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Who do you think you are? How discovering your genetic status could impact your health

13 March 2019

Genetic puzzle

The past can hold many secrets and for some of us, researching our roots is a lifetime fascination, piecing together the stories of those who made us who we are today. In recent years, genetic testing has become increasingly popular, and with it comes a deeper understanding of just how our history can inform our future. But aside from helping you trace your heritage, analysing your DNA can help you to discover crucial information about your health. And when it comes to cancer, genetic testing can result in more than simply satisfying curiosity – it can be a lifesaver.

A fault in a gene such as BRCA1, BRCA2 or those associated with Lynch Syndrome, means a greater chance of developing certain cancers, including breast and ovarian. A blood test can identify these mutations, and being aware that you’re a carrier can make all the difference:

It gives those with a high risk the option to have more frequent screenings, meaning that the cancer could be caught earlier, leading to a greater chance of survival. They may also make informed lifestyle choices to reduce their risk or undergo preventive surgery before cancer strikes, to minimise the odds of developing it in the first place. And there are even opportunities to avoid passing on the risk to future generations, by going through embryo testing. And it’s not just a positive test result that matters - if you’re found not to carry a mutation, it could bring a huge sense of relief regarding the cancer risk for you and your children, and the possibility that extra monitoring or prophylactic surgeries may not be necessary.

But what if you’ve already been diagnosed with cancer? 

For you too, genetic testing could be useful - knowing your BRCA status can affect your treatment pathway. For ovarian cancer, a disease which is notoriously complex to treat and often diagnosed at a late stage, this is particularly important. Although only around 15% of ovarian cancers are linked to genetic mutations, some treatment options can be specifically targeted and tailored clinical trials may be available, based on if you are a mutation carrier or not. Based on current guidelines, all women with a non-mucinous ovarian cancer or those with at least a 10% probability of carrying a BRCA gene mutation should be offered a genetic test.

Although BRCA is often associated with women, men could also benefit from knowing their genetic status. Why? Because they have just as much chance of inheriting these genetic mutations as women.

A BRCA mutation increases the risk of breast cancer for men too, along with prostate cancer and pancreatic cancer. Lynch Syndrome is associated with an increased risk of colorectal cancer, stomach cancer, kidney cancer and pancreatic cancer, for men as well as women.

What’s more, men are just as likely to pass on these genetic mutations as women. So, if a man carries the mutation, there is a 50% chance that he will pass this mutation onto his children whether they are sons or daughters, and therefore their risk of cancer will be increased.

Apart from being armed with knowledge to help you be more proactive about your own health, if you test positive for a mutation, you can share this information with other family members to give them the option to get tested too, so they can undergo increased screening or take preventive action if necessary.

Ultimately though, it’s worth remembering that being a carrier for a genetic mutation such as BRCA1 or BRCA2 means you have an increased risk but it is NOT a guarantee that you will get cancer. Everyone has the right to choose whether or not to be tested and it’s not a decision to be taken lightly, as it could have implications for your future and that of your family members. If you are thought to be at risk, genetic counselling can be provided to help you take into account the impact of knowing your genetic status and consider whether it would be the right choice for you. Either way, you have no obligation to get tested and the final decision is yours. 


To find out more about genetic mutations and assess your eligibility to be tested, visit our BRCA Hub