to, and in some cases whether the woman is eligible for certain clinical trials.

The risk of breast cancer

For women with ovarian cancer who have a mutation in the BRCA1 or BRCA2 genes, the risk of developing breast cancer is also increased. For a woman in the general population the lifetime risk of developing breast cancer is about 12 per cent (one in eight). If she has a BRCA1 or BRCA2 mutation, the risk is around 65 to 80 per cent. Remember, an increased risk does not mean you definitely will develop breast cancer.

A number of risk management options are explained in our genetic testing guide [PDF].

How can I manage my increased risk of breast cancer?

Your genetic counsellor will discuss with you the different ways of reducing your risk of developing breast cancer. There are three options to consider: screening, risk-reducing surgery and drug treatment. The choice will take into account your current health and predictions of whether your ovarian cancer might grow or change. You may also be referred to a family history breast cancer clinic where specialists in this area will take over your care.


The NHS runs a breast screening programme for women throughout the UK. Women between the ages of 50–70 are typically invited for breast screening every three years, but women at high risk can access screening tests before the age of 50 and any woman can request screening to continue after the age of 70.

Women with a BRCA1 or BRCA2 gene mutation will be considered for yearly MRI scans and mammograms from the age of 30-40 onwards. Ask your genetic counsellor for further information.

Screening aims to detect tumours that are too small to be felt by you or your doctor. Breast screening will not stop women from developing breast cancer, but it will help detect tumours at an early stage, when they are easier to treat.

My counsellor explained about the increased risk of breast cancer and that I should be screened every year.

Risk-reducing surgery: bilateral mastectomy (removal of both of your breasts)

For women with a BRCA gene mutation, having surgery to remove both your breasts may be an option to greatly reduce your risk of developing breast cancer.

Your medical team may recommend that you don’t have this surgery until after you have recovered from your ovarian cancer treatment. Risk-reducing breast surgery cannot guarantee that you will not develop breast cancer, but the risk afterwards is small enough that breast screening is not needed.

Most women are offered the option of having reconstructive surgery to rebuild both breasts using implants and/or tissue from another part of your body. This may be carried out at the same time as the natural breast tissue is removed, or it may be done at another time as a separate surgery.

Surgery will have a very big impact on you both physically and emotionally, especially following an ovarian cancer diagnosis. It is important that you take your time and discuss all the advantages and disadvantages with a counsellor and your medical team before making a decision.

My counsellor explained about the increased risk of breast cancer and that I should be screened every year.

Drug treatment and lifestyle choices

In some cases, 'chemoprevention' may be considered to reduce the risk of breast cancer. Chemoprevention is the use of drugs, vitamins, or other agents to try to reduce the risk of, or delay the recurrence of, cancer. This includes treatment with drugs such as tamoxifen, anastrazole and raloxifene.

Tamoxifen and anastrazole are usually used as treatments for breast cancer, and raloxifene is used to treat or prevent osteoporosis (bone thinning) after the menopause. In this situation they are given to reduce the chance of you developing breast cancer.

Your genetics doctor, genetic counsellor or breast cancer specialist can discuss this with you and give you written information on the absolute risks and benefits of chemoprevention, including the side effects of the drugs, and how much they might reduce the risk, before you make a decision.

Women with ovarian cancer who are carriers of a BRCA1 or BRCA2 gene mutation should be offered advice about other factors that may affect their risk of breast cancer. These include:

  • The use of the oral contraceptive pill, which has long-term protective effects for the risk of ovarian cancer but can increase the risk of breast cancer. (If a woman stops taking the pill, this increased risk of breast cancer drops down again.)
  • The use of hormone replacement therapy (HRT), which – depending on your clinical circumstances – may increase your risk of developing breast cancer. Your clinician should discuss with you whether the increased risk outweighs the benefit, and what alternatives there are.
  • Reducing how much alcohol you drink, stopping smoking, and maintaining a healthy weight through healthy eating and exercise to reduce your risk.

For the most up-to-date information about treatment options for women with a genetic mutation, please contact our support line.


Last reviewed: October 2020

To learn more about our review process, take a look at our information standards.