Thinking about BRCA prevention 10 years after mastectomies

As we approach January 2017 I am approaching the 10-year anniversary of when I removed my breasts to prevent breast cancer due to my BRCA2 mutation (January 11, 2007).  I am immensely grateful to arrive at this season fully healthy and having never experienced the cancer my mother faced when she was a decade younger than I am now.  I am also grateful for the role that my BRCA mentors played helping me through that difficult time in my life. Those women who shared with me their experience of preventive surgery and let me see the results made me able to make that hard choice to remove my breasts to protect my health.  Being BRCA is not a sisterhood that I would have chosen but I am immensely grateful for the friends that I have met along this path. 

Thank you!

What is next?

Me, my husband and our sons in August 2016

In my family, the next generation is beginning to grapple with our genetic legacy.  My sons and niece are now in or approaching their 20s and will soon need to decide on testing for our family mutation.  While I certainly believe my choice to have surgery was the right one for me and I am grateful for my health, I remember before my surgery wishing there were other options.  I also remember thinking that for the next generation, there would be.  And yet, here we are 10 years later and women like us are still choosing surgery to protect their health.

I have done a lot of studying of what has made the greater breast cancer movement so successful in spurring new breast cancer research in the past three decades.  The answer is actually quite simple: women banded together and 1) raised their voices to demand better surgery and treatment options, and 2) women banded together to raise the money to fund that research.  This is something the BRCA community has really not done well.  We have come together to support one another through our personal journeys and certainly there are far more educational resources now than there were 10 years ago, but we as a community, by and large, have not yet said "we want our daughters (and our sons) to have better ways of preventing the BRCA cancers that they face."

I don't want to sit with my niece and tell her that the only real option for preventing breast and ovarian cancer is to remove her breasts and her ovaries.  And yet I fear that day will come far too soon.

HeritX

This is why when my oncologist friend Thomas Bock asked me to join a new organization he was forming to focus exclusively on research to prevent BRCA cancers, including the prostate and pancreatic cancers that threaten my sons, I said yes.  That was two years ago. I have learned a lot since then.  I have met hundreds of researchers, attended scientific conferences, reviewed grant applications and many other things I never thought I would do.  

In early 2015 I sat in the office of one of the scientists who discovered my BRCA2 mutation.  He is still one of the most prolific researchers in BRCA. When Dr. Bock asked him what research he was doing on prevention he responded that he was not doing any.  In fact, he said that because women seem pretty happy with surgery and it is effective, he didn't really see the need for BRCA prevention research.  I am happy to say that due to the work that Thomas and HeritX are doing he has changed his mind and his lab is now actively involved in designing BRCA prevention projects.  This is only one example.  There are many others.  The bottom line is that 2 years ago there was essentially no research focused on preventing BRCA cancers and now HeritX has not only launched a number of projects but has also brought together an international collaborative working group of scientists who believe in this goal and who are working on it with us.

I believe that we can influence the future.  

In early 2017 HeritX will be launching a vaccine prevention research project.  Can you imagine if a vaccine could be available that would prevent our BRCA mutations from causing cancer to develop? Wow.  That would be a gift for my niece, my sons and all of the next generation. Will it happen soon?  No, likely not.  But there are scientists who not only believe this is possible but are ready to undertake this work. I can think of nothing better to support with my efforts and my donations than this research.  It is important not only to my family but to many others.  You can find out more about HeritX at www.HeritX.org.

As you consider your year-end donation priorities, please think about making a donation to support this work.  As Hilary Clinton famously said in another context, "It takes a village."

Wishing you and your family a happy and peaceful holiday season and a very healthy 2017!


Joi


PS - My mom is fortunate to be a long-term breast cancer survivor.  We are raising money together for HeritX.  You can visit our fundraising page here.


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Ending the family legacy of breast cancer

This week CBS's 60 Minutes took an in depth view of PGD -- preimplantation genetic diagnosis -- in a segment called "Breeding Out Disease."  PGD is actually a technology that has been in use for several years and we discussed it in Positive Results. Use of  PGD though is becoming increasingly commonplace.  Where a few years ago the only couples considering this technology likely would have been those who needed assisted reproductive technology and who were considering IVF anyway, now couples who can conceive "the old fashioned way" are considering IVF and PGD to end their family cancer history.  After watching generation after generation of women battle breast cancer, ovarian cancer, or both, it is not surprising that today's empowered young women want to control the destiny of their children.  Increasing numbers of these women are saying "This cancer ends with me!"

Here is an excerpt from Positive Results that discusses PGD:

"This mutation ends with me.

I am NOT passing it on to my children."

~Amy

Pre-implantation genetic diagnosis (PGD) is the newest technology available for prenatal diagnosis of genetic disorders. PGD involves micro-dissection of an embryo at the eight-to-sixteen-cell stage of development after in vitro fertilization (IVF). At this early stage, all the cells are undifferentiated—they each have the potential to grow into the placenta, amniotic membranes, or the complete fetus. One cell can be removed from the cell mass and tested for genetic diseases without any ill effect to the developing embryo. Embryos that are free of the genetic condition, such as a BRCA mutation, are then transferred to the uterus. A number of companies now offer PGD through networks of IVF centers throughout the United States. For couples who require IVF in order to conceive a baby, this is a reasonable option for additional peace of mind. If you are interested in PGD, ask your IVF provider if it has a relationship with a PGD testing lab. For those couples who can conceive the “old fashioned way,” using PGD would require IVF, including ovarian stimulation, harvesting of eggs through a procedure, artificial insemination, and then implantation.

What the 60 Minutes segment on PGD did not discuss is the true latest in reproductive technology: egg harvesting and freezing.  As women are delaying not only having children but also marriage in favor of careers, an increasing number of BRCA-positive women are facing a cruel dilemma:  doctors recommend that BRCA-positive women (especially BRCA1-positive women) remove their ovaries between the ages of 35 and 40 but many of these women find themselves approaching this deadline without a mate.  The solution many of these women seek is to preserve their future fertility by freezing eggs in advance of removing their ovaries.  If these women elect to keep their uterus, they can carry a baby to term even without their ovaries.  One woman I met recently had a toddler on her hip who was conceived in this way called her son her "miracle baby."  And she is not alone in choosing this route.  The next logical question is "Can I test my eggs to see if I might pass along my BRCA mutation to a child conceived from this egg?"  Although it is early days for this technology, which is most still done through studies, the answer appears to be yes, the egg can be tested prior to freezing and storage.  Perhaps 60 Minutes will discuss this in it's next segment.




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Happy Previvor Day!

This year National Previvor Day coincides with the first day of Breast Cancer Awareness Month just in time to reinforce the message that women who are at high risk for breast cancer need to be aware of their risk in order to have effective options for preventing disease and/or for detecting it at its earliest and most curable stage.  Do you know if you are at genetic risk for breast or ovarian cancer?  For more information visit FORCE: Facing Our Risk of Cancer Empowered and read Positive Results: Making the Best Decisions When You're at High Risk for Breast or Ovarian Cancer!





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Breaking News!!! Supreme Court Invalidates Patents on BRCA Genes!

Today the United States Supreme Court made history when it unanimously ruled that the Myriad Genetics’ patents on the BRCA1 and BRCA2 genes were invalid.

Specifically, the court ruled:

“It is undisputed that Myriad did not create or alter any of the genetic information encoded in the BRCA1 and BRCA2 genes. The location and order of the nucleotides existed in nature before Myriad found them. Nor did Myriad create or alter the genetic structure of DNA.”

The Court acknowledged the work done by Myriad in locating the BRCA genetic sequence among the tens of thousands of nucleotides on each chromosome but held:

“In this case … Myriad did not create anything. To be sure, it found an important and useful gene, but separating that gene from its surrounding genetic material is not an act of invention.”

So what does this mean?

• It paves the way for other companies to test for mutations on these genes and in fact companies have already stepped forward to offer BRCA testing.
• Patients will now have the opportunity for patients to get a second opinion to confirm their genetic test results prior to making life altering preventive surgery decisions.
• More women (and men) will have access to potentially life-saving genetic information because competition should lower the cost of these genetic tests
• No single company will be able to prevent others from conducting testing and research on the BRCA genes.

What does this decision mean for personalized medicine more broadly? This decision is a watershed moment with implications that reach far beyond the BRCA genes because approximately 25 percent of the humane genome has been patented. Several thousand companies currently own different slices of DNA and all of those patents have been invalidated by the Court’s decision.

The personalized medicine revolution is no longer being held hostage by the patent system.

Should you have questions about genetic testing, consult your genetic counselor and FORCE.




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Angelina Jolie’s Mastectomies: What All Women Need to Know

In light of Angelina Jolie’s announcement that she underwent a double mastectomy to prevent breast cancer, Books for Better Living asked Joi Morris, a woman who went through a similar ordeal, to share what every woman needs to know about hereditary breast and ovarian cancer risk.  The following article appears on the Books for Better Living website.


Angelina Jolie has made a career of playing strong women in film. By revealing that she had undergone preventive mastectomies to reduce her breast cancer risk arising from an inherited BRCA1 mutation, she is showing her mettle in real life. She wrote:

“I hope that other women can benefit from my experience. Cancer is still a word that strikes fear into people’s hearts, producing a deep sense of powerlessness. But today it is possible to find out through a blood test whether you are highly susceptible to breast and ovarian cancer, and then take action.”

Jolie, who is 37 years old, is fortunate to have access to the best medical care available. She could make the many decisions required with the best information available on her cancer risks. I too faced these decisions after learning of my BRCA2 mutation. I too was fortunate to have access to excellent health care and the support of a loving husband. But the choices are nonetheless daunting and emotionally fraught and far from simple or straightforward.

When to Seek Genetic Testing

The first decision is whether to seek genetic testing. It is estimated that more than 750,000 people in the United States carry a mutation on either the BRCA1 or BRCA2 gene, with approximately 90% of them not aware they are at risk. Jolie could act to protect her health because she knew her BRCA1 status. I took the test because my doctor recognized that my family medical history suggested a risk for a BRCA mutation. My mother is a breast cancer survivor who was diagnosed at the age of 43, one warning sign of a BRCA mutation.

Should you consider genetic testing? Not everyone should be tested, but if you answer yes to any of these questions, then you should seek out a genetics professional to discuss your family history and the appropriateness of genetic testing:  Read more




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