Genes Matter

Yolanda’s story: learn so you can prevent

To honour World Cancer Day this week, we want to emphasise how important prevention is as a tool in the fight against cancer. We want to share Yolanda’s story with you, because her experience is a perfect example of preventative medicine.

“My name is Yolanda, I am 46 years old, I am married with 2 sons, who are 10 and 12. Thankfully my parents are alive and well, but there have been several instances of breast cancer in my father’s family in recent years. Two of my aunts, my father’s sisters, have had breast cancer at a young age, and two of my cousins, the daughters of one of them, have also been diagnosed with the disease.

Although one of my cousins had a negative BRCA1 and BRCA2  gene test, the two most frequent genes related to breast cancer, I didn’t feel reassured, since there were too many cases on one side of the family.

When another cousin of mine was diagnosed with breast cancer last year, I decided that I had to do something. I searched for information and talked to my gynaecologist, and he recommended that I have a consultation with a clinical geneticist, which is how I found Dr. Luis Izquierdo.

I have to admit that when I arrived at the consultation I had so many fears and doubts. I wondered if the fact that all the breast cancer in my family was on my father’s side meant I shouldn’t be so worried. I wondered, if my cousin had already tested negative for BRCA1 and BRCA2 , should other family members just rule out genetic tests? Could I have also inherited a predisposition to develop breast cancer?

Dr. Izquierdo clarified these and so many other questions for me, explaining that inheriting a predisposition to cancer is not influenced by the sex of the parent, in other words, this predisposition can be inherited through father or mother. Although this is a relevant risk factor for the development of cancer, in this instance, the risk factor is that women with more breast tissue are more likely to develop the disease.

He also explained to me that there are currently more genes that are known to be linked to the risk of hereditary breast cancer. That’s why he suggested I take a test to analyse a panel of genes with a scientifically proven link to breast cancer. He explained that not all these genes confer the same risk of cancer, nor in the same organs, but knowing whether you are a carrier of a mutation certainly changes the type of monitoring and preventative measures that you should adopt.

The truth is that I didn’t even hesitate to have the test done, and I think that decision has been monumental not only for me, but for my family as well.

We found out from the test that I had a pathogenic mutation in the PALB2 gene, which I probably inherited from my father, the major consequence being that I am four times more likely than the average person to suffer from breast cancer at some point in my life. As a result of these findings, my gynaecological check-ups are more frequent; I have to have an annual MRI, and an ultrasound and breast scan every 6 months.

This mutation is also linked to an increased risk of ovarian and pancreatic cancer, so as an additional control measure I have annual eco-doppler and tumour markers in my blood tests.

The Genetic Counselling and getting this test done have not only helped me, but my sisters too, who are also likely to have inherited the same mutation. With this information, I can take the appropriate preventative measures, I can prepare, and if I should ever develop the disease, I know that early detection is one of the most influential factors in the cure and prognosis of breast cancer”.

We are sure that Yolanda’s story has been useful to you. If you want to know more about how to approach preventative healthcare, please visit www.veritasint.com/mygenome 

Note: The name used in this account is fictitious in order to respect the patient’s privacy.

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