BRCA FAQ’s

There is a huge amount of uncertainty related to a positive BRCA1 and BRCA2 gene diagnosis. During our  BRCA webinar, you submitted some of your questions and our panel of experts have answered them.

2021 Webinar:

Questions for the 2021 Webinar

Answered by Shirley McQuaid:

With BRCA 2 gene, should I be put on Tamoxifen to decrease chances of breast cancer?

Tamoxifen blocks oestrogen receptors in breast tissue so can reduce the risk of oestrogen receptor positive cancer developing. However, there is a significant risk of a non hormonal cancer occurring – some studies suggest around 25% where Tamoxifen would be of no benefit. The anti oestrogen effect on the rest of the body causes symptoms similar to menopause so hot flushes, tiredness, dry skin, vaginal dryness and loss of libido. In addition, it can cause nausea and constipation. There is also a small risk of blood clots, stroke and cancer of the lining of the uterus. It is essential to use very effective non hormonal contraception usually a copper intrauterine device.  Bilateral mastectomy reduces the risk of both hormonal and non hormonal cancers and once you have recovered from the surgery there are no long term physical health implications. The risks and benefit should be talked through with your doctor.

 

Hi, enjoying all so far. I was diagnosed after a lumpectomy and wanted to get preventative surgery but it has been delayed because of COVID. Are there any politicians or relevant people/ women like me I can speak to?

The Dept of Health set up a Women’s Health Task force in 2019 and they are contactable at the following email address: [email protected]

There is a Health Committee in the Dail – Roisin Shorthall is a member and she would certainly listen and might well bring it to the attention of politicians. Perhaps the Marie Keating Foundation could put you in contact with other women with the same issue so that you could make a joint approach.

There have been severe impacts on many aspects of the health service over the last year and you are unfortunately caught up in the reduction in services.

 

How is risk of osteoporosis countered with early, surgically induced menopause?

HRT is commenced within a few days of surgery. Removal of the fallopian tubes and ovaries can be done as a day case with keyhole surgery and recovery is usually very straightforward with the woman up and about within a short time. You remain on HRT until age fifty then have a DEXA bone density scan done to see how your bones compare with other women of the same age. If all is normal then a repeat DEXA two years off HRT can be done to see how much of a drop in density has occurred. If you reach the criteria for treatment for osteoporosis then there are several options available in the form of injection or tablets.

It’s important that lifestyle issues are part of the management. Exercise for at least thirty minutes five times a week and ensure your diet contains plenty of calcium. You might also consider vitamin D supplements at least for the winter months. Limit alcohol intake and do not smoke cigarettes.

Any advice on HRT when having ovaries removed in early 40’s – people say introducing hormones takes away from the point of the surgery?

This situation is addressed directly in the British Menopause Society Consensus Statement on” The risks and benefits of HRT before and after a breast cancer diagnosis”. Their conclusion is “add-back HRT has not been shown to diminish the risk reducing benefit of BSO on subsequent risk of breast cancer diagnosis but clinical data is very limited”. The reason it is thought that there is no increased risk is that the level of hormone in HRT protects your bones and cardiovascular system but is less than your ovaries naturally produce.

Taking HRT after getting ovaries and tubes removed with BRCA2. Would you recommend or not?

Yes, I would recommend HRT. Bone is in a constant state of remodelling and repairing. Microfractures are constantly being repaired. Oestrogen helps this process. Other medication that is used for the treatment of osteoporosis doesn’t have quite the same effect so the bone formed when using these medications is not exactly the same as natural bone. There are no long term studies looking at the effect of treatment with these products from mid 30s onwards potentially for the next fifty years. The concern is that due to the way they act on the bone that even though they maintain bone density, bone strength may be impaired.

Is the oral contraceptive pill contra indicated for young women in early twenties who are not in the screening system at the moment?

The guidelines from the UK Faculty of Sexual and Reproductive Health do not list family history as a contraindication. They also state that the risk of ovarian cancer is halved in women on the contraceptive pill who are known carriers of a BRCA mutation. But then there is the increased risk of breast cancer. It is a difficult choice which can be completely avoided by having a copper coil fitted. My clinic fits more coils for women who have never had children than have had children and in those under thirty most choose a copper coil rather than a coil with hormones.

What is the latest opinion or recommendation on HRT? So much conflicting information on a regular basis?

HRT is safe for the vast majority of women. It is confusing because women have different medical histories and family history also needs to be taken into consideration. So for example a menopausal woman with a strong family history of osteoporosis should be advised to take HRT at least until age fifty for bone protection. There are different types of HRT and some progesterones are safer than others when it comes to any increase in breast cancer risk. Women who have had a hysterectomy do not need to take progesterone so oestrogen by itself does not increase risk.

After a diagnosis of hormone receptive breast cancer if you have had a double mastectomy and oophorectomy is HRT still not advisable for managing menopausal symptoms?

Unfortunately there are no good studies to make an informed decision. Three of the most recent studies were all stopped early because there seemed to be an increased incidence of breast cancer in one of the trials. A mastectomy removes the vast majority of breast tissue but there can be small pockets of tissue left.

How is the correct dose of HRT determined? I’m concerned that I’m on a dose of 50 mcg, but why I am not 100? With surgical menopause and hormones dropping so rapidly, why would someone not be automatically placed on the highest dose possible?

Generally an average strength dose is chosen initially and then titrated up or down depending on symptom relief / side effects. Women who have a surgically induced menopause typically require higher doses than those who have a natural menopause – because they are younger and the transition is more abrupt. You mention 50 mcg which is a patch delivered dose. Not everyone absorbs patches or gels at the same level so if you get to the 100mcg level but still have menopause symptoms it is worth exploring either a different brand of patch or trying the equivalent in gel formulation instead.

 

Answered by Niki Warner:

Newly diagnosed PALB2 re Nikki Project NUIG would this be similar experience of are they looking at other mutations?

The current research that I am conducting is specific to BRCA1/2 alterations, so I cannot answer with complete certainty about the experiences for individuals with a PALB2 mutation. With that being said, there might be similarities between the BRCA population and other groups with hereditary cancer conditions. I would imagine that if you are specifically advised by your medical team to undergo preventative surgeries to reduce cancer risk, it might be a similar experience to those that I detailed in my presentation. I would reiterate that I have not actively researched the experience of people with a PALB2 mutation, so that this is some informed speculation on my part!

 

Answered by Jessica Kavanagh:

How is insurance impacted by positive BRCA gene tests?

The Disability Act (2005) currently prohibits genetic test results being used in relation to insurance, a mortgage, a personal pension or employment therefore individuals with a BRCA1/2 gene alteration are not obliged to disclose her genetic test result to these parties or companies. Everyone has to answer honestly to questions re family history but companies are not allowed to ask about genetic testing or results. For more information, see: http://www.justice.ie/en/JELR/DisabilityAct05Guide.pdf/Files/DisabilityAct05Guide.pdf.

When you talk about genetic counselling, what does that look like to an individual patient?

Genetic counselling involves a consultation between a Genetic Counsellor and an individual/s who has been referred by a GP or Consultant for an appointment to discuss their family history and genetic testing. Appointments usually last 30-60 minutes and the Genetic Counsellor will make a plan for results from any testing carried out and will follow up with a letter as well. If a gene alteration is identified, Genetic Counsellors may offer a follow up appointment or phone call.

Hi, enjoying all so far. I was diagnosed after a lumpectomy and wanted to get preventative surgery but it has been delayed because of COVID. Are there any politicians or relevant people/ women like me I can speak to?

Unfortunately, Covid-19 has had an impact on wait times across the public and private healthcare sector. We are aware elective surgeries in particular have experienced long delays and as far as we know, the politicians are aware of this and are trying their best to improve the systems. We know that the HSE require additional funding and resources to improve wait lists. You could ask your GP or Consultant to make sure a referral has been sent in to the relevant surgeon/department for your surgery and perhaps request an estimated date to give some certainty as we know there is a lot of uncertainty out there at the moment.

If after testing you end up being BRCA negative but there is still a strong family history, is there any support or checks for women like that?

This is a good question and your Genetic Counsellor is best placed to answer this one because this will depend on your family history of cancer. In most cases, the BRCA alteration in the family will be the explanation for the cancers that have occurred and if negative, population screening is usually sufficient, as long as there is no history of cancer on the other side of your family. In the case where there is cancer family history on the other side, this risk can be assessed at a cancer genetics clinic and any additional screening can be formally advised.

Do you know if many people go for PGD IVF or try having a family naturally?

In terms of individuals who have a BRCA1/2 gene alteration, we understand that most couples try to have a family naturally but some do choose to pursue the PGD route. This will depend on the couple and is a personal choice. This decision is usually influenced by experiences with cancer in the family (or personally), their values and beliefs and will depend on financial circumstances. PGD can cost up to 14,000 euro per cycle, and can be a lengthy and emotional journey. The Beacon and Waterstone Clinic offer this service and can meet couples to discuss the process in more detail.

if you are given a diagnosis of breast cancer at what stage would you be offered genetic testing? So if you had a weak family history would this be offered prior mastectomy, chemo, radiotherapy or after treatment?

This depends on many factors. Your Oncologist may ask you about any family history of cancer and then refer you to a cancer genetics clinic.

You may be referred and not meet the testing guidelines therefore may not be eligible for genetic testing via HSE services. This would be due to the low chance of there being a BRCA gene alteration responsible for the breast cancer diagnosis. This is likely if you do not have a strong family history of cancer.

If offered an appointment to discuss genetic testing, current wait times can be long as mentioned in the genetic counselling talks. If genetic testing is indicated and deemed urgent (example having a triple negative breast cancer or being diagnosed under age 40) then we would usually try to facilitate urgent testing prior to surgery specifically. This is because if a BRCA gene alteration was identified, some women would choose to have a prophylactic double mastectomy rather than a lumpectomy or partial mastectomy. In many cases, genetic testing is offered post treatment but hopefully this will change in the future.

More information for referrers is available at: https://www.hermitageclinic.ie/downloads/HMC%20Cancer%20Genetics.pdf

When diagnosed with a gene mutation does health insurances improve/increased cost/ waiting time. This is re family and young adult children?

I think the answer to question one can partially answer this. Health insurance companies do not have to be informed about results from genetic testing and they should not ask policy holders. If they do, you are legally not required to answer. Regarding waiting times, having health insurance may decrease wait list times for predictive genetic testing, cancer screening and preventative surgeries.

Can a genetic test be wrong/ false positive? Any human error risk in the result?

Predictive genetic testing for BRCA gene alterations is very sensitive and specific, especially when a family member who has tested positive is having testing via the same service/laboratory. This is because the lab will use a control sample from a family member to ensure the false positive or false negative rate is a low as possible. Predictive genetic test results are very reliable.

Is there a specific age limit for predictive gene test, that is, the referral wont be processed until the family member is a specific age, for example, the person must be aged 25

Genetic testing for BRCA gene alterations is offered to individuals from age 18. At this age, the individuals is an adult that can consent for testing and have the maturity to make the decision as to whether to find out this cancer risk information. Some people choose to not know which is ok. BRCA alterations have an impact on adult cancer risk and not on childhood cancer risk, therefore there is no clinical indication to test in childhood.

Does hormonal contraception have an impact on any additional cancer risk for BRCA patients?

The National Institute for Health and Care Excellence (NICE) has advice about taking the oral contraceptive pill (OCP) for individuals with a BRCA gene alteration and for women with a family history of breast cancer, see below:

  • Advice to women up to age 35 years with a family history of breast cancer should be in keeping with general health advice on the use of the oral contraceptive pill.
  • Women aged over 35 years with a family history of breast cancer should be informed of an increased risk of breast cancer associated with taking the oral contraceptive pill, given that their absolute risk increases with age.
  • For women with BRCA1 mutations, the conflicting effects of a potential increased risk of breast cancer under the age of 40 years and the lifetime protection against ovarian cancer risk from taking the oral contraceptive pill should be discussed.
  • Women should not be prescribed the oral contraceptive pill purely for prevention of cancer, although in some situations reduction in ovarian cancer risk may outweigh any increase in risk of breast cancer.
  • If a woman has a BRCA1 mutation and is considering a risk-reducing oophorectomy before the age of 40 years, the oral contraceptive pill should not be prescribed purely for the reduction in ovarian cancer risk.

 

There is a study funded by Cancer Research UK called Changes, detected in BRCA 1 breast cells before they turn cancerous. How far advanced is this study and is this something that would be look at for BRCA 2

This is a recent study conducted by a team at Cambridge but further research is needed in order to rely on their findings. Larger clinical trials will be essential before this could be used in clinical practice but their research does look very interesting and potentially useful indeed. This is a good example of how this area is always changing and that screening for cancer is always improving. I am sure it is the hope that BRCA2 gene alteration carries would eventually be included in their clinical trials in future studies. What that space!

I had a salpingo-oophorectomy two years ago and apart from a 6 week post-op check up, I haven’t seen anyone about my remaining risk of ovarian cancer/menopause etc. Is it important that I should go to see a gynaecologist on a regular basis?

This will depend on your age. When women have risk reducing ovarian surgery, we would recommend the consideration of taking hormonal replacement therapy (HRT) up to about age 52 (age where natural menopause usually begins) to offset menopause symptoms and to reduce the risk of other health conditions. Hormones are important for bone health, cardiac health and mental well-being therefore HRT should be considered to maintain overall health. If a woman has their ovaries removed over age 50 then HRT may not be advised. In terms of any remaining ovarian cancer risk post op, this would be a very low risk and we would not advice any further regular follow up as long as you were feeling well.

I was lucky to get diagnosed with BRAC1 alteration at quite a young age however I have found a lot of information and support is directed at women over 30. I feel like I should be “project planning” for the future so that I can be prepared but also cant find information of similar experiences (<25 years old) – who should I talk to

I think the reason for this is that the risks associated with BRCA gene alterations are mostly relevant to woman over age 30. The risks of cancer below this age is very small but this will depend on your family history as well. I think the Marie Keating BRCA support group may be a helpful place for you to start as I expect there are other young woman in your situation that you could be put in touch with, if you think that would be helpful.

do the various variants of BRCA carry different risks and how do you set up an appointment to discuss this with the appropriate services?

This is a good question and I think this is something we are still learning about. Having a BRCA gene alteration usually means that it is causing the gene to not work therefore, the gene is not protecting against cancer as it should. This is why BRCA alterations cause increased cancer risks. Some alterations do work differently than others but the overall risk difference is difficult to estimate. We do know that having a strong family history of BRCA related cancers will impact cancer risk. We think some families must have mild genetic protective factors that may influence the risks associated with BRCA gene alterations. You could request a follow up appointment with the service you had testing with which may help you understand your personal risk of cancer better. We now have access to a tool called CanRisk (canrisk.org) which can incorporate genetic test results, family history and personal medical history to estimate a more specific 5 year, 10 year and lifetime risk of breast and ovarian cancer.

 

Answered by Carol Spillane:

How can someone go about receiving genetic counselling?

If you meet the criteria, your GP can refer you to the cancer genetic services at St James’s Hospital or Crumlin’s Children’s Hospital.

 

Do you have any tips for breast self checks for someone who has a lot of cysts (so a bit lumpy and bumpy anyway).

We recommend that you perform a breast self-exam on the same day each month. You will learn to interpret how the breast tissue should feel on that day and will recognise when something feels different and requires review. It may helpful to keep a diary of where your ‘normal’ lumps are. It is important to use the pads of your fingers, rather than the tips when performing breast self-exams.

How would I go about getting an appointment to discuss mastectomy options?

Your GP can refer you to one of the breast centres to discuss your risk reducing options.

 

Is the nurse led service available in the Mater?

St. James’s hospital is the only centre that currently has a nurse-led service.

 

What is the current waiting time for an appt at family risk assessment/BRCA clinic in St. James?

There is currently a 3 month wait time for new patients.

 

How effective is screening versus risk reducing surgery?

The decision regarding whether to have risk-reducing surgery versus surveillance is specific to each woman. It is important to note that neither options remove a woman’s risk of developing a cancer in its entirety.

 Risk reducing oophorectomy is recommended at 40 or once you have completed your family, as the screening options (transvaginal ultrasound and CA 125) available are less sensitive. Bilateral salpingo-oopherectomy can reduce a woman’s risk of developing ovarian and peritoneal cancers by up the 80%. The survival benefit of this type of surgery is well documented in the literature.

Risk reducing bilateral mastectomy can reduce a woman’s risk of developing breast cancer by up to 95%. However, numerous research papers have demonstrated the sensitivity of combined breast MRI and mammography allowing for early diagnosis of breast cancer. Therefore, breast surveillance provides a good option for women who do not wish to have risk reducing mastectomy.

 

If you get an oophorectomy after 40 years, does it still reduce your cancer risk? Why is it better to have it before 40?

 It is recommended to have an oophorectomy before 40, as your screening options are limited. The majority of research papers suggest that having an oophorectomy in your early 40’s can reduce your breast cancer risk by up to 50%. Research is on-going in this area.

 

I’m just wondering how to link into the family clinic?

Your GP can refer you to a family history clinic by writing directly to the breast centre providing this service.

 

At what age can your children get tested for BRCA Gene?

Your children must be 18 in order to test for a gene alteration. However, it is important to understand that the international guidelines do not recommend commencing surveillance until 30 years of age.

 

Questions Answered by Pauline Robinson

How can we find out more specific information about support for decision making outside of Dublin?

The NCCP is working to develop services to meet the ongoing healthcare needs of those with Hereditary Breast and Ovarian Cancer Syndrome/BRCA mutations.

The proposed model is nurse-led, ensuring continuity of care and integration across a range of healthcare needs – including surveillance, surgery, chemoprevention and psychological supports.    Implementation is commencing this year and will be incremental, with the intention is of developing these nurse-led services in regional cancer centres.

There is also investment underway this year in  Nurse Specialist roles with a role in family risk assessment in breast services.

 

Is there any plans in the future to shorten waiting times? They are a lot shorter in other countries?

Investment has been made in the specialist cancer genetics services in recent years but this has been overtaken by rapid growth in the need for assessment and testing. The HSE has recognised the need for development of specialist genetics services (including cancer genetics) and is in the process of recruiting a national clinical lead for genetics & genomics to spearhead this.

The Covid-19 pandemic also impacted on specialist genetics services, mainly through redeployment of staff to the acute Covid response at critical time points.   Virtual assessment and remote testing methods have been employed to ensure a continued service.  Scheduled surveillance and prophylactic surgery were also impacted on by the pandemic. As the genetics service develops and becomes more structured and  resilient and separated from the demands of symptomatic services.

 

Is there a cure for BRCA gene under development?

There is no cure for a BRCA gene mutation

 

Is there a breast implant registry in Ireland?

There is no central registry for breast implants in Ireland. Each hospital maintains a record of implants used in surgery.

 

 

2020 Webinar:

General FAQ’s:

Q1: What is the difference between BRCA1 and BRCA2?

BRCA1 and BRCA2 are tumour suppressor genes. The two genes work together in a pathway that works to protect our DNA from damage. Faults (or mutations) in either gene are known to cause an increased risk of developing certain cancers. In women, they predominantly cause and increased risk of breast and ovarian cancer. In men, faults in these genes can cause an increased risk of prostate and breast cancer.

The slight difference between the two genes is found in the cancer risks associated with each gene. It can be difficult to get accurate information regarding the risk associated with these genes as the risks vary in different studies and also vary over time. As Dr McVeigh mentioned, there are many variables that add together to define an individual’s cancer risks. We are getting better at giving more individualised risk assessments based on both genetic and environmental/lifestyle factors.

BRCA1 is associated with a slightly higher lifetime risk of developing breast cancer than BRCA2. However, this difference in risk is negligible. Women with a BRCA1 mutation are thought to have a 72% risk of developing breast cancer by the age of 80. Women with a BRCA2 mutation are thought to have a 69% risk of developing breast cancer by the age of 80.

Women with a BRCA1 mutation are thought to have a higher risk of developing ovarian cancer compared to women with a BRCA2 mutation. Women with a BRCA1 mutation are thought to have a 44% risk of developing ovarian cancer by the age of 80. Women with a BRCA2 mutation are thought to have a 17% risk of developing ovarian cancer by the age of 80. This risk of developing ovarian cancer starts to increase from a woman’s later 30s. It appears that the risk of ovarian cancer for women with BRAC2 starts to rise for a woman’s mid-40s. Therefore, women may be given slightly different advice about when to consider risk-reducing Bilateral Salphingo-oophorectomy (rrBSO) depending on their mutation and also based on their family history.

These figures are based on a prospective study which followed almost 10,000 women with either a BRCA1 or BRCA2 mutation: Kuchenbaecker, Karoline B., et al. “Risks of breast, ovarian, and contralateral breast cancer for BRCA1 and BRCA2 mutation carriers.” Jama 317.23 (2017): 2402-2416.

Men with a BRCA2 mutation are thought to have a 25% lifetime risk of developing prostate cancer (compared with a ~12% risk in the general population). They may also be at risk of developing prostate cancer at earlier ages and there is some evidence that their prostate tumours may be more aggressive. There is no clear evidence that men with a BRCA1 mutation are at an increased risk of prostate cancer.

Men with a BRCA2 mutation have a slightly higher risk of developing male breast cancer compared with men with a BRCA1 mutation. The life time risk of developing male breast cancer is still thought to be low.

There is some evidence that the risk of developing pancreatic cancer is slightly increased in families with a BRAC2 mutations. Please see Dr McVeigh’s answer to Q.10 regarding pancreatic cancer risk.

Q2: Why is the risk higher with BRCA1?

Data collected over time following families with BRCA mutations show a slightly higher incidence of breast cancer and a higher incidence of ovarian cancer in women with a BRCA1 mutation when compared to women with a BRCA2 mutation. Studies also show a higher incidence of prostate cancer in men with a BRAC2 mutation compared to men with a BRCA1 mutation. Please see the discussion above. It is not clear what causes the differences in these risks.

Q3: At what age should I have children tested for the BRCA?

As BRCA gene alterations are not usually associated with cancer risk in childhood or teenage years, genetic testing is not usually undertaken until individuals are able to give informed consent as adults.

Q4: Is skin cancer related to the BRCA gene?

Melanoma has also been noted to occur with increased frequency in individuals with BRCA gene alterations (BRCA2 more so than BRCA1), but the absolute risk is quite low, and modified by other factors such as skin type (fair or sallow) and environmental exposure (sunlight).

To minimise the risk of melanoma, we recommend avoiding sunburn and wearing high factor sun cream. Individuals that avoid the sun run the risk of vitamin D deficiency, as sunlight is our main source of this vitamin. There are dietary sources of vitamin D, including oily fish and egg yolks, and supplementation if required.

Q5: How do I get referred for genetic testing and how long will I have to wait for my results?

Getting referred

If you wish to access genetic testing through the public service, you can request a referral from your GP, or for patients undergoing cancer care from your Oncologist/Surgeon involved in your care. Referrals can be sent to the Cancer Genetics Service in St James’s Hospital or The Department of Clinical Genetics in Children’s Health Ireland at Crumlin.

If a gene alteration is already known in your family, it can be helpful for your doctor to include the details of family members who have already undergone testing in the referral letter, or the family reference number (pedigree number) if known.

For individuals with a personal history of cancer who want to know if they are eligible for genetic testing, it can be helpful to include a completed family history form with your referral letter. Forms can be obtained from the websites of the service you are being referred to.

Timing of results

  • For a predictive test (testing for a gene alteration already known in your family):

Once you have attended your appointment and had a blood sample taken, the results take approximately 3-4 months.

  • For a diagnostic test (if you have a personal history of cancer and are undergoing genetic testing to try find if your cancer is due to a gene alteration):

Once you have attended your appointment and had a blood sample taken, the results take up to 6 months. If results are required on an urgent basis for planning your cancer treatment, your referrer should include this information in the referral letter.

Timelines can vary and you can seek individualised information from your service when you attend for your testing appointment.

 

Q6: I heard other countries use the Roma Index for CA125 for screening. Would Ireland do the same?

 

Q7: What age can a woman be referred publicly in Ireland for genetic testing for mutations of the BRCA gene?

The cancer risks associated with BRCA gene mutations are adult-onset. Therefore, adults can request a referral from their GP if they wish to undergo genetic counselling and decide when is the right time for them to have testing.

Q8: 60% in Beaumont have had prophylactic surgery. How many of these had cancer? And how many have surgery to reduce risk but didn’t have cancer?

 

Q9: Is use of prophylactic antibiotics advocated in TRSU biopsy to reduce infection risk? 

 

Q10: Is there anything we should be doing in line with pancreatic cancer? Assume you can’t screen and just need an awareness of some symptoms.

Unfortunately, there is no proven screening for Pancreatic Cancer. Research is on-going to determine if and what type of screening is effective in families at high risk of Pancreatic cancer, as part of the EUROPAC study  This study will include patients with BRCA alterations over the age of 40 if they have two or more affected close relatives. At the present time, we do not recommend routine screening for Pancreatic Cancer in families with BRCA gene alterations outside of a research study.  We recommend people avoid smoking, as this can increase the risk of pancreatic cancer

Q11: Can we have copies of the slides for future reference?

Our full BRCA 2020 Webinar is available to view here.

 

breastBRCA and breast cancer:

Q12: I have BRCA1 and had breast cancer. My doctor has said that since I have had a complete hysterectomy, my risk of future cancer is reduced by 50%, but Terri mentioned that this is only relevant for BRCA2. What is the research on this and is there any papers I can read?

I can’t speak about this lady’s personal risk as she hasn’t provided any information about her previous cancer or age.

I presume this question relates to the impact of oophorectomy (ovarian removal) rather than hysterectomy (womb removal).

For BRCA carriers that have had their ovaries removed (oophorectomy), the risk of ovarian cancer is reduced by 96%. There have been rare instances where ovaries have been removed and ovarian-like cancer has subsequently developed in the cells lining the abdomen (called the peritoneum) since these are from the same origin as those cells covering the surface of the ovary. The risk of this occurring is not known precisely, but is thought to be quite low (about 2% – 3%).

For a long time, it was believed that risk-reducing ovarian surgery reduced the risk of breast cancer in carriers of BRCA1/BRCA2 gene alterations if undertaken prior to the natural menopause – recent data suggests this effect is limited to BRCA2 gene carriers only. One recent paper is Mavaddat N, Antoniou AC, Mooij TM, et al. Risk-reducing salpingo-oophorectomy, natural menopause, and breast cancer risk: an international prospective cohort of BRCA1 and BRCA2 mutation carriers, but please be advised that this is meant for a medical reader.

Q13: Is it recommended to have risk-reducing breast surgery for someone who has ovarian cancer (BRCA1 in my late 60’s)

Q14: I have just recovered from Triple Negative Breast Cancer at the age of 37. I have had a double mastectomy. As I am BRCA2, does this increase my recurrence rate? 

Q15: Do you recommend keeping or removing nipples?

 

BRCA and ovarian cancer:

Q16: I am 57, BRCA1, had TNBC and also had preventative oophorectomy surgery which showed sections from the fallopian tubes with P53 staining and thankfully caught in time. My question is are BRCA1 still at risk of other types of cancer after this surgery, eg. Uterine cancer, and would a full hysterectomy be recommended?

There have been rare instances where ovaries have been removed and ovarian-like cancer has subsequently developed in the cells lining the abdomen (called the peritoneum) since these are from the same origin as those cells covering the surface of the ovary. The risk of this occurring is not known precisely, but is thought to be quite low (about 2% – 3%).

The risk of cancer of the womb in BRCA carriers is thought to be equivalent to the risk of the general population, and hysterectomy is not recommended based on our current guidelines.

Q17: It says there is an increased risk of heart disease, dementia and osteoporosis after ovaries being removed. What is the level/rate of this risk?

Osteoporosis is a disease characterized by low bone mineral density (BMD ) and, worldwide, is responsible for more than nine million fractures each year and associated with increased mortality. The rate of bone loss among untreated post-menopausal women causes a doubling in the risk of fracture every 10 years, on average. In addition, age-related factors other than bone loss also contribute, causing fracture risk to double approximately every 5 years overall. Thus, among women who experience surgically-induced menopause, post-oophorectomy, the risk is significantly increased for osteoporosis, fracture, as well as for subsequent morbidity and mortality.

Oophorectomy increases the risk of osteoporosis and cardiovascular disease. Women who are more than 10 years post menopause and who have had their ovaries removed lose bone mineral density (BMD) at twice the rate of those who have kept their ovaries and show greater progression in the thickening of the carotid artery.

Q18: Does your family history indicate your increased risk of one of the different cancers? Ie. if only breast cancer is in your family and you are a known BRCA2 carrier, does that indicate that breast cancer is the predominant risk in your family? And that your ovarian cancer risk may be less than that reported in general with BRCA2?

We are gathering more information about how the differences in family history, lifestyle factors and hormonal factors can be added to an individual’s genetic test result in order to make a more individualised cancer risk assessment. Although family history can influence risk, women with a BRCA1 or BRCA2 mutation are at a significantly higher risk of developing ovarian cancer, even if there are no known cases of ovarian cancer in the family. In the same way, a woman with a BRCA1 or BRCA2 mutation are at a significantly higher risk of developing breast cancer, even if there are no known cases of breast cancer in the family.

Q19: Does removing the fallopian tubes instead of the ovaries work as a risk-reducing surgery option for women testing positive for mutations of the BRCA gene?

At present, the only proven way for women at high risk to manage ovarian risk is to consider preventative surgery (removal of the ovaries and fallopian tubes, known as a Risk-Reducing Bilateral Salpingo-Oophorectomy, RR-BSO), usually after age 40. This obviously has significant impacts, with immediate infertility and premature menopause.

The PROTECTOR study (PReventing Ovarian cancer Through Early Excision of Tubes and Late Ovarian Removal) is underway across centres in the UK, to determine if risk-reducing surgery could be undertaken in two stages –

  1. First stage: Early Removal (prior to menopause, but after the age of 30y) of the fallopian tubes (Risk-Reducing Early Salpingectomy, RRES)
  2. Second Stage: Removal of the ovaries at a later date, closer to the menopause (Delayed Oophorectomy, DO).

By deferring oophorectomy to a later age, the risks associated with a premature menopause could be minimised. It is important to determine to what degree cancer risk is minimised by this approach compared to standard practice. At present, we only generally recommend this two stage approach within the context of a research study.

Further information about PROTECTOR is available here

Q20: I am a 34 year old BRCA1 carrier and had a bilateral prophylactic mastectomy when I was 29. I am family complete and would like to know what age is recommended for prophylactic oophorectomy?

Women who undergo RR-BSO before their natural menopause are at risk of side effects related to premature menopause. Menopausal symptoms can vary greatly from one individual to another. Some women may have no menopausal symptoms after surgery; others may have some, such as hot flushes, night sweats, tiredness, loss of libido, vaginal dryness and mood changes. Women who experience premature menopause also have increased risks related to bone, heart or brain health. Because of these risks, we do not recommend RR-BSO before the age of 35, and usually closer to 40 years of age.

Women who have a Risk-reducing Bilateral Salpingo-Oophorectomy (RR-BSO) before 50 are usually offered Hormone Replacement Therapy to prevent significant menopausal symptoms and to protect their general well-being (including heart and bone health). We recommend that, after RR-BSO, women (who have not had Estrogen-Receptor-Positive breast cancer) have HRT up until age 50 to 51, as this is the usual age at which menopause would have otherwise occurred naturally. Studies show that women who have had RR-BSO before age 50 actually have less breast risk (despite taking HRT) than women who still have ovaries.

 

 

HRT and menopause:

Q21: What would the recommended HRT be post prophylactic total hysterectomy?

Depending on risk factors (smoking/ obesity/ no exercise), I would recommend Fematab 2mg for those slim, non -smoking women who exercise and have no history of clots. It’s the cheapest option at €10/month and compliance is good. Oestrogen ONLY for women post-hysterectomy.

For others who prefer patch or gel- the gel is transdermal meaning no risk of clots and applied daily so again compliance should be good (Divigel /Oestrogel / Oestrodose)

Patches are also transdermal but the shortage is a problem and sometimes compliance as they have to be changed every 72 hours (Estradot 50mcg/ Evorel 50mcg)

Testosterone will also be needed for those women post total hysterectomy- either sachet or gel pump (Testogel / Androfeme)

Q22: There seems to be a serious shortage of HRT patches at the moment. Why is this so and is it likely to be rectified soon?

The shortage of patches is a Pharma issue where companies are merging and rebranding- out of our control unfortunately so we will find an alternate treatment while waiting on them

Q23: I have the BRCA1 gene and have had the oophorectomy and mastectomy and reconstruction in the last 14 months. I am on HRT. I know there are mixed opinions on HRT – I had the ovaries and tubes removed first and that took a few months to recover from before I could think about the overwhelming option of a mastectomy due to menopause. Would welcome thoughts on this and whether this could be dealt with differently and if there was more material available to patients at the consultation phase and referred on to relevant specialists that can help.

Women who have a Risk-reducing Bilateral Salpingo-Oophorectomy (RR-BSO) before 50 are usually offered Hormone Replacement Therapy to prevent significant menopausal symptoms and to protect their general well-being (including heart and bone health). We recommend that, after RR-BSO, women (who have not had Estrogen-Receptor-Positive breast cancer) have HRT up until age 50 to 51, as this is the usual age at which menopause would have otherwise occurred naturally.

The decision about whether or not to have a risk-reducing mastectomy is very personal, and the survival difference between women undergoing surgery compared to surveillance is small – and this difference gets even less with increasing age – so a lot of patients never have risk-reducing breast surgery, but we still recommend they do have HRT after risk-reducing ovarian surgery if they were pre-menopausal at the time of their operation.

Studies show that women who have had RR-BSO before age 50 actually have less breast risk (despite taking HRT) than women who still have ovaries.

Q24: There has been a lot of media in recent months about the associated risk of HRT and the development of breast cancer. Is there a safe for of HRT?

Combined HRT (Oestrogen & Progesterone) carries an increased risk by an additional 4 women > 50 years/1000 women over 5 years but the risk is the same as the oral contraceptive pill or smoking. Exercise and reduced alcohol with weight reduction reduces that risk. Oestrogen only (for women who have had a hysterectomy) reduces risk of breast cancer. The safest form is gel or patch as both transdermal and do not go through the liver

Q25:  I had chemo for breast cancer nearly four years ago and have been experiencing intermittent menstrual cycles and menopause since. I have all the menopausal symptoms mentioned by Dr Forde. I’ve had triple-negative BC but BRCA negative. Sleeping is impossible. What options are available for me? I’m 35 now.

No contra-indication to HRT so will need sequential HRT (Oestrogen & Progesterone) – 2 weeks oestrogen  / 2 weeks oestrogen & progesterone ..will then have a bleed. Need to keep to this regime up to age of 50. Products are Femostan 2/10 (oral) or combination of gels/ patches or capsules (Utrogestan)

Q26: I’m 44 and have BRCA1. I had triple-negative cancer and have had a DMX with no reconstruction and my ovaries/fallopian tubes removed. I take venlafaxine to help with the symptoms of menopause, but my libido is greatly affected. Is there anything I can take/do to improve this?

You would need combined HRT (Oestrogen & Progesterone) initially and add in Testosterone after 3 months if libido hasn’t improved

Q27: I am a BRCA carrier and have had an oophorectomy in 2017. I previously had estrogen-positive breast cancer, can Dr Forde give me any advice on what I can take during menopause that will help me with the symptoms?

As you had oestrogen positive breast cancer, you are not a candidate for HRT. If you have anxiety, your GP can prescribe Venlafaxine or Escitalopram initially.

Also Sage tablets/ Evening Primrose Oil.  DO NOT TAKE OVER THE COUNTER MENOPAUSE PRODUCTS as they contain SOYA which is a weak oestrogen

 

Questions on treatment options and support services:

Q28: Are there any hospital-based psychology services? I was referred to St. James psycho-oncology team by my breast consultant as I was struggling to come to terms with my diagnosis and they told me that they couldn’t do anything for me. What other services are out there for me?

Some cancer centres have Psych-Oncology services which may offer patients appointments around their diagnosis, or prior to planning risk reducing surgery. Your Genetic Counsellor can review what supports are available to you locally, depending on where you underwent testing.  Other organisations which may have relevant supports include ARC House and Gary Kelly Cancer Support Centres. You can also speak with your GP to clarify if you are eligible for short term support as part of the Counselling in Primary Care initiative.

Q29: I had estrogen-positive breast cancer in 2010 (aged 39). Full hysterectomy in 2011 (aged 40) to reduce my risk from other cancer. I am now 49 years of age, can I use HRT? I attended a genealogical consultant last summer and asked the same question and he was adamant in saying no. It does impact on your quality of life as a woman and I was fully aware of how much the hysterectomy affected mine physically. I am taking tamoxifen for nine years now, any advice would be helpful.

Absolute contra-indication. Use Venlafaxine or Escitalopram for anxiety.

Q30: Is it likely that they will be able to “switch off” the fault in the gene in the future and if so, when do you think this might be trialled?

 

Q31: Would welcome support group options for all after surgeries as well, it can feel a very lonely place both before surgeries and after them.

I agree it can be a very lonely, anxious and stressful time. You can never fully prepare yourself for it emotionally. Though it may feel daunting and a little defeatist, I would recommend accepting support from psychological services provided by your hospital, if any are available.  It will give you some of the tools you might need to get you through this period. One of the issues I and my fellow peer support colleagues would advocate for is better psychological supports for women and men who are BRCA alteration carriers.  Finally, reach out and talk to those who have gone through the experience. You can choose to do this anonymously if you want to. Don’t forget the BRCA peer supporters are here to lend a listening ear for exactly this reason.

Q32: I have just completed treatment (bilateral mastectomies, chemotherapy and radiotherapy) for TNBC and am BRCA1. Are there any drugs or other treatments I could use to reduce recurrence risk?

 

Q33: Is it possible to self-refer to the family genetic clinic in Beaumont? I had breast cancer – chemotherapy, radiotherapy, reconstruction and oophorectomy in 2011 and am BRCA1 but have had no follow up at all from the family genetics point of view. Just the option to contact my breast surgeon on an ad hoc basis if I have any concerns.

 

Q34: I am 47 with BRCA2 and breast cancer in my family. It was recommended to get my ovaries removed. I’m in the middle of a weight loss programme and have one year left as I am very obese. I am afraid I will gain weight due to menopause and am considering waiting for the operation for one year. How do I weigh the benefit and the risks?

If you have finished your family would you consider hysterectomy also as your treatment would be Oestrogen only which reduces risk of breast cancer? Use either gel or patch. Yes wait the year if you can.

Q35: I was diagnosed with BRCA2 diagnosis last November. After seeing the genetic counsellor, gynae and breast specialist, I have received three different options on what I should do. Especially about the timing of when to remove my ovaries and whether I should receive HRT treatment or not. I have my operation scheduled soon, but the insecurity of how my menopause will be treated is putting me off. What do you advise on how I should move forward?

I assume this lady hasn’t had cancer as she hasn’t mentioned it.

Unfortunately, there is no proven form of ovarian cancer screening. A large study called UKFOCSS looked at whether ultrasound and CA125 tumour marker measurement would detect ovarian cancer sufficiently early and reliably for these tests to be introduced as routine screening. This and other studies suggested that screening would not necessarily pick up ovarian cancer early enough for treatment to be effective in curing the cancer. Harm can be done when screening gives false-positive results, causing unnecessary anxiety and investigations. At present, the only proven way for women at high risk to manage ovarian risk is to consider preventative surgery (removal of the ovaries and fallopian tubes, known as a Risk-Reducing Bilateral Salpingo-Oophorectomy, RR-BSO), usually after age 40.

Risk-Reducing Bilateral Salpingo-Oophorectomy (RR-BSO) involves removal of both ovaries and fallopian tubes to minimize cancer risk. This may be done by keyhole surgery and does not usually involve removal of the womb (hysterectomy). There have been rare instances where ovaries have been removed and ovarian-like cancer has subsequently developed in the cells lining the abdomen (called the peritoneum) since these are from the same origin as those cells covering the surface of the ovary. The risk of this occurring is not known precisely but is thought to be quite low (about 2% – 3%).

Women who undergo RR-BSO before their natural menopause is at risk of side effects related to premature menopause. Menopausal symptoms can vary greatly from one individual to another. Some women may have no menopausal symptoms after surgery; others may have some, such as hot flushes, night sweats, tiredness, loss of libido, vaginal dryness and mood changes. Women who experience premature menopause also have increased risks related to bone, heart or brain health. Because of these risks, we do not recommend RR-BSO before the age of 35, and usually closer to 40 years of age.

Women who have a Risk-reducing Bilateral Salpingo-Oophorectomy (RR-BSO) before 50 are usually offered Hormone Replacement Therapy to prevent significant menopausal symptoms and to protect their general well-being (including heart and bone health). We recommend that, after RR-BSO, women (who have not had Estrogen-Receptor-Positive breast cancer) have HRT up until age 50 to 51, as this is the usual age at which menopause would have otherwise occurred naturally. Studies show that women who have had RR-BSO before age 50 actually have less breast risk (despite taking HRT) than women who still have ovaries.

 

BRCA in Men:

Q36: Following prostate robotic surgery, what is the ideal follow up for men with regard to ongoing screening? If a bone scan has not been recommended following Grade 3 cancer, should the patient request this from their GP or consultant? Can there be circumstances where cancer has penetrated beyond the prostate and is treated before surgery? And if so, is this considered a further indicator for a bone scan?

After Robotic Prostatectomy, I would recommend a PSA blood test every 6 months and consultation with a Urologist. PSA   is an excellent marker of any recurrence of disease (which by the way can be treated very successfully with additional radiotherapy or a number of different drugs if required after discussion with your Urologist)

I would not do a bone scan unless the PSA increased to above 20ng/ml that is the current recommendation as the chances of a Bone Scan being positive below this level are extremely small.

Q37: What age would you recommend a PSA testing when there is a history of prostate cancer in the family (brother and or father, and breast cancer also)

With this history I would recommend a digital rectal examination (DRE) and a PSA at age 40. Without any family history it could be at 50, but if concerned a consultation with a GP,and a  DRE and PSA can be arranged. No PSA without a DRE below 40

Q38: As a BRCA2 carrier, my risk of ovarian cancer is less than that of my 65 year old father with prostate cancer. Why is it that males are discharged to their GP and then have to go through the private system, and yet I am offered public appointments. Should BRCA2 males not be continued to be seen in the family risk clinic at a certain age? He currently has a high PSA and is being referred privately for an MRI etc. Surely this isn’t right?

All men in Ireland between 40 and 70 can be referred via their GP to a Rapid Access Prostate Cancer service in 8 designated HSE centres throughout the country run in conjunction with NCCP whether they are BRCA2 negative or positive. The referral is based upon their age-related PSA value and Digital Rectal Exam and they are triaged according to that value.

If you are unfortunate to have a BRCA 2 positive chromosomal alteration and have a normal PSA and Digital Rectal Examination for your age, you are not at an increased risk of prostate cancer as far as we can tell at this point in time. As extra reassurance, some people request a private consultation and an MRI however in keeping with the result of the IMPACT study if your PSA and Digital Rectal Examination are normal for your age then you should not necessarily need an MRI scan.

This is why an MRI is not ordered on the basis of BRCA 2 alone, it must be arranged in conjunction with a PSA and a DRE. However, a private consultation is between a patient and the Urologist whom they choose to attend and as stated may be arranged for added reassurance. If his PSA is elevated for his age an MRI may be beneficial prior to a biopsy but if he had an elevated PSA he could also have been seen in a Rapid Access Prostate Clinic in HSE via his GP unless he requested private consultation.

Q39: Just to highlight the need for psychological support pre-op and in post op for men undergoing decisions following diagnosis?

Thank you for highlighting this issue, through the National Rapid Access Prostate  Clinics psychological support is offered via NCCP funded specialist cancer nurses, Marie Keating also offer a range of psychological supports to men with prostate cancer with literature, telephone support and on their website which is extremely useful and valuable. Locally some regions are better served than others with initiative’s such as Cancer Care West etc. that allow group meetings with survivors and those patients currently undergoing treatment in supervised meetings. However ongoing revenue and commitment is required to keep these services running.

 

 

We would like to say a massive thank you to specialists Dr. Reem Salman, Breast Surgeon, Dr. Terri McVeigh, Mr. Killian Walsh, Consultant Urologist, Dr. Deirdre Forde, Peer to Peer supporter Abi Jackson and genetic counsellors Eoin Hanney and Claire Giffney for not only presenting our first ever BRCA webinar, but for their help in answering the above questions.