Breast Cancer Is Complicated…

The complexity of somatic alterations in human cancer genomes.

In the past, when I have told people about my genetic mutation, I have gotten some interesting responses.  Someone once said to me that 5-10% of breast cancer is hereditary, and so why bother focusing such a small group of women in the larger context of the breast cancer movement?  This statistic is true….for now….and it really took me a while to come up with a satisfactory response to this question.  Here’s my answer:  nowadays, scientists view cancer as a genetic disease, rather than defining cancer by where it starts (i.e the breasts, colon, liver, etc).  I think we can see the end of cancer in my generation because of what we’re learning about genetics.

  • We know:  A cancer cell has damaged DNA which replicates itself and spreads.  Your body’s natural ability to suppress these cells, combined with environmental factors that trigger damage like chemicals, smoking, drinking contribute to your personal risk of cancer.
  • But there’s so much we don’t know.  Currently, there are over 600 different mutations which cause a high risk of breast cancer, and we only discovered the gene in 1994!  We are just beginning to understand the genetics of cancer.  We really don’t know what causes cancer.  However, the more we learn, the closer we may come to finding genetic mutations that cause the 90% of non-hereditary breast cancer.  Really, I think I’m fortunate to have a known mutation, because the information I have allows me to prevent myself from getting breast cancer.
  • And there’s so much to learn about the genetics of cancer So many unsolved mysteries!  Recently, five studies were published in Nature about the complexity of breast cancer.  There is a great synopsis of these studies from the PHG Foundation, an organization in the UK devoted to making science work for health.  These studies show the potential of whole genome technology identify new genetic mutations associated with different types of tumors.  There is such great complexity and diversity of the genetic changes and interactions underlying breast cancer.  Here is what I find really interesting:

It is becoming increasingly clear that the vast majority of tumors are not caused by a handful of common mutations, but are the result of rare or unique combinations of mutations that interact in unknown ways. Currently, our ability to identify new associations from large data sets far outstrips our ability to apply this knowledge.

Imagine the limitless possibilities that come about because of interactions between cancer-causing genetic mutations which we haven’t yet discovered!  Breast cancer is complicated – and it is genetic disease.  I believe that the best way to end breast cancer is for individuals to educate themselves about the complexity of this issue, and to take action.  We will need to tackle the problem from many different angles to see the end of cancer – and that includes my brave little 5-10% club of Previvors.

I think it’s time to change the conversation about breast cancer awareness.  A little less pink, and a little more bravery.




  1. Great post. One thing I think it’s important to understand about genetic risk factors is that they are not determinants. They are potentials. What determines whether an increased risk factor genetic or otherwise turns into actual cancer is what you personally do with the knowledge of the risk factor. If you learn that your risk profile is elevated, will you modify your diet, quit smoking, exercise more? Or will you bury your head in the sand, deny the science, feel like it’s hopeless and that there’s nothing you can do? And here’s the kicker: the way you answer this question *also* affects your risk profile. In other words, your destiny is not determined by genetics, not even close. The scientific consensus is that genetic risk factors constitute only 5% of your total risk. Over 75% of your risk comes from the choices you make in your daily life (with environment making up the rest).I encourage everyone to find out their family history. Why? Because our genes are not the only things we inherit. We also inherit our beliefs and practices around food, exercise, smoking and more. If there is a history of cancer in your family, this is an opportunity for you to break that cycle by examining these non-genetic inheritances, and consciously making the choice to listen to the science, change your behavior, and increase your lifespan, your overall health and your happiness.

  2. Suranji – Very insightful. I agree – genes are not necessarily determinants – they are potentials. Your comment makes me want to write a whole blog post to expand on this.

    In my own case, I spent years thinking that I could break the cycle of my family history with healthy habits….but eventually I decided that living in constant fear (given I had an 85% lifetime risk) just wasn’t worth it for me. For most women who have no family history of breast cancer – there is absolutely an opportunity to break the cycle by changing habits, beliefs, and behavior. My hope is that we can learn more about the genetics of breast cancer to make sure that people can better understand their risk factors. AND through this…perhaps find new/smarter ways to prevent breast cancer.


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