• Why you developed breast cancer and the best treatment options available for your breast cancer.
• Whether or not you are at higher risk of developing a new breast cancer in the future.
• Whether or not you are at high risk of developing other cancers, such as ovarian cancer.
• Whether or not your family members (both male and female) are at increased risk of developing breast and other cancers associated with these genes.

You may choose not to have a test at this time. Genetic testing is a personal choice. If you're unsure about genetic testing, our Genetic Counsellors are available to discuss your options with you. You can contact them via our helpline: 020 3437 6514.

• It can be emotionally difficult for some people to learn that they have a gene fault. Some people find this information overwhelming alongside their breast cancer diagnosis and treatment.
• Some people are concerned about the implications of a genetic test on their health insurance policy. We cover more about genetic testing and insurance here.
• If you already know that there is a gene fault in your family, you may wish to be referred by your GP directly to clinical genetics for testing and support.

1. You can have the genetic test through our programme.


• We anticipate the programme will close in July 2024, but it may close earlier.
• You may need to supply a new saliva/blood sample and consent form.


2. If you are eligible, you can have an NHS test at any time in the future. Your GP, or sometimes your oncologist, can refer you to your local clinical genetics services.


• Fewer than 1 in 5 (20%) women with breast cancer are eligible for standard NHS genetic testing.


3. Some women choose to pay for a genetic test from the private sector. We advise discussion with a trusted knowledgeable healthcare professional if you are considering this option as some private providers may offer unreliable tests and information.
   If you are interested in genetic testing, but would like to defer to a later date, you may speak to your clinician or call our genetics helpline to learn more about your options.

This genetic test helps find out if your breast cancer was caused by a gene fault. This information can help you and your clinicians make choices about treatments and/or breast surgery.

• Faults in BRCA1/BRCA2 genes are associated with a higher lifetime risk of breast cancer of approximately 70%. Meaning approximately 7 in 10 women with a BRCA1/BRCA2 gene fault will develop breast cancer.
• Faults in the other genes (eg ATM or CHEK2), also increase the breast cancer risk, but less than BRCA1/BRCA2.
• Breast cancer risk will also be influenced by other factors in addition to the gene fault, such as family history of cancer, personal diet, smoking, lifestyle and other risk factors.

There are different cancer risks associated with each of the seven genes on this test. If the genetic test finds that you have a gene fault, you will have appointments in Clinical Genetics and be given detailed information about your risks and management options related to that gene.

• The increased risk for developing a new breast cancer in the future varies gene-by-gene.
• Some of the genes are also associated with an increased risk of certain other types of cancer in the future.
  • For example, gene faults in BRCA1 and BRCA2 also increase the risk of ovarian cancer.
  • The table below indicates where gene faults are known to increase risks of different types of cancer for each of the seven genes.
  • The increased cancer risk varies for each of the cancer types and the genes.

If the genetic test finds that you have a gene fault, you will have an appointment with a BRCA-DIRECT genetic counsellor, further follow-up appointments in Clinical Genetics, and be given detailed information about your risks and management options related to your specific gene fault.

• Cancer risk management options are different for each of the seven genes on this test.
• Options may include additional screening (for example, additional mammograms) or surgery (for example, removal of breast tissue or ovaries).
• If a gene fault is found, we will refer you to your local clinical genetics service for follow up care and long-term management. Your team will discuss your personal cancer risks and provide you with more detailed information about the options for managing your risk, supporting you with making decisions, and accessing appropriate services.

• Surgical prevention: For women with a high risk of developing another breast cancer, the risk of developing a new breast cancer can be reduced by having an operation to remove one or both healthy breasts. This is called risk-reducing mastectomy. Various types of breast reconstruction are available following risk-reducing mastectomy.
  • Women with a new diagnosis of breast cancer and a gene fault may have the option to have both breasts removed (bilateral mastectomy) as part of their breast cancer surgical treatment, or more often at a later date.
  • Female relatives without cancer who have also inherited the same gene fault may also be offered a risk-reducing mastectomy.
• Screening: Women with a gene fault may be able to access more regular screening for breast cancer through scans and/or mammograms with the intention of picking up any new breast cancers at an early stage. The ages between which women receive extra screening varies depending on individual risks, taking into account additional risk factors.

• Women over the age of 40 may be offered an operation to remove their ovaries and the fallopian tubes (tubes which carry eggs to the womb). This is often done as keyhole surgery, where the surgeon only needs to make a tiny cut to remove the ovaries and fallopian tubes.

• Pancreatic screening is typically only offered as part of a research study, as there is no current NHS screening programme.
• Pancreatic screening involves scans or tests using an internal camera; it could be offered to certain people with a gene fault, especially if there is pancreatic cancer in the family.

• Research is still underway regarding the best way to screen for prostate cancer in men with gene faults and there is no current national NHS screening programme.
  • Men with certain gene faults may be offered an annual blood test. Additional screening using blood tests, scans and removal of samples (biopsies) from the prostate may be offered as part of a research study.

Gene faults are inherited. Meaning if you have a gene fault, other people in your family may also have the same gene fault. Your family members would be able to access genetic testing and options for managing their risk if they are also found to have the gene fault.

• Children: If you carry a gene fault each time you have a child, there is a 50% chance (1 in 2) you will pass on the gene fault to the child and a 50% chance (1 in 2) that you will not.
  
  
  
  • If you do not have children and are considering starting a family, there may be family planning options available to prevent passing on the gene fault, if you feel this is important to you.
  
  
• Your other first-degree relatives (siblings and parents) also have a 50% chance (1 in 2) of having the same gene alteration.
  
  Adult first-degree relatives can access a genetic test to see if they have the same gene fault (a process sometimes called cascade testing). Sharing of genetic information in your family can be done in discussion with you or through a process that will not personally identify you.
  
  They can access this testing in two ways:
  
  
  1. Contact our programme directly by contacting our helpline and speaking with one of our genetic counsellors. This option may only be available for a time-limited period whilst the BRCA-DIRECT programme is running.
  2. Ask their GP for a referral to their local clinical genetics service.
  
  
• Your second-degree relatives (aunts, uncles, grandparents) have a 25% chance of having the same gene fault.
  
  Typically, second degree relatives will only be offered this test after the first degree relative you both share has had a chance to consider if they want to have the genetic test (and been shown to have the same gene fault). In some instances, for example if that shared relative is no longer with us, they may still be able to access the genetic test, in the same two ways above.