Thoughts About Genetic Breast Cancer Risk from a BRCA+ Daughter

September 29, 2017

Freddi N. is the teenage daughter of a previous H4TG blog contributor; she shared this essay with us since it related to our current Pink Link Connect blog contest asking survivors to share their thoughts on genes and breast cancer.

“You are too young to worry about this.” When my physicians brush off my fears about cancer and my risk, I can’t help but feel like a prisoner on death row, anticipating the worst. Knowing too much about cancer can be good and it can be bad. Knowing what the future has in store for you can shape your present as well. Inheriting a genetic mutation that puts you at an 85% potential likelihood of developing breast or ovarian cancer is daunting. My mother and my maternal grandmother both tested positive for the BRCA2 gene mutation, which unfortunately indicates that I have a 50% likelihood of inheriting the gene mutation as well.

Men and women with this mutation tend to develop cancer at an early stage in life like the members of my family.  Knowing that I have a 50% chance of inheriting the BRCA mutation, I will educate myself on the depths of this mutation, explore my family’s genetic inheritance and investigate ways in which I can decrease my risk factors.

In my quest to unearth as much information as I possibly could about BRCA1 and BRCA2 mutations, I have found that, if in fact I do have the mutation, I have an 85% chance of developing breast or ovarian cancer at an early age.  While the general population tends to have only a 25% chance of breast and a 17% chance of ovarian cancers, my genetic makeup raises my odds quite considerably.

In fact, BRCA mutations are found most amongst members of my heritage, Ashkenazi Jews. Everyone possesses the BRCA1 and BRCA2 gene but a woman's risk of developing breast and/or ovarian cancer is greatly increased if she inherits a deleterious mutation in the BRCA1 gene or the BRCA2 gene. BRCA1 and BRCA2 are human genes that produce tumor suppressor proteins. These proteins help repair damaged DNA and, therefore, play a role in ensuring the stability of the cell’s genetic material.  If you have a mutation, you lack the proteins essential for cellular reparation. In my case, since I am too young to be tested, when I am of age, I plan to meet with a genetic counselor.

My maternal grandmother was diagnosed with stage 4 breast cancer at age 66. It was metastatic and her life expectancy was 18 months. During that time, she was tested for BRCA1 and BRCA2 mutations because her mother and family history suggested that there was a causal link to these mutations. Eight months after her death, at the age of 42, my mother was diagnosed with stage 3C breast cancer. She was asked about her family history of cancer and quickly remembered that her mother was tested for BRCA and was positive. She was told that she had a 50% chance of also inheriting the mutation. Her mutation was BRCA2.

In order to lower her risk of recurrence, my mother underwent a radical bilateral mastectomy with Tram Flap reconstruction, six months of chemotherapy, radiation and a total hysterectomy, lowering her risk to only 15% reoccurrence. In addition to a family history of breast cancer that automatically increases my risk, my family’s genetic background must also be taken into account when assessing my future actions or inactions. My paternal grandmother had colon cancer and both my grandfathers had advanced prostate cancer. These cancers are all linked to the BRCA mutation putting me at a greater risk…85 plus percent.

Studies have shown that no risk reduction strategies exist for children and therefore testing for the BRCA mutation may not happen until I am 18. This was a hard pill to swallow for my parents who resisted this ideology and sought research programs by major universities that are conducting studies on early risk reduction strategies for children of BRCA positive parents.

When I turned 16, my parents informed me that although we were not actually going to test to see if I had the BRCA mutation, we were going to be taking precautions for both my brother and I to reduce risk. A healthy diet and plenty of exercise can be the first line of defense against cancer and practically every disease. My dad is a certified nutritionist and he uses his expertise to guide our family. My mother is living proof that a good outlook and a healthy lifestyle can galvanize and propel you to live life to the fullest. I will not let the fear of the unknown paralyze me and will instead use all the tools available to ensure that cancer does not stand a chance in my body.

Throughout my life I have witnessed cancer take lives. On the other hand, I have seen the bravery and courageousness of my mother’s battle. I know now that I have a greater risk of getting cancer due to my inherited genetic makeup. This could serve me poorly and leave me depressed and fated or ultimately bring me closer to appreciating consciousness, spirit, life, healing and help me to become very clear about what I want from my life. If I am one of the “85 percent” I have already won the battle.

-Freddie N.

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