This ‘BRCA information hub’ provides informative videos on topics relevant to anyone interested in BRCA or who is a BRCA carrier.
Hereditary Cancer
- Most cancers are sporadic and are largely due to chance and external factors like the environment and lifestyle
- Between 6-19% of cancers are familial, meaning there is a strong history of cancer in a family. Some types of cancer are more strongly familial than others - breast, colon, thyroid and ovarian. Having a family history may increase you risk of breast cancer by 20-30%
- Around 6-8% of cancer’s are linked to faulty genetics/genes
-The two most common faulty genes linked to breast cancer are called BRCA 1 and BRCA 2. The faulty BRCA gene can be inherited from either the maternal or paternal side of the family
- Carrying a faulty BRCA gene can increase a person’s risk of developing cancer:
- These faulty BRCA genes have a 50% chance of being passed on to children of a carrier, male or female.
- Around 559 women in Northern Ireland have been tested positive for the BRCA 1 or 2 gene
- Preventative surgery can be an option for women who carry the BRCA 1 or 2 gene
- Other genes linked to a high risk of breast cancer include: TP53, PALB2 and PTEN
(This information has been derived from Prof Morrison, Consultant in Genetic medicine, Belfast City Hospital and his genetics team)
- Between 6-19% of cancers are familial, meaning there is a strong history of cancer in a family. Some types of cancer are more strongly familial than others - breast, colon, thyroid and ovarian. Having a family history may increase you risk of breast cancer by 20-30%
- Around 6-8% of cancer’s are linked to faulty genetics/genes
-The two most common faulty genes linked to breast cancer are called BRCA 1 and BRCA 2. The faulty BRCA gene can be inherited from either the maternal or paternal side of the family
- Carrying a faulty BRCA gene can increase a person’s risk of developing cancer:
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BRCA 1 gene – up to 88% risk of developing breast cancer and a 40-60% risk of developing ovarian cancer
-
BRCA 2 - 86% risk of developing breast cancer and 20-30% risk of ovarian cancer
- Pancreatic cancer is also linked to BRCA 1/2
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BRCA 2 - 20% risk of men developing prostate cancer, and 9% risk of male breast cancer
- These faulty BRCA genes have a 50% chance of being passed on to children of a carrier, male or female.
- Around 559 women in Northern Ireland have been tested positive for the BRCA 1 or 2 gene
- Preventative surgery can be an option for women who carry the BRCA 1 or 2 gene
- Other genes linked to a high risk of breast cancer include: TP53, PALB2 and PTEN
(This information has been derived from Prof Morrison, Consultant in Genetic medicine, Belfast City Hospital and his genetics team)
‘Hereditary cancer: Introduction to BRCA’ Dr Gillian Rea, Genetic Medicine
Examples of topics included within the video are:
- BRCA gene – terminology explained
- What is cancer
- Genetic testing
- Screening for BRCA carriers
- Referral for genetic testing self referral – email [email protected]
Examples of topics included within the video are:
- BRCA gene – terminology explained
- What is cancer
- Genetic testing
- Screening for BRCA carriers
- Referral for genetic testing self referral – email [email protected]
BRCA and men
Examples of topics included within the video are:
– Cancer risks associated with male BRCA carriers
– PSA testing
– Current research relating to prostate cancer
Cancer Screening for BRCA carriers
– Annual MRI breasts for ladies aged 30-40, MRI/mammography for age 40-50 yrs
– No screening test for ovarian – current research being carried out to identify a blood test for ovarian
– CA125 blood test not suitable for pre-menopausal women as it is not cancer specific and CA125 can be raised during ovulation, infection etc. Useful blood test for surveillance for ovarian cancer patients (post menopausal) and check if treatment is working.
– Prostate – PSA testing from 40+ for BRCA 2 men and from 50+ if the father has prostate cancer (or 10yrs younger than the father’s age at diagnosis).
Managing Premature Menopause
Examples of topics included within the video are:
– Menopause explained
– Implications of premature menopause
– Indications for HRT, bone health, menopause and sexual functioning
– Types of HRT and side effects
Reducing your cancer risk
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
Gynae and Surgical Options for BRCA Carriers
Examples of topics included within the video are:
– Overview of ovarian cancer
– Risk factors for BRCA carriers
– Risk reducing surgery and strategies
– Future developments
HRT and BRCA
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.
Breast Surgical and Reconstruction Options for BRCA Carriers
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.
Research: Blood test to detect Tubo-Ovarian Cancer
This talk given by Dr Laura Feeney, Medical Oncology Consultant and Clinical Lecturer, outlines ongoing research into blood testing for ovarian cancer
Frequently Asked Questions
- 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.
- 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]
- 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/
- 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.
- 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 https://actioncancer.org/info-hub/brca/
-See the video on breast surgical and reconstruction options for a full description https://actioncancer.org/info-hub/brca/
- 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
- 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:
- o https://www.cancer.gov/types/breast/risk-reducing-surgery-fact-sheet
- o https://www.macmillan.org.uk/cancer-information-and-support/worried-about-cancer/causes-and-risk-factors/risk-reducing-breast-surgery
- o https://www.cancer.gov/types/breast/risk-reducing-surgery-fact-sheet
- o 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
- 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 https://actioncancer.org/info-hub/brca/
- 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” https://actioncancer.org/info-hub/brca/
- 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 https://info.actioncancer.org/2004-2/
- 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/
- • 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/