Genetic mutations and the implications of carrying one can be a bit of a minefield. We’ve put together these FAQs to help but if you can’t find what you’re looking for, contact our Cancer Prevention Officer, Jo Stanford, Jo@ovarian.org.uk.
What are genetic mutations?
Read our brief guide here.
How do I know if I’m eligible for testing?
NHS England E01/P/b says genetic testing for a BRCA mutation will be offered to a person if their combined BRCA1 and BRCA2 gene mutation carrier probability is 10% or more.
Are the guideines the same across the country?
There are some differences. You can read about the specific guidelines for England and Wales, and Scotland here:
- Acting on BRCA: I'm worried about my family history (England and Wales)
- Acting on BRCA: I'm worried about my family history (Scotland)
How is the genetic test carried out?
The genetic test is usually carried out by a blood test which is then analysed by a genetics lab.
If I have no breast cancer in my family, do I still need to worry about having these genetic mutations?
BRCA mutations and Lynch Syndrome increase the lifetime risks of a number of different cancers. In some families, there may be a strong history of ovarian cancer with no history of breast cancer at all, or a combination of other cancers such as colorectal, uterine (womb) cancer and pancreatic cancer. You shouldn’t assume that if you don’t see the “typical” pattern of cancers you associate with these genes that you shouldn’t worry about your family history.
I’ve been diagnosed with ovarian cancer but no one else in my family has had cancer, is there any point getting BRCA tested?
Although only around 10-15% of ovarian cancer cases are caused by a genetic mutation, up to 50% of women diagnosed with ovarian cancer who test positive for a BRCA mutation have no family history of the disease. Based on current guidelines, all women with non-mucinous ovarian cancer, diagnosed at any age, are eligible for BRCA testing. Women with mucinous ovarian cancer and another primary cancer are also eligible. This is because a non-mucinous epithelial ovarian carcinoma diagnosis automatically puts you over the significant risk threshold. This is particularly the case with high-grade serous ovarian cancer.
If you have ovarian cancer and have found out you have a BRCA mutation, it can positively impact your treatment as there are targeted treatments and clinical trials that you can get involved with. Click here for more information. Finding out you have a genetic mutation could also give other members of your family, or your children, the option to take preventative action to reduce their own risk.
Can men have a genetic mutation such as BRCA?
Yes. In fact men are just as likely as women to have a genetic mutation such as BRCA or Lynch Syndrome.
Why does it matter if a man has a genetic mutation?
BRCA mutations increase the risk of a number of cancers such as prostate cancer and pancreatic cancer, not to mention the increased risk of breast cancer in men. Lynch syndrome increases the lifetime risk of a number of cancers, including colorectal cancer, stomach cancer, kidney cancer and pancreatic cancer. These can all affect men so whether you are male or female, if you have a genetic mutation in your family it pays to be aware. For more details about the risks associated with these mutations click here.
It’s also important to remember that a man with a genetic mutation such as BRCA has a 50/50 chance that he will pass this mutation onto his children, whether they are sons or daughters, and their risk of cancer will be increased.
Can I inherit a BRCA mutation from my dad?
Yes. BRCA mutations and Lynch Syndrome can be passed down from your father or your mother. They can be passed down to men or women. If someone has one of these mutations, there is a 50/50 chance they will pass it onto their child, whether they have a son or a daughter. This is why it’s so important to look at both sides of the family when researching family history.
Can you have a BRCA1 and a BRCA2 mutation?
Yes it is possible to inherit more than one genetic mutation, although this is very rare. Generally the risk of cancer will be quoted as the higher risk mutation for that cancer.
Can a mutation skip a generation?
Genetic mutations can’t “skip” a generation. Because not everyone with a genetic mutation gets cancer, it can be the case that in one generation, nobody gets cancer at all, but it can still have been passed down to you or your children. Similarly, if you test negative for a particular known mutation, it cannot “skip” you, and you cannot pass it down to your children.
Will having a genetic mutation affect being able to get life/ medical insurance?
The UK Government and the Association of British Insurers have a voluntary agreement in place until 2019 called the Concordat and Moratorium on Genetics and Insurance.
This agreement means that if you have had a predictive test for one of the genetic mutations that increases your chances of having breast or ovarian cancer, you do not need to disclose this to the insurers. You do not have to tell them the results of any of your family members’ predictive genetic tests.
There are financial limits to the agreement so be sure to check the moratorium in detail here. They are, however, allowed to ask about family medical history and diagnostic genetic test results (if you have signs or symptoms of a genetic condition, a diagnostic genetic test confirms or rules out whether you have the condition).
You can voluntarily tell your insurer the results of a predictive test that might counteract a higher premium based on your family medical history, for example if your family history of cancer suggested a BRCA mutation but you had had a negative BRCA test.
Remember: always answer any questions asked truthfully otherwise your insurance may be void. The agreement can be found here.
I have a strong family history of cancer/ a known mutation in my family, do I have to have a genetic test?
It is entirely your decision whether you want to have a genetic test or not. No one can make that decision for you. It is worth speaking with a genetic counsellor to discuss all your options and what impact the genetic test would have but the final decision is always yours.
Do I have to tell family and friends about my genetic mutation?
Whilst some people find it helpful to discuss their situation, it is entirely your decision whether to talk to people openly about your results. It is important to point out that by sharing the fact there is a genetic mutation in your family, you will be giving other family members the opportunity to find out whether their own risk is of concern. If they don’t know, they can’t take action. Your genetics team should provide you with written information to help you do this if you aren’t comfortable having a face-to-face conversation with family members.
If I get a negative result, does that mean I am safe from getting cancer?
Testing negative for a BRCA mutation or Lynch Syndrome can mean a number of things. If you have a known mutation in your family, and you test negative for that mutation, you will know that you haven’t inherited that mutation and the increased risk that goes along with it. However, you will still have at least the same risk of getting cancer as the general population, which for ovarian cancer is around 2% lifetime risk. It is worth knowing what symptoms to look out for.
If you have a strong family history of cancer but no mutation is found, it could mean there is a genetic mutation in your family that has yet to be found by researchers. Your genetic counsellor will discuss with you what this means for you and your family.
If I test positive for a genetic mutation such as BRCA, does this mean I will definitely get cancer?
No. A genetic mutation is not a guarantee you will get cancer, it means that the risk of you getting certain cancers in your lifetime is greater than the general population.
Finding out you have a BRCA mutation or Lynch Syndrome means you can take action early to monitor yourself and prevent getting some of the cancers linked to the mutations. For details of preventative options click here.
If I have a genetic mutation such as BRCA, will I definitely pass it onto my children?
If you have a genetic mutation such as BRCA or Lynch Syndrome, there is a 50% chance that you will pass this on to each child. Whether you have sons or daughters, this risk is the same.
Should I have my children tested for genetic mutations?
Children are not routinely tested for these mutations and the youngest a person is usually tested is 18 years old. The cancers that are linked to BRCA mutations and Lynch Syndrome are not cancers that typically develop in children. The risks start to increase from the age of around 30-35 for BRCA1 carriers, and later for BRCA2 and Lynch Syndrome. This means that there is plenty of time for your children to reach adulthood, go through the genetic counselling process and make their own decision about getting tested.
How could I have a BRCA mutation in my family if there’s no family history? Surely if there’s such a high risk of cancer this shouldn’t be possible?
Studies show that when women are diagnosed with ovarian cancer and are BRCA tested, up to 50% of those who are found to have a BRCA mutation have no family history of cancer. There are several reasons why this could be the case:
- Men! These mutations increase the risks of cancer for men, but for the cancers linked to BRCA these risks are low, in absolute terms, compared to the females’ risks. There is still a high probability that a man would reach an old age without getting one of these cancers and therefore not ever know about his genetic mutation.
- Incomplete family history: it can be very hard to find out about medical history from many years ago, and it can also be emotional to discuss with older family members who have lost loved ones. Sometimes the facts have been lost or misinterpreted along the way.
- Family members passing away from other causes: if family members have passed away at an early age from other causes, for example in an accident, they may have had a mutation but did not live to an age where they would have had a high risk of cancer. This would then look on your family tree as though they were unaffected.
- Confidentiality: Not everyone is comfortable being open about their health battles, and it isn’t uncommon to find out that a family member in years past had an illness that only very close family knew about.
- Not realising other cancers are involved: awareness that breast cancer can run in families is increasing, but many people are unaware that these genetic mutations can be linked to other cancers such as pancreatic, prostate and ovarian cancer for BRCA, and colorectal, stomach, uterine cancer (and others) in Lynch Syndrome. This means they may not mention these.
If I have my breasts removed, am I 100% safe from getting breast cancer?
Unfortunately, even if you have your breasts removed (bilateral mastectomy), you are not 100% guaranteed not to get cancer. It is impossible for surgeons to remove every cell of breast tissue, as these can extend into the armpit and up to your collar bone. However, studies have shown that a Risk Reducing Bilateral Mastectomy can reduce the risk of breast cancer in BRCA+ women by 90-95%, taking a BRCA+ woman’s risk to below that of the general population.
After this surgery, women should still check themselves regularly and visit their GP if they notice any changes.
If I have my ovaries removed, am I 100% safe from getting ovarian cancer?
Unfortunately, even if you have your ovaries removed, you are not 100% guaranteed not to get cancer, because of the small risk of cancer of the peritoneum, the lining of the abdomen. A Risk Reducing Salpingo-Oopherectomy (removal of the fallopian tubes and ovaries) reduces the risk of cancer by approximately 96%. This surgery has also been shown to reduce the risk of breast cancer, but the exact risk reduction is still uncertain.
How expensive is preventative surgery?
Preventative mastectomy with breast reconstruction (to reduce the risk of breast cancer) and the removal of your ovaries/ fallopian tubes (to reduce the risk of ovarian cancer) are both covered by the NHS for women with BRCA mutations. You should factor in costs such as time off work and travel to the hospital, but the surgeries themselves will not cost you any money. Your genetics team can tell you more about your options in this area.
If I’m BRCA+, should I have all my preventative surgeries as soon as possible?
When you get the news that you have a BRCA mutation you may feel like you want to do everything all at once to reduce your risk, but it’s important to make these decisions carefully and discuss your options with your genetic counsellor. Your options will depend on your age, family history, and your mutation - but surgery is not the only choice. There are screening programmes for breast cancer on the NHS for example, as well as chemoprevention. For more information about your options see here.