This BRCA information hub brings together a range of clear, accessible videos designed to support individuals who want to learn more about BRCA genes and hereditary cancer risk. It is intended for anyone with an interest in BRCA, including those who may be considering genetic testing, have a family history of cancer, or have already been identified as a BRCA carrier. The videos cover key topics such as understanding what BRCA genes are, how inherited genetic changes can influence cancer risk, and the options available for screening, risk reduction, and ongoing support. By presenting expert information in an easy-to-understand format, this resource aims to help individuals make informed decisions about their health and feel more confident in navigating genetic services and support pathways.
Most cancers are sporadic, meaning they occur largely due to chance combined with external influences such as environmental and lifestyle factors. However, between 6–19% of cancers are considered familial, where there is a strong pattern of cancer within a family. Certain types, including breast, colon, thyroid, and ovarian cancers, show stronger familial links, and having a family history can increase an individual’s risk of developing breast cancer by approximately 20–30%. In a smaller proportion of cases—around 6–8%—cancers are directly associated with inherited faulty genes.
Among these genetic causes, the most common genes linked to breast cancer are BRCA1 and BRCA2, which can be inherited from either the maternal or paternal side of the family. Carrying a faulty BRCA gene significantly increases cancer risk. For individuals with a BRCA1 mutation, the risk of developing breast cancer can be as high as 88%, with a 40–60% risk of ovarian cancer. Those with a BRCA2 mutation have an estimated 86% risk of breast cancer and a 20–30% risk of ovarian cancer. Both genes are also associated with an increased risk of pancreatic cancer. In men, BRCA2 mutations are linked to a 20% risk of developing prostate cancer and a 9% risk of male breast cancer. Importantly, these gene mutations have a 50% chance of being passed on to children, regardless of gender.
In Northern Ireland, approximately 559 women have tested positive for a BRCA1 or BRCA2 mutation. For those identified as carriers, preventative options such as risk-reducing surgery may be considered. While BRCA1 and BRCA2 are the most well-known, other genes—including TP53, PALB2, and PTEN—are also associated with a high risk of developing breast cancer. This information is based on insights from Professor Morrison, Consultant in Genetic Medicine at Belfast City Hospital, and his genetics team.
The video “Hereditary Cancer: Introduction to BRCA” by Dr. Gillian Rea from Genetic Medicine provides an overview of key concepts related to hereditary cancer and BRCA genes. It explains important terminology associated with BRCA, outlines what cancer is, and discusses the role of genetic testing in identifying inherited cancer risk. The video also covers screening options available for individuals who carry BRCA gene variants, as well as pathways for referral to genetic services. Information is included on how individuals can self-refer for genetic testing, with contact available via email at [email protected].
The video includes topics such as cancer risks associated with male BRCA carriers, PSA testing, and current research relating to prostate cancer.
Screening recommendations for BRCA carriers vary depending on age and cancer type. For women, this includes annual breast MRI scans between the ages of 30 and 40, followed by a combination of MRI and mammography from ages 40 to 50. Currently, there is no effective screening test for ovarian cancer, although research is ongoing to develop a reliable blood test. The CA125 blood test is not considered suitable for pre-menopausal women, as it is not cancer-specific and levels can be raised during normal processes such as ovulation or due to infection. However, it can be useful in post-menopausal women for monitoring ovarian cancer and assessing how well treatment is working. For prostate cancer, PSA testing is recommended for men with BRCA2 mutations from age 40 onwards, and from age 50 for those with a family history of prostate cancer, or 10 years earlier than the age at which their father was diagnosed.
The video covers a range of important topics related to menopause, including an explanation of what menopause is and the effects of premature menopause. It also explores the indications for hormone replacement therapy (HRT), as well as its impact on bone health, menopausal symptoms, and sexual functioning. In addition, the different types of HRT and their potential side effects are discussed.
Research has shown that in general, exercising regularly and eating a healthy diet can lower your risk of developing cancer. Thirty minutes of daily physical exercise can reduce your risk of breast cancer by at least 20%. Carrying excess weight can increase your risk of cancer – having a body mass index of over 30 increases your risk by 25%
Examples of topics included within the video are:
– Impact of smoking, physical activity, alcohol, weight/ diet on cancer risk
The video provides an overview of ovarian cancer, including key information about risk factors for individuals with BRCA gene mutations. It explores available risk-reducing strategies, such as preventative surgery, and highlights ongoing research and future developments aimed at improving detection, treatment, and outcomes.
This talk given by Dr Joanne McManus, Consultant Gynaecologist & Specialist in Reproductive Medicine, outlines a range of options for treating early/premature menopause caused by surgical removal of the ovaries.
This talk given by Mr Chris Hoo, Oncoplastic Breast Surgeon and Mr Gareth Irwin, Consultant Surgeon, outlines the options available for BRCA carriers for preventative breast surgery and reconstruction.
This talk given by Dr Laura Feeney, Medical Oncology Consultant and Clinical Lecturer, outlines ongoing research into blood testing for ovarian cancer.
– Information on genetic testing and hereditary cancer can be found on the Belfast Trust Clinical Genetics department website at: https://belfasttrust.hscni.net/service/laboratory-services/clinical-genetics/
– Speak to your GP who will ask about your family history of cancer and where appropriate refer you to the Family history clinic in the hospital. Once you have been assessed there, then if appropriate you will be referred to the Genetics team.
– The Family History team can make a referral to genetics if they think this is appropriate.
– If a family member has already been assessed by the Genetics team, and if a mutation has been identified, you may be eligible for a predictive test. Patients in this group can self-refer, following the guidance on our website.
– Genetic testing for cancer predisposition is carried out by looking at curated gene panels. Each panel contains a different set of genes and there are panels for many hereditary cancers, e.g. breast cancer, ovarian cancer, colorectal cancer. When you are assessed by the Genetics team, they take into account any personal history of cancer and also your family history of cancer. If they are unsure which panel is most appropriate, perhaps because of a family history that includes different types of cancer, it is possible to do an extended gene panel or test more than one panel at the same time. Information leaflets will be provided explaining genetic testing in more detail and there are also gene-specific information leaflets if a pathogenic, i.e. disease-causing, mutation is found.
– Sometimes a patient may not be eligible for genetic testing or sometimes further genetic testing can be helpful at some point in the future. For this reason, it is always important to go back to the Genetics team if your personal history, or family history, of cancer changes. The genetics team can be contacted by email at [email protected]
The general population risk for pancreatic cancer is around 1% by 80 years of age. There is a slight increased risk of pancreatic cancer with BRCA1 and BRCA2 genes, with the risk being higher for males and, also, for BRCA2 patients. A male BRCA2 carrier has an approximate risk of pancreatic cancer of up to 5% by 80 years of age.
– At present, there is no effective screening for pancreatic cancer but all patients should be symptom aware. Research in this area is on-going, and, for patients with a personal or family history of pancreatic cancer, the Genetic team may consider referral to the Europac Study – EUROPAC Researching Hereditary Pancreatic Diseases
– Symptoms of Pancreatic cancer include:
o Yellowing of the skin or eyes
o Pain on eating / fullness
o Upper abdominal pain
o Mid-back pain – can radiate to stomach
o Indigestion not responding to prescribed medicine
o Pale and smelly stools that don’t flush easily
o Fatigue
o Diabetes – new onset not associated with weight gain
o Unexplained weight loss and loss of appetite
o Low mood or depression
For more information go to: https://www.nipanc.org/
Our DNA sequence is entirely unique, and there is no single reference sequence that would be considered the ‘most healthy’. The DNA sequence varies between all individuals and these variants, ‘spelling mistakes’ within the sequence, are usually benign and cause no ill health. Sometimes they damage the gene sufficiently to cause symptoms and are then referred to as pathogenic. New variants occur at conception, which we refer to as de novo. Patients with a de novo pathogenic variant, would not be expected to have any family history of cancer.
You will receive the result of genetic testing from the clinician who organized the test. If this was not the Genetics team, you will be referred to the Genetics team. At that stage, further information may be requested, for example family history details. You will then be seen by the Genetics team and referrals made for screening and discussion of prophylactic surgery, depending on your personal history and age. We will discuss reproductive options. We will also discuss cascade testing, where we would consider who else in your family may be eligible for a predictive test, to see if they also carry the familial mutation.
Screening can be initiated based on a family history, regardless of the outcome of genetic testing, or even if genetic testing has not been carried out. The Family History clinic, or the Genetics team, will assess your personal and family history of breast cancer. If you do not carry a mutation that confers a very high risk of breast cancer, screening can still be initiated. Those considered at moderate or high risk of breast cancer are referred for annual mammograms from 40 years of age.
Options are: Implants (over/under the muscle; or use existing tissue from the back (LD flap) or from the lower abdomen (DIEP flap).
See the video on breast surgical and reconstruction options for a full description above.
– Implants have a silicone outer shell and contain either silicone gel or salt water.
– Implants in theory should last for life. Sometimes however they need replaced due to a range of factors including significant weight gain, if they become encapsulated etc.
– The benefits of having breast reconstruction using implants is that it is a simpler, shorter operation with shorter recovery times. There is less scarring on the breast and no other operation/scarring needed elsewhere on the body.
– Risks with implants include: infection, wounds not healing properly, the body rejecting the implants forming a capsule /scar tissue around the implant. For more information go to https://www.macmillan.org.uk/cancer-information-and-support/breast-cancer/breast-reconstruction-using-implants
– There is a small risk (5%) of getting cancer after having risk reducing mastectomy. For more information go to:
– https://www.cancer.gov/types/breast/risk-reducing-surgery-fact-sheet
– https://www.macmillan.org.uk/cancer-information-and-support/worried-about-cancer/causes-and-risk-factors/risk-reducing-breast-surgery
– The risk is around 7-8% of developing breast cancer with nipple sparing surgery.
– Whilst the risk of breast cancer after double mastectomy is very low, it is still important to check for any new lumps around the breast area, the nipples if they are still present, and under the arm. Also check for any change in shape, change in skin (dimpling, redness), nipple discharge, rash. For more information go to https://info.actioncancer.org/breast-awareness-screening
– In BRCA carriers, the majority of ovarian cancers starts in the fallopian tubes before eventually spreading to the ovaries by the age of 75 (risk is cumulative with age)
– With BRCA 1 there is up to a 50% risk of getting fallopian tube /ovarian cancer.
– With BRCA 2 there is up to a 25% risk of fallopian tube / ovarian cancer.
– With Lynch syndrome/MSH2 there is up to a 40% risk (risk is cumulative with age)
– There is currently no screening for fallopian tube/ovarian cancer
Risk reducing surgery includes bilateral salpingectomy (removal of fallopian tubes)/oophorectomy (ovaries). These options are discussed in full in the “Gynae and surgical options” video above.
For BRCA 1 the Belfast HSC Trust suggest waiting for removal of tubes and ovaries until over the age of 40. With BRCA 2 they recommend over the age of 45. This decision is made based on when levels of risk begin to rise. Fallopian tubes can be removed at an earlier age if the patient has completed their family. The doctors take into account fertility desires of the patient and family history, in particular the age of diagnosis of the incident case in the family.
There is no preimplantation genetic testing is available in NI. However, you can be referred via the Genetics Department to an IVF Centre in England that provides PGD. The NHS currently fund 3 IVF cycles with PGD in a clinic in England.
See the videos on “HRT and BRCA” and “Managing premature menopause above.
There is no national screening recommended for BRCA1 male carriers as the risk of prostate cancer does not appear to be higher than for the general population. However, this is guided by the family history. If there is a family history of prostate cancer, particularly in a first degree relative, patients should discuss PSA testing with their GP. Annual PSA testing may then be appropriate, beginning 10 years before the age of onset of the relative’s prostate cancer.
BRCA2 is associated with an increased risk of prostate cancer. PSA testing should be carried out annually from 40 years onwards. It is important to be aware of the symptoms of prostate cancer – see Action Cancers videos on prostate cancer here
– The Government has created a “Code on Genetic Testing and Insurance: 3-year review 2022 ( https://www.gov.uk/government/publications/code-on-genetic-testing-and-insurance /). The Code commits insurance companies to:
– • treat applicants fairly and not require or pressure any applicant to undertake a predictive or diagnostic genetic test
– • not ask for, or take into account the result of a predictive genetic test, except when the life insurance is over £500,000
– • not ask for, or take into account, the result of any predictive genetic test obtained through scientific research
– In addition, ABI has information on their website regarding the Code on genetic testing and insurance https://www.abi.org.uk/data-and-resources/tools-and-resources/genetics/code-on-genetic-testing-and-insurance/
