Survivors on Science: Hope for Breast Cancer Detection & Personalized Treatment

It's not something we want to talk about, but it's something we have to talk about.

Breast cancer will affect nearly all of us at one point or another if it hasn't already. We may know someone who has it, know someone who will get it, or we may receive the frightening news one day that we have it ourselves.

According to statistics at breastcancer.org, one in eight women in the U.S. will develop invasive breast cancer (breast cancer that grows into - or invades - surrounding healthy breast tissue) in her lifetime.

And while most of us immediately think of women when we hear the words breast cancer, a man can get it as well, though facing much less likelihood with a one in 1000 chance in his lifetime.

Still, no matter what your chances, like other diseases and cancers, breast cancer can strike at any moment like a true predator sneaking up on its prey. But in early May, researchers found some new arsenal in the defense against the disease that we might see coming. Take that breast cancer!

In a study marking the largest of its kind, medical researchers from the UK-based Wellcome Trust Sanger Institute, discovered five new genes and 13 new mutational signatures, or patterns, associated with breast cancer after the thorough analysis of 560 breast cancer genomes including 556 women and four men.

If scientific terms are lost on you - fear not. In simpler terms, genomes are made up of all the DNA in our cells and basically tell us a story about our medical history. Mutations, or changes in our DNA, are known causes of cancer. Here, thanks to hundreds of cancer patient participants, genomes, and the genes and mutations within them, may now tell us a little bit about the future, too.

In the study, researchers found that each patient had a very unique genome profile seemingly dependent on what type of cancer the patient had and also where their mutations had formed. This information can help identify other patients who carry like genes and mutational patterns, which could not only help to detect breast cancer earlier in other patients, but also help to distinguish one form of breast cancer from another paving the way for more targeted treatment. Mutation location within each genome also gives researchers an idea of which cancer therapies may work for that particular patient.

You may remember in 2013 that Angelina Jolie made headlines when she decided to undergo a double mastectomy. Angelina is a carrier of the BRCA1 gene, which ups the risk of both breast cancer and ovarian cancer. Specifically, in Angelina's case she was told she had an 87% chance of breast cancer and a 50% chance of ovarian cancer. In a decision that we’re sure was not easy, she opted to go the preventive route and remove both breasts to beat the odds. Two years after her double mastectomy Angelina made another tough call and opted to remove her ovaries and fallopian tubes due to the remaining risk of ovarian cancer. Of course each patient's case is unique and Angelina made this point clear in an op-ed piece to the New York Times noting that carrying the gene alone may not be a reason to jump right into surgery. In Angelina's case not only was she a BRCA1 gene carrier, but there was also a very strong presence of cancer in her family’s medical history having lost her mother, grandmother and aunt to cancer. Medical professionals agreed this pattern greatly increased her risk.

The BRCA1 and BRCA2 genes were discovered in the early 90s yet decades later we are still learning more about them. In the recent study we are discussing here, in addition to finding the new genes and mutational signatures, researchers also found that carriers of the BRCA1 gene, and even of the BRCA2 gene, had genome profiles different from other cancers and even different from each other. This gave researchers even more proof that each case is highly individual and can be used to identity other like cases in the future of other patients.

For those without a family history of breast cancer or other forms of cancer, genetic testing has not been a typical line of defense. And there are things to consider with genetic testing including the emotional and psychological effects of learning you may carry high risk genes and therefore genetic counseling is always encouraged. Despite your personal feelings about genetic testing or whether it is something your doctor may suggest for you, it's definitely exciting to see how research has grown over the years and continues to grow. And obviously while the utopia of all goals is to one day find a cure – strides toward a better aimed attack in the meantime? We'll take it!

As you know we believe that staying informed is key -- simply stated: knowledge is power and power is part of having the Eye of the Survivor, something we know a thing or two about ;)

So be sure to visit us later this month when we introduce our August survivor and continue to learn from our awesome community of fighters.