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+90 533 885 42 22

Pregnancy with genetic mutations

Being diagnosed with genetic mutations in BCRA1 and BCRA2 can make your pregnancy planning harder. How to overcome it and how IVF can help you get pregnant?

BCRA1 and BCRA2The BCRA1 and BRCA2 genetic mutations, also known as “Angelina Jolie gene” are within the best known, well-examined genetic mutations that show a woman’s inclination to cancer. 

BRCA1 and BRCA2 mutations are associated with female infertility very often, and that’s because studies estimated 40–85% lifetime risk of developing breast cancer and 16–64% risk of ovarian cancer. In addition to having an increased risk of contracting ovarian and breast cancer, BRCA has been linked to a 4-8% increase in risk for contracting pancreatic cancer.

These genetic mutations have been linked also with increasing the cancer risks in both sexes, since a parent – carrier of these mutations, can easily transfer it to its offspring. 

The above-mentioned facts have sufficiently attracted the attention of fertility experts as well. In the last couple of decades, a lot of studies have been carried out to examine the BCRA genetic mutations on female fertility. Furthermore, R&D centers have put emphasis on developing fertility treatments that can prevent genetic mutation inheritance to the child and prevent cancer. 

Thus, we decided to dedicate a blog to this topic and get you closer to it. Our aim is to increase the awareness of preventing female fertility when exposed to higher cancer risks.

So, stay with us and continue reading!

Let’s give a brief explanation about BCRA1 and BCRA2

Dear ladies, we can all inherit from our parents’ genetic mutations in our DNA that expose us to higher risks of breast cancer. The mutations in the BRCA-1 and BRCA-2 genes are the most common reason for inherited breast cancer. Inheriting a genetic mutation in BCRA1 and BCRA2 from any of the parents (your mother or your father) is getting you exposed to a higher risk of getting breast and ovarian cancer. The risk is further increased if you have several family members who have had breast or ovarian cancer.

And planning a pregnancy with this kind of burden is getting even harder. The first step towards planning a pregnancy with suspicion of inherited genetic mutations in BCRA1 or BCRA2 is visiting a genetic counselor and having evaluated your genetic predisposition for cancer.

That leads to the following question, that we would like to answer you. 

How do I know if I need to see a genetic counselor? 

There is no other way to tell if you have or not these genetic mutations, other than being tested. 

You don’t have to be in the groups most exposed to cancer risks to see a genetic counselor. But if you do, then you should definitely do it in your early twenties, or at least when you start to think about building a family. 

The test for BCRA1 or BCRA2 is a blood check that includes DNA analysis. Through this test, it is very possible to identify alterations (mutations) in the BCRA1 and BCR2 genes. Getting tested for these genetic mutations is crucially important for everyone, but there are certain cases in which getting tested for BCRA1 and 2 is highly recommended. 

So, you should definitely think about getting tested, if you can recognize yourself within the following list: 

  • You have a family member diagnosed with BRCA-1 or BRCA-2 mutation
  • You have a family history of breast cancer developed before age 45
  • You have a family history of breast cancer and Ashkenazi (Eastern European) Jewish ancestors 
  • You have a history of breast cancer developed at a young age in two or more blood relatives, such as your parents, siblings or children
  • A mother with ovarian cancer

In order to get tested, you have to visit a genetic counselor. He/she would examine your family’s medical history, as well as yours, and evaluate your overall exposure to cancer risks.

What does a positive test mean when speaking about BCRA1 and BCRA2? 

Here we would like to briefly explain what it means to get a positive test from the genetic screening test.  A positive test result confirms that you have a mutation in one of the cancer genes, BRCA1 or BRCA2. That implies that you are exposed to a much higher risk of developing breast cancer or ovarian cancer.
But, a silver lining is that a positive result doesn’t necessarily mean that you will develop cancer for sure. 

This test could be a great indicator that you have to act very responsibly and respect the follow up that your doctor will require. Usually, part of the follow up for these tests is increasing the frequency of cancer screenings and maybe medical therapy to decrease the risk. 

The follow-up actions would depend on several factors, such as:

  • your age
  • medical history 
  • prior treatments 
  • past surgeries 
  • personal preferences.

How to cope with building a family after positive results from BCRA1 and BCRA2 genetic mutation screening?

Planning a family becomes quite challenging at this point. As many other aspects of your life. Even though this test doesn’t mean that you already have cancer, or you will certainly start developing, many people reported struggles such as: 

  • Impaired mental health: feeling anxious, having anger issues, or even developing depression
  • Strained family relationships over learning of a familial genetic mutation
  • Difficult decisions about preventive measures that have long-term consequences
  • Feelings of inevitability that the genetic mutations are heritable to the offspring

These couple of conditions can make the planning of pregnancy quite tough, and that’s why you should do your best to develop healthy coping mechanisms, so you can preserve your chances of staying pregnant.

There are two major concerns that everyone diagnosed with genetic mutations in genes BCRA1 and BCRA2 can eventually have. The first one is the transfer to their children. The second one is if they would be able to have kids at all. 

And, as a fertility team which has met many different infertility struggles, we can, unfortunately, say that those concerns are inevitable. But we can also suggest a couple of advice on how to proceed if you hold positive test results.

First, don’t despair too early, and meditate! 

Becoming overly stressed, demotivated and losing your hope of being a parent is definitely not the way you should take. If you think that living with this fact is getting too hard for you, then seeing a therapist would strongly support you in building your healthy coping mechanisms. 

Also, considering meditative and breathing techniques, that your therapist can also help you to learn and implement, would help your body to expel the negative thoughts. 

Clear and focused mind, and relaxed body would help you to think of how you would like to preserve your chances of becoming a parent and look for the right solution. 

Boost your immunity, and your health will follow

Acting in favor of your immune system would serve your fight with cancer and infertility very well. Instead of developing unhealthy coping mechanisms such as smoking, drinking or consuming illicit drugs, you can reach healthy nutrition and mechanisms to boost your immune system. There is no need for special diets, just including more immunity – supporting food in your daily meals. Maybe considering fertility-boosting foods can be a good approach! And maybe some sports! 

You have to keep your body fit when struggling with cancer risks, and even more with infertility due to it. 

Increase the frequency of your fertility checked and see a fertility expert

The development of breast or ovarian cancer can be also detected by your gynecologist. A simple checkup or a pap test can tell a lot about your female fertility, and the potential of cancer development. 

You can also discuss with your gynecologist your chances to get pregnant. He can suggest ways to improve or preserve your fertility. Many times, for patients exposed to higher cancer risk, consulting a fertility expert is welcomed too. 

Infertility treatments (Mostly IVF treatments) are not only dealing with necessarily infertile couples. There are solutions that can offer you the chance to preserve your fertility and the chance to be a biological parent to your child. 

So, let’s dig into them! 

IVF in Cyprus treatments suitable for those struggling with genetic mutations in BCRA1 and BCRA2 genes

There are many possible scenarios and combinations of fertility treatment strategies with IVF.  We will distinguish a couple of them here, that we consider are the most common strategies for parents that carry genetic mutated BCRA1 and BCRA2. 

Preventive solution for preserving fertility – IVF with Egg Freezing

This strategy is suitable for women who recently found out that they carry the genetic mutation. The IVF with Egg Freezing strategy allows them to store and freeze their eggs, so they can become biological mothers of their child in case they really develop cancer. 

In most of the cases, the cancer treatments (chemotherapy) causes difficulties in getting naturally pregnant. In some of the cases of ovarian cancer, the woman is getting her ovaries also removed. Which makes it absolutely impossible to become a biological mother. 

With Egg Freezing, every woman whose fertility is well preserved before developing (or in the early stages of cancer development), gets the chance to postpone her pregnancy for the times she would be more ready to become a mother. 

This way, any potential further fertility complication that comes along with these types of cancer risks might be avoided. 

Add a Preimplantation genetic screening and Preimplantation genetic diagnosis to your IVF treatment 

These two technological advancements merged the realms of genetics with fertility treatments. They allow us to be able to run diagnostics on the embryos resulting from your IVF cycle and examine their genetic structure accurately. This also gives us the chance to detect any mutation or irregularity within the embryo’s DNA.

Thus, we can prevent the transfer of any genetic mutations to your children. This is almost an inevitable addition to their IVF cycle. 

IVF with Egg Donation for patients that struggled with cancer 

This a solution available if you were already faced with cancer and chemotherapy. Cancer and its treatment can be very harmful to fertility and your chances to become a biological mother. Especially, if your cancer treatment required ovaries removal. 

Luckily, here we can offer you also an IVF treatment, but with donor’s reproductive material. We examine our egg donor’s to the smallest details and their eggs are marked with high quality. EuroCARE has achieved high successes with IVF with Egg Donation. 

Even though infertility can be a tough pill to swallow, IVF treatments can help in increasing your chances to start or spread your family.  

How can euroCARE IVF help you? 

The team of euroCARE is conscious about the complexity of living with cancer or diagnosed high risk of developing one, therefore we try to be there for you in every possible way. 

Our assistance on your path to pregnancy starts with an initial free consultation where our patient coordinators will devote themselves to the particular, individual circumstances and difficulties that you have. The aim of this consultation is to help you understand better your options for an IVF treatment tailored to your situation. The team will continue to accompany you at every step through the IVF Cyprus treatment. 

With euroCARE you will get personalized treatment and your own team, whose motive is to help you overcome any fertility problem. So, take your first step and book your first fertility consultation, now, for free!


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