Increased Awareness Leads to Accelerated Research

About a million people in the United States carry a BRCA mutation; less than 10% of them are aware of their elevated cancer threat. Recent media coverage of Angelina Jolie’s BRCA status and risk-reducing double mastectomy has brought unprecedented attention to these issues. These reports will narrow the awareness gap while erasing stigmas that are associated with inherited mutations and mastectomy.

One topic that has not been highlighted, described or even discussed is what this publicity could do for hereditary cancer research and clinical trials. Despite all this attention, many people have been quick to point out that BRCA mutations are not common in the general population, and the majority of breast and ovarian cancers are not hereditary. Most cancer clinical trials focus on women with average risk or sporadic cancer; only a handful of research studies are specifically designed for people with BRCA mutations or other inherited cancer syndromes. Recruiting enough qualified research participants – especially for clinical studies that focus on smaller populations – is a critical research challenge. But it is a crucial priority, because clinical trials are required to advance medical care.

As an advocate, I have witnessed the difference that research can make for specific populations. Just 15 years ago, the outlook was bleak for women who developed aggressive breast cancers that overexpress the Her2neu protein. These cancers were known to be aggressive, with high rates of recurrence and mortality. But researchers recognized that some features of these tumors made them vulnerable to therapies that  targeted the Her2neu protein. This led to the development of a targeted therapy known as Herceptin, which received FDA approval in 1998 and revolutionized treatment for women with this type of breast cancer. Herceptin paved the way for development of several newer targeted drugs to treat these tumors. Today, many more women diagnosed with Her2neu positive breast tumors survive their cancer and never develop a recurrence. We can learn from the story of Herceptin (which has been chronicled in books and movies); the role that advocacy and awareness played in its development, and the challenges that had to be surmounted for eventual FDA approval of the life-saving drug.

That is precisely the type of focused effort (and results) we need for hereditary cancers, which tend to act more aggressively than other cancers, and to occur at a younger age. There are special features in the cancers of people with BRCA mutations that open up opportunities to develop new and better agents. Right now, we are teetering on the cusp of exciting research that could revolutionize treatment and prevention of hereditary cancers. PARP inhibitors, for example, are medications that were specifically designed to combat BRCA-associated cancers. Clinical trials are open and enrolling participants to determine if these agents improve survival in people with mutations. For example, the BROCADE Study is a large, phase II PARP inhibitor study enrolling people with advanced, BRCA-associated breast cancer. Large studies enrolling mutation carriers with ovarian cancer will be opening soon.

As PARP inhibitor research progresses, newer agents are also being studied to see if they may work particularly well for hereditary cancers. At the recent American Association of Cancer Research (AACR) meeting, results were presented on a combination of sapacitabine and seliciclib, two new drugs that may work particularly well for BRCA-associated cancers. Another new agent called PM01183 is in early clinical trials for people with advanced, BRCA-associated breast cancer. Might these new drugs hold the key to improved survival and better quality-of-life? Could PARP inhibitors or newer agents revolutionize treatment for hereditary cancers, and turn out to be our community’s Herceptin? These studies fill me with hope! But the only way to know is through clinical trial research, which requires recruiting a sufficient number of volunteers.

The most significant hurdle facing us is completing these research studies so that we can prove whether or not these new drugs work. Last year, a major study on hereditary ovarian and fallopian tube prevention and detection closed due in part to lack of participants. The study closure was a tragic loss for our community; and more so, could send an unfortunate and untrue message to researchers and funding agencies that the BRCA population is too small and too hard to recruit. While we continue to fight hard to get more hereditary cancer research funded, we must also devote resources to raising awareness and spreading the word about current research opportunities open to people with BRCA mutations or hereditary cancer.

One huge benefit of celebrities coming forward with their stories is that more people are motivated to learn about their inherited risk, and consider genetic counseling and testing. Our community will continue to grow as more people learn they carry an inherited mutation. FORCE will continue to lead the way; uniting all people facing hereditary cancer and providing support, education, and access to the latest research studies. Progress may feel slow and incremental, but an increasing attention to hereditary cancer may be just what we need to propel research and outcomes to the next level.

For more information on participating in hereditary cancer research, visit our website’s Clinical Trials and Research section. Over the next few weeks we will be updating the prevention, detection, and treatment studies section of our website, so stop back frequently. Our next Be Empowered webinar on PARP inhibitor research will be held June 27.

Maximizing Access to BRCA Testing by Involving Genetics Experts

Note: The below is an updated version of a post in 2008 right after the documentary In the Family was released, and actress Christina Applegate announced she had a BRCA 1 mutation. Five years later, this post is more relevant than ever. 

As the dust clears since Angelina Jolie went public with her BRCA status, the impact of her revelation has been mixed. On the positive side, the increased awareness of HBOC has opened up a public dialogue on genetic counseling, testing, cancer prevention, and access to care and has encouraged people to educate themselves about these topics. More people are considering their family history of cancer, pursuing genetic counseling and testing, and learning their options to prevent or to detect cancer earlier. Following these steps will save lives. Unfortunately, people’s initial inquiries about testing are not always met with credible information. We know from experience that where people go for additional information, resources, and support matters for their outcomes. FORCE has documented cases where people received inaccurate information about genetic testing which led to negative health consequences.

Fortunately, many people are finding their way to the expert-reviewed information and resources from FORCE and are being referred to genetics professionals. Calls to our toll free helpline have increased in direct proportion to media reports about BRCA. One of the frequent requests we receive is about financial assistance for genetic testing. Many of these calls are from individuals who have a family history of cancer and health insurance, but their insurance has denied covering genetic testing.

Many of these insurance denials and high out-of-pocket costs related to testing occur because people have not first met with a qualified expert in cancer genetics. When you consider the $3,000+ cost for “full-sequencing” BRCA 1 and BRCA 2 testing, where the entire gene is evaluated, it’s easy to understand why genetic testing is beyond the means of many people. However, under certain circumstances, a less extensive test may be more appropriate and can lower the price of testing by thousands of dollars. In other cases the choice of which member of the family receives genetic testing first can also affect cost and insurance coverage and risk assessment for the entire family. Some of these insurance denials stem from an uninformed health care provider ordering the wrong test or not identifying the best first person in a family to receive testing.

The high cost of genetic testing for BRCA is due to the fact that only one company—Myriad Genetics—can perform the gene test in the United States. They were granted exclusive patents on the BRCA genes and consequently control everything about BRCA testing, including the price. Even as the cost of genetic technology has decreased, Myriad keeps raising the price of their BRCA test.

A specially trained genetics expert will first assess an individual’s family medical history, determine which test is most appropriate, and identify which family member should be tested first. Seeing a genetic counselor prior to genetic testing can make the difference between having a test denied or covered by insurance. In fact, for people who meet specific National Comprehensive Cancer Network (NCCN) standard-of-care guidelines, many insurance companies, will pay for both genetic counseling and testing. The Patient Protection and Affordable Care Act also outlines that people who meet certain guidelines qualify for genetic counseling and testing which must be covered by their insurance without copay or deductible. A team of genetics and cancer experts can be good advocates for insurance coverage of genetic testing.

When genetic testing proceeds without counseling there is a higher likelihood of inappropriate or costlier testing. Myriad is the only entity who stands to benefits from inappropriate BRCA testing. In 2009, FORCE presented testimony to the Secretary of Health’s Advisory Committee on Genetics outlining our concerns about the aggressive marketing that was leading to increased cost and harm to our community. These concerns still remain true.

The American Civil Liberties Union (ACLU) has filed a lawsuit to invalidate Myriad’s patents. FORCE has filed an Amicus Brief in support of the ACLU’s case. The Supreme Court has heard the case and they are expected to rule by this summer. Until the cost of genetic testing goes down, genetic testing will remain out of reach for too many people, even for those who meet standard-of-care guidelines. On a national level, financial support is limited. People who meet certain criteria and have annual income below the poverty level may qualify for testing under Myriad Genetics Laboratories financial assistance program. For people whose insurance does not cover the full cost of testing, co-pay assistance is available through the Cancer Resource Foundation. Regionally, FORCE has been able to navigate many people who contact us for assistance to programs in their area but there are still many gaps in access to care.

For the uninsured or underinsured women who receive assistance for genetic counseling and testing, what then? Experts recommend annual mammograms and MRI for BRCA-positive women ideally beginning at age 25. Patient Services Incorporated (PSI) has a program funded by Right Action for Women which covers the cost for MRI for eligible young high-risk women. The National Breast and Cervical Cancer Early Detection Program, provides free mammograms for women over 40. Gaps still remain for financial assistance for breast MRI for high-risk women over age 40 and for mammograms for women younger than age 40. Financial resources for women who choose to undergo  prophylactic surgery is even more limited. Like most disparity issues in health care, the needs are many and existing resources are few.

With the media spotlight on hereditary cancer, and demand for BRCA testing increasing, FORCE has continued to emphasize the importance of referral to appropriate experts for genetic counseling before and after genetic testing. Until the disparity and cost of testing issues are resolved, given that genetic testing is expensive, financial resources are limited, and not everyone has equal access to care, the best way to maximize the number of appropriate tests, is to include genetic counseling with experts prior to the ordering of genetic tests.

Every Story Matters

Since Angelina Jolie recently shared her personal experience with genetic testing and prophylactic surgery in the New York Times, public awareness of hereditary cancer is at an all-time high. The media surrounding Ms. Jolie’s revelations has also provided unparalleled opportunities for members of the HBOC community to share their personal accounts as well.

How did you learn about hereditary cancer? Was it a chance meeting with someone who was high risk? A brochure? A TV health show? For me, it was a magazine article I read back in 1997. When I was diagnosed with breast cancer at age 33, my doctors recommended a single mastectomy on one side, but they never told me about genetic counseling or testing, despite my having several red flags for a hereditary syndrome: young onset breast cancer, Jewish background, and a paternal grandmother who died young of abdominal cancer. I certainly would have made different surgical choices if I had known I carried a mutation. The article motivated me to pursue genetic counseling and testing, and ultimately, I chose prophylactic surgery, which discovered early cancer in my healthy breast.

All of our stories are important. Each story we share and every article about HBOC raises awareness and provides an opportunity for someone to recognize himself or herself in the writing and to pursue genetic counseling, testing, and risk-management options.

In a brilliant example of how awareness can save lives, reporter Stacey Sager first shared her hereditary cancer story on WABC-TV in New York in October 2011. Stacey was on a campaign to raise awareness and save lives. A 13-year breast cancer survivor at the time, Stacey had undergone testing for BRCA and found that she carried a BRCA1 mutation. Testing and BSO saved her life. As Stacey bravely allowed cameras to document her BSO, early precancerous changes were found in her fallopian tubes. (Ovarian cancer is rarely found early, other than during prophylactic surgery.) When Stacey wrote a guest blog for Thoughts from FORCE, a reader responded with the following comment, “For years my doctors have been trying to get me to take the BRCA testing because of my family cancer history, but I simply was not ready. After watching your televised story I went to the doctor the next week for my BRCA test.”

Stacey’s story resonated with and motivated more than one person. Celebrity singer/songwriter Kara DioGuardi happened to catch Stacey’s story while in New York City while she was appearing in the Broadway production of Chicago. Kara, who was interviewed by People magazine, shared that a chance viewing of Stacey’s story changed her life. Kara knew about her family history of cancer, but she didn’t know about BRCA testing until that crystalizing moment. When she returned to L.A., she immediately sought care for genetic testing, and then underwent BSO. A dear friend who agreed to be a surrogate for Kara and her husband was implanted with Kara’s last remaining embryo from prior IVF and carried their baby to term; little Greyson is now 3 months old. Kara shares more of her story in a moving interview where she gets to meet Stacey in person and thanks her for publicly sharing her story and possibly saving her life.

Experts estimate that less than 10% of the almost 1 million people in the United States with a mutation are aware of their high-risk status. We know that risk assessment and intervention can improve survival for high-risk individuals. But people cannot take action if they are unaware of their risk. It is up to us to raise the profile of HBOC until every person has access to the tools, information, and health care experts to assess their risk, and every high-risk person has the education, support, and resources they need to make informed decisions about their risk.

In her Voices of FORCE account for our Joining FORCEs newsletter, member Lita Poehlman shared how a chance meeting with a FORCE member led her to genetic counseling and testing, and subsequent prophylactic surgery discovered precancerous changes. She credits that chance meeting with saving her life. These personal anecdotes remind us that every act of sharing is significant and every story matters!

Other publications share accounts from the HBOC community, including several  memoirs: Previvors, Pretty Is What Changes, What We Have, Apron Strings, Beyond the Pink Moon, and Pink Moon Lovelies. The documentary In the Family (which is available for free viewing online until May 26) follows the intimate story of filmmaker Joanna Rudnick and several families facing hereditary cancer. Our community blog page has links to the HBOC  blogosphere, and the Voices of FORCE section of the website is filled with your stories. You can add your story and voice to our pages. Writing and sharing your accounts raises awareness about the impact that hereditary cancer has on everyday people, inspires others to learn more, engenders compassion and understanding for our community, and saves lives.

Gene Discovery, Patents, and the Community

Recently a dear friend sent me a link to an article in the February 1996 issue of Nature Medicine. The article by journalist Adam Marcus covered a media event and panel of women’s rights advocates expressing concern about Myriad’s impending patenting of the BRCA1 gene. Panelists declared unregulated genetic testing to be the coming century’s foremost threat to individual liberty. Incredibly, 17 years after the publication of Adam Marcus’ article, the debate is still ongoing—the issue of gene patenting and the consequences of lacking regulation regarding gene patents are still present and as relevant as they were then.

Admittedly, I missed this article the first time around. In 1996, I was more likely to be reading the Journal of the American Veterinary Medical Association than a human medical journal. With a toddler, a budding veterinary career, and no significant family history of breast cancer, my focus was not on hereditary cancer. In fact, genetic testing and gene patents were furthest from my mind. But my diagnosis with breast cancer eight months later and subsequent revelation that I have a BRCA2 mutation changed that.

When I was first tested for a BRCA mutation in 1998, I was fortunate; my testing costs were covered by my health insurance. I was very grateful to have access to the test; my gratitude extended to the laboratory that made the test available to me. Although I was initially tested without genetic counseling, I went to MD Anderson Cancer Center for a second opinion and eventually found my way to a genetics expert and had access to up-to-date and credible information from experts. It wasn’t until I became immersed in my work with FORCE that I became aware of deeper issues that were the consequence of Myriad holding patents on the BRCA genes.

In 2009, Joanna Rudnick released her documentary In the Family, which shined a spotlight on Myriad’s gene patents and some of these consequences. The documentary included an eye-opening interview with Dr. Mark Skolnick, founder of Myriad Genetics. Joanna questions how a gene—a product of nature—can be patented, saying “It’s like patenting your thumb.” Skolnick compares Myriad’s patents on the BRCA genes to patents for ipods, telephones, and computers, and cavalierly asserts “there’s no controversial patent. It’s all very easy to understand if you take the time.”

In the film, Joanna brilliantly follows the Myriad interview with an interview of Dr. Mary-Claire King, who was credited with identifying the location of the BRCA gene when she was a researcher at University of California at Berkeley. Dr. King has dedicated herself to the research that proved the existence of hereditary breast cancer gene mutations. Her research laid groundwork that sent many laboratories racing to be the first to isolate and clone the gene for genetic testing.

In Rudnick’s film, Dr. Skolnick says, “I think the single greatest inventive thing I did was to create Myriad. We did it to win the race…and we won.” Asked point-blank why the cost of the test is increasing, Dr. Skolnick replies, “that’s a good question, and I think there’s a point at which we have to start looking at decreasing the cost of the test.” Yet, four years after the documentary was released, the cost of testing has gone up—BRCA testing is more expensive, even though the technology for sequencing DNA has become less expensive.

The gist of Dr. King’s interview starkly contrasts with Dr. Skolnick’s statements. Dr. King speaks about genes for which she holds patents, saying, “The critical thing about the patents we hold is that none of them are exclusively licensed. So they are completely open for anyone to use for research purposes and any company that wishes to license them can license them for a trivial amount of money.” King mentions that her last royalty check amounted to $2.73. In contrast, the February 6 edition of the Salt Lake Tribune reports Myriad’s earnings: ”Myriad projects full-year 2013 revenue will fall between $575 million and $585 million. That would be a 16 percent to 18 percent increase over fiscal 2012.” The contrast is apparent and appalling.

Over the years, FORCE has appealed to government agencies and spoken to the health care community and the public regarding Myriad’s exclusive patent, and explained how the corporation’s marketing strategies and policies have increased the burden on the hereditary cancer community that we serve. In 2008 and again in 2009 we testified to the Secretary’s Advisory Committee on Genetics Health and Society, expressing our concerns with direct-to-consumer marketing of genetic tests, and specifically Myriad’s marketing practices, which we feel encourages BRCA testing without first receiving genetic counseling from qualified experts trained in cancer genetics. In our opinion, their aggressive marketing strategies have been harmful to members of our community.

In 2009, the American Civil Liberties Union filed a lawsuit challenging Myriad’s patents on the BRCA genes. On April 15, 2013 the U.S. Supreme Court will hear oral arguments on gene patenting. This hearing will represent the culmination of four years of the legal tug-of-war between Myriad Genetics and the plaintiffs, which included the ACLU and a long list of individual, advocacy, and health care professional groups. FORCE agrees with the ACLU that exclusive gene patents negatively affect access to care and research and we have filed an Amicus (Friend of the Court) brief on behalf of plaintiffs. You can read our testimony to the United States Patent and Trademark Office on the topic of how exclusive gene patenting impacts research and access to care. The Supreme Court oral arguments will be open to public participation.

For those who wish to learn more about Dr. King’s work, Decoding Annie Parker is a new  movie that follows the parallel lives of Dr. King and Annie Parker, a Canadian woman whose family was impacted by hereditary cancer. Based on a true story, the film raises the profile of Dr. King’s contribution to the discovery of hereditary breast and ovarian cancer syndrome and the BRCA1 gene mutation. It is sure to resonate with many in our community. FORCE is a proud charity partner of the movie, which stars Helen Hunt as Dr. King. A special screening will be held April 2 in New York City. FORCE will hold  screenings of the film in other cities. Stay tuned for updates.

Hopeful Progress in Ovarian Cancer Prevention Research

In 2008 FORCE conducted a survey to learn about research priorities for the HBOC community. We learned that women want better methods for ovarian cancer detection and prevention for ourselves, our children, and future generations. For this reason, we have worked closely with researchers exploring new options and we have carefully followed and shared with our community the progress in ovarian cancer detection and prevention.

Since BRCA testing became available, experts have recommended bilateral salpingo-oophorectomy or BSO (removal of the ovaries and fallopian tubes) for women with mutations between the ages of 35 – 40 or after childbearing is completed. Until large studies on women with mutations were completed, there was little data and only common sense to back up this recommendation. Later, research proved that for women with BRCA mutations removing the ovaries and tubes lowers the risk of developing and dying from breast cancer and ovarian cancer. I recall when the studies were published and the media was flooded with articles about how this “simple surgery” can lower risk. At the time, I was about 3 years out from my BSO at age 35 and dealing with significant surgical menopause side effects. I recall thinking, “Simple for whom?”

Don’t get me wrong; BSO is often an outpatient procedure with minimal surgical risk and scarring. The research on risk and survival is incredibly important and significant, and finally proved what experts long suspected. But the use of the term “simple” made it seem like these decisions were easy. On a personal and professional basis, and almost daily, I am reminded how difficult the decisions are. Many women recover quickly after surgery and their quality-of-life remains the same. But others suffer from side effects and long-term health and quality-of-life consequences from early menopause. The decision for surgery can be difficult and consequential for many women.

In the last few years, studies on high-risk women suggest that many ovarian cancers in BRCA gene mutation carriers may actually start in the fallopian tubes. In 2009 and 2010 at our annual conference experts presented the possibility that early detection or prevention focused around the fallopian tubes might allow women to temporarily delay BSO until closer to natural menopause. But medical experts need evidence that it is safe and effective before they can recommend salpingectomy (removal of the fallopian tubes) as a risk-reducing option. This requires a research study comparing outcomes of women who have salpingectomy, women who have BSO, and those who choose surveillance. The design of such a study faces several challenges. A big concern has been whether or not high-risk women would be willing to participate in a prevention study examining fallopian tube removal followed by removal of the ovaries later.

To answer this question, in 2011 FORCE conducted a survey on attitudes of high-risk women towards participating in ovarian cancer risk-reduction research. Preliminary results were presented at our 2011 annual conference and shared on our blog. Almost one-third of the 333 respondents would consider participating in a prophylactic salpingectomy study. We shared this finding with the research community as evidence that a salpingectomy study would be feasible and that women would enroll in such a study.

At our 2012 conference, gynecologic oncology experts Dr. Illana Cass and Dr. Douglas Levine presented the pros and cons of further research on salpingectomy to lower the risk in high-risk women.  The presentation used a debate format and presented two sides of the salpingectomy issue:

Arguments against developing a salpingectomy study included:

• Although many cancers in high-risk women may start in the fallopian tube, we have no proof that all ovarian cancers begin in the tubes.
• The benefits of salpingectomy are unknown and likely less substantial than BSO.  The surgery is unlikely to impact breast cancer risk. Meanwhile, there are well-documented benefits of BSO for mutation carriers.
• Many experts are concerned that women who undergo surgery to remove only the fallopian tubes will not return for additional surgery to remove their ovaries after they undergo natural menopause.
• Designing such a study would require a large, costly, cooperative research effort that would take over a decade, thousands of high-risk women participating, and massive recruitment and follow-up effort.

Despite these valid concerns, there were strong arguments presented in favor of studying salpingectomy as a risk-reducing option for high-risk women, including:

• Salpingectomy might serve as an “interval surgery” to manage and lower risk in high-risk women who are not ready for BSO and would otherwise opt for surveillance only.
• Women who undergo salpingectomy can maintain their ovaries longer and avoid long-term medical consequences of surgical menopause.
• This type of large-scale research would provide valuable information about development, prevention, and treatment of ovarian cancer for women with BRCA mutations and those without.

Both presenters at our conference agreed on one important conclusion: the time is right for additional research on salpingectomy.

Fortunately, other medical experts agree. During the Gynecologic Oncology Group meeting this January, the Cancer Prevention and Control Committee approved further development of a concept to design a feasibility study of risk-reducing salpingectomy. Many proponents, including the National Cancer Institute’s Division of Cancer Prevention and FORCE enthusiastically endorsed designing such a study. It’s important to note that despite this progress, it still may be more than a year before a salpingectomy study would open at GOG sites around the country.

We know that these studies are needed and that many high-risk women would consider participating in them. As with the development of new PARP Inhibitor research studies (which I blogged about last week), I feel optimistic about salpingectomy studies moving forward and proud of FORCE’s hard work and contributions in promoting these studies. The voice of the hereditary breast and ovarian cancer community has been heard. Our community is highly motivated to participate in hereditary cancer research and once the study is developed and open, I feel confident that women will enroll. Please stay tuned for further updates. To read more about fallopian tube and salpingectomy research, read our Research Updates article and view our on-demand webinar on this topic.

Drawing Attention To High-risk Screening

Reports are everywhere in the media about which celebrities underwent prophylactic mastectomy, the difficulty of their decision, and why these women made the choice. These media reports can be helpful to our community as they raise awareness of hereditary cancer risk and risk-management and remove the stigma of mastectomy. However, given the media focus on mastectomy, it would be easy to assume that surgery is the only option for high-risk women, when in fact, there are several options available to women who are at increased risk for breast cancer. When the media focuses solely on surgical risk-management, they may inadvertently send a message that this the only way to manage increased risk for breast cancer. Some women may avoid seeking information about their risk for fear that their only recourse will be surgery.

Risk is a spectrum. We know how to identify individuals in the highest risk category for breast cancer—women with a BRCA1 or BRCA2 mutation face some of the highest known lifetime risks for cancer, as high as 85% compared to 12.5% for women of average risk. Other gene mutations are also linked with a high risk for breast cancer, including Cowden Syndrome that is associated with a mutation in the PTEN gene, and Li Fraumeni that is associated with a mutation in the P53 gene. Like women with BRCA mutations, women with these other mutations face a high lifetime risk that is usually younger at onset and can be associated with a more aggressive cancer.  Continued media attention highlighting genetic counseling and appropriate use of genetic testing can be life-saving. For example, a recent publication estimated that less than 10% of women with a BRCA mutation are aware of their risk.

Current expert guidelines recommend several risk-management strategies for high-risk women with these mutations. National guidelines for breast screening in women with BRCA mutation include annual MRI and mammogram beginning at age 25 or 10 years earlier than the youngest cancer in the family. Surveillance may also be coupled with pharmacoprevention; usually tamoxifen, which has FDA approval for use to lower risk of breast cancer in high-risk women. High-risk surveillance has been shown by research to find cancers earlier when they are more treatable. But surveillance is not infallible, and we know that for some women, the cancer will not be found until it has spread outside the breast and lymph nodes. Therefore, the national guidelines also support the discussion of prophylactic or risk-reducing surgery. Although drastic, it is the most effective means for lowering the risk for breast cancer in high-risk women. Surgery is not for everyone, and surveillance is considered by health care experts to be a viable option for high-risk women to manage their breast cancer risk. Research has shown that risk-reducing mastectomy does not improve overall survival – even in women who are at very high risk – although other outcomes may be more important to women, including avoiding a cancer diagnosis or the consequences of treatments such as chemotherapy, radiation, and axillary dissection.

Genetics research is improving our ability to pinpoint risk along the risk spectrum. We can now better identify women who are of moderately increased risk. Emerging panels are looking for changes in multiple genes beyond BRCA, PTEN, and P53 that may increase a woman’s risk for breast cancer that confer an “intermediate-risk” of about 20% or higher lifetime risk for breast cancer. Women with a strong family history of breast cancer with no identified cancer mutation also fit this category. Experts have guidelines for women of intermediate breast cancer risk. The American Cancer Society recommends that women with a 20% or higher lifetime risk for breast cancer undergo annual breast MRI in addition to mammograms, starting at a younger age. Other known risk factors may influence women’s risk management decisions, including having very dense breasts that are hard to image or prior abnormal changes on a biopsy, such as atypia or LCIS.

Most women with higher-than-average risk for breast cancer begin with surveillance. Some may ultimately choose to undergo risk-reducing surgery later based on new information, abnormal biopsies, or other factors.

A lot of misinformation and misunderstanding still surrounds breast cancer screening, and women undergoing breast surveillance need credible information and peer support. Some health care providers continue to tell women that they are too young or do not need mammograms or MRI. And research is ongoing with new studies looking at ways to improve breast cancer detection in high-risk women. Medications such as metformin are being investigated for lowering risk of breast cancer. Like all aspects of living with increased cancer risk, some aspects of surveillance differentiate and isolate women from their average-risk peers.  By building a strong and unified community, educating women, providing peer support, and advocating for more research and better options, FORCE will continue to provide needed resources for this portion of our community. The stories may not be as exciting or as compelling to the media as those about prophylactic mastectomy, but we must also continue to remind the media that many options are available for women who are at increased risk for breast cancer, and emphasize the importance of consulting with genetics experts to receive credible, personalized information prior to making any risk-management decisions.

Weighing the Risks and Benefits of Screening Mammography

Two recent research articles have questioned the value of mammograms and opened up a dialogue about possible benefits and harms of screening for breast cancer. One study looked at mammography in the general population and the other in high-risk young women. Both studies raise interesting concerns, but neither provides the definitive answers needed to dismiss mammography as a screening tool.

The first article looked at large population-based statistics over three decades and concluded that although mammograms found more early cancers, they did not lead to a similar reduction in cancers diagnosed at a late stage. The authors conclude that screening mammograms are leading to the overdiagnosis and treatment of a substantial number of women. Based on these conclusions, the authors question the benefit of screening mammograms for the general population.

Our review of the research and conclusions of this article can be viewed here. Some of our concerns are:

• The study combines DCIS (a type of non-invasive cancer) and stage I breast cancer in the same category as “early-stage” breast cancer even though stage I breast cancer behaves differently than DCIS.
• The study was not designed to distinguish women by age or outcome.
• The authors imply that earlier diagnosis equals overtreatment. However, there are tests available that look at tumor samples to better determine which early-stage cancers are more likely to behave aggressively and which women would benefit from further treatment. If we don’t find these early cancers through screening then we lose an opportunity to tell which ones are more likely to become advanced.
• Changing screening practices to lower the number of women that are overdiagnosed could lead to an increase in women being diagnosed at a stage requiring more extensive treatment.

In an emotionally-charged opinion piece in the New York Times entitled “Cancer Survivor or Victim of Overdiagnosis?” one of the study authors made these recommendations:

“We must redesign screening protocols to reduce overdiagnosis or stop population-wide screening completely. Screening could be targeted instead to those at the highest risk of dying from breast cancer—women with strong family histories or genetic predispositions to the disease. These are the women who are most likely to benefit and least likely to be overdiagnosed.”

Personalizing screening recommendations based on risk makes sense. Unfortunately, the health care community doesn’t always use the risk-assessment tools available to help identify women in the highest risk category. Many women with BRCA mutations do not learn that they are high risk until they are diagnosed with breast cancer, often based on a screening mammogram. Changing screening guidelines will disproportionately hurt these women in our community.

The author also suggests:

“What should be done? First and foremost, tell the truth: women really do have a choice. While no one can dismiss the possibility that screening may help a tiny number of women, there’s no doubt that it leads many, many more to be treated for breast cancer unnecessarily. Women have to decide for themselves about the benefit and harms.” 

As someone on the receiving end of a mammogram call-back, and ultimately, a breast cancer diagnosis, I understand how anxiety-provoking screening and biopsies can be. Relaying to women the possible consequences if their screening finds an abnormality is critical. A balanced discussion should also include information about the possible consequences of a delayed diagnosis, the additional treatment that might be required for later-stage diagnosis, and the existence of decision-support tools such as Oncotype DX and Mammaprint and other technologies that can help determine which early stage cancers, once found, are more likely to behave aggressively.

The author goes on to state the following:

“But health care providers can also do better. They can look less hard for tiny cancers and precancers and put more effort into differentiating between consequential and inconsequential cancers.”

Research is ongoing to determine which cancers are more or less likely to behave aggressively. Currently we do have the technology to test breast tumors for markers of aggressive behavior. But these tests require detecting the tumors and sampling them through biopsy. I strenuously disagree with his suggestion that doctors “…look less hard for tiny cancers and precancers…”  and the assertion that diagnosing breast cancer at early stages equates to overdiagnosis and treatment. If we pass up the opportunity to find these abnormalities with mammograms and biopsy, we deprive women of critical information on which to base their health care decisions.

A second study raised interest and alarm about mammograms in high-risk women younger than age 30.  In this study researchers concluded that exposure to ionizing radiation before the age of 30 is associated with an increased risk of breast cancer. Closer review of this second article, however, highlights areas that warrant more examination before we eliminate mammograms as screening tools for young previvors. Questons have also been raised about this study’s design and conclusions. (You can read our full review of the study here.) Some of the concerns include:

• The increased breast cancer incidence when comparing those with no radiation exposure to those with any exposure between ages 20-39 was not statistically significant.
• The estimated radiation doses used in this paper were self-reported and therefore subject to “recall bias.”
• Although MRIs are very sensitive for finding abnormalities in the breast, mammograms find microcalcifications, small changes that can indicate an early cancer which are sometimes missed by MRIs. There is concern that in eliminating mammograms, some of early cancers might be missed until they are more advanced.

Members of the FORCE Scientific Advisory Board agree that the current study addresses a critical question that must be answered, but generally feel that the results of the current study are not conclusive. More research is needed to clarify the possible link between radiation exposure and increased cancer risk in BRCA1/2 carriers; expert panels will continue to update screening guidelines based on those future results.

Although imperfect, mammography does save lives, and we must apply all the means we have to save as many lives as we can.  More research is needed to determine if the harms of diagnosis and treatment outweigh the consequences of missing cancers, and to provide a clearer understanding of how many more lives will be lost if guidelines are changed to remove the recommendation of screening mammography. If policy-makers choose a shared decision-making strategy for breast screening, all factors must be shared with each woman to help her make her own informed decision. In order to maximize breast cancer outcomes, the health care community needs to assure that women have access to qualified experts who can help assess their risk for breast cancer. For high-risk women, experts concur that the benefits of screening with mammograms and MRI outweigh the risks.

Previvor Day: A Solemn Celebration

In searching for inspiration for this blog, I went back to the FORCE message boards to remember when and how the previvor movement began.  When I started FORCE, long before the organization and programs grew to the national influence that we are today, we were merely a message board, a way for people in similar situations to connect virtually. The Internet was new to me then, and the ability to reach out to virtual strangers remotely and receive comfort and guidance seemed novel and amazing. When I couldn’t find the support I needed in my immediate vicinity, I could reach out over the miles, type an SOS, and get instant wisdom, advice, and compassion. I could then draw from that support when and where I needed it (and back then I needed it a lot). Over the years many of these “strangers” have been my lifeline and many have become my dear friends. Fourteen years of survivorship later, I still periodically turn to my cyberfamily, but like many who have been part of our community for over a decade, time can sometimes softened the sharp edges of fear, loss, and grief that surrounded my diagnosis, recurrence, genetic testing, and surgeries and my accompanying need for support.

It has been a while since I revisited the archives of our website. With over 300,000 posts in our current database and over 300,000 archived posts, our message boards are the single largest repository of the hereditary cancer experience. These postings are a wealth of wisdom, support, kindness, grief, and gratitude. After 14 years of advocacy, it’s easy to focus on the challenges, the frustrations, and the problems we have yet to solve. So revisiting the past is healthy, and provides me with an opportunity to remember old friends and reflect on my growth and the growth of the organization.   Occasionally I will encounter a post that stops me in my tracks and reminds me of the sacred and transcendent segments of my own hereditary cancer journey and that of our members.

The last Wednesday in September has been designated as Previvor Day, and this year it happens to fall on Yom Kippur. The convergence of the two led me to two message board posts from over a decade ago that currently reside in our Pearls of Wisdom forum, where older timeless posts live so that others can revisit them when needed.

The first pearl addresses Previvor Day. In the “I need a label” thread, our dear “Jordan,” who was a regular on our message boards back then, articulated what many in our community were feeling—that although they did not have cancer, they had experienced decisions, losses, and procedures that separated them from average-risk women, but they did not have a cancer diagnosis. Jordan posted:

“Ok, I have to admit. I need a label. Do we have one? You know, those that have the gene but have not had cancer. The ones going through all this research and deciding on proph surgeries, or not. We need more of a voice and a label, a name. I’ve never been one hung up on labels before but a lot has changed for me since this process begun. I feel if we had a label we could begin to have more of a voice. What are your thoughts? FORCE? Breast Cancer __________ (fill in the blank).” 

Jordan, and the group of high-risk women who shared her concerns, recognized that they were cancer stakeholders who shouldered a heavy burden: ongoing doctor appointments; frequent biopsies and screenings; fear; loss of relatives to cancer, and sometimes loss of breasts, ovaries, and fertility; and changes in body image, all due to the risk of cancer. Jordan also felt that uniting the segment of the community that didn’t have cancer could promote more awareness, prevention, and surveillance research, and begin to fill their huge unmet need for support and resources.

A sometimes serious and sometimes silly discussion of how to address this gap, both online and off, followed. The medical community at the time used the term “unaffected carrier” for someone who carries a mutation but isn’t affected by cancer. But in addition to sounding dismissive, that label didn’t include members of our community who were very high risk by virtue of a strong family history of cancer without a mutation, LCIS, or high exposure to radiation. Yet these people were living with the same concerns, fears, decisions, and need for support as others in our community. Eventually “previvor” (for “survivor of a predisposition to cancer”) was chosen as our label of choice, because we all felt that those living with high risk are survivors in their own right. Not everyone embraced the term initially (and many still don’t), but for that moment, previvor resonated with many and filled a need that would allow our community to unite and advocate on issues surrounding cancer risk, detection, and prevention. These issues were separate from resources and research focused on treatment but equally important.

“AmiH,” a member of FORCE’s board of directors and our volunteer webmaster, observed “that the word ‘survivor’ comes from the Latin root meaning ‘to live’.” That connection also resonated with many previvors who felt that the knowledge of their risk and the management options available to them increased their chance to live longer, healthier lives. Not everyone wants or likes a label, and we totally understand that. Some particularly dislike “previvor,” and we get that too. But being able to identify and validate an important group of high-risk stakeholders has led to a revolution resulting in much more awareness, resources, research, and support today than we ever had in the past.

The second pearl comes from a thread started by ‘SusanZ’ [Ziva] shortly after Jordan’s. “My guardian angel, a Yom Kippur lament” is one of the most heartwrenching articulations of previvorship. It captures the devastation and impact of HBOC on entire families. I hope you will read the entire thread, but here are some of the most poignant excerpts:

“Tonight is Yom Kippur. It is certainly a day to reflect on one’s own life. In the past, I have done that in a synagogue. This year I am doing that by my sister’s hospital bedside watching her die from breast cancer. I wanted desperately to ask her to be my guardian angel from heaven…I didn’t have the courage to ask this of her yet…the reality is that in her death she remains true to how she lived, she has continued to be my guardian angel by getting genetic testing. I have found out I am BRCA positive in time to protect myself. In her death she has saved my life, and the lives of many family members.”

 In a later post, Ziva writes,

“Tomorrow afternoon I have an appointment with my second PS [plastic surgeon]… and if there is no significant change in my sister’s status, I plan to walk across the hospital to his office and make that appointment. As Linda leaves this world I am going to fight to stay.”

“I am overwhelmed by your responses…Yesterday I did what I said I would. I kissed her good-bye…and marched across the hospital in defiance of this disease and met my 2nd PS [plastic surgeon].”

 and then this last heart-breaking post,

“My sister, Linda, died this evening at 6:30 as the Sukkot holiday rolled in. I closed my eyes and again asked my sister to forgive all my insults and past hurts that occur between people who love intensely, and be my guardian angel. Your support on this website has been so important to me. You are the ones who can really understand.”

Ziva and her family have remained involved with FORCE as passionate volunteers over the ensuing years, providing guidance, outreach, and support to others. Last night, 12 years after her initial post, Ziva revisited her thread and added these thought-provoking words:

“Well, it is 12 years now since I lost Linda, and all the above is still relevant and true for me. An update: I now have a beautiful and delightful 20-month old granddaughter named Maya Linda! I think she has my sister Linda’s smile and sometimes I feel Linda (and my mother) watching over us with love and grace. Maya Linda brings me the kind of joy I found so difficult to feel since my sister’s death. This is such a blessing. 

I believe there is something quite spiritual in sharing one’s stories with others who listen with respect and compassion and then listening to others willing to share their stories. In this way we can feel connected, significant, and develop courage. Thank you FORCE family for listening and sharing. Our connection gives me hope and courage.”

Ziva, thank you on behalf of all of us. As always your words have captured the essence of our community and of FORCE. This uniting of the community impacted by HBOC—those with cancer and those without—was the goal almost 14 years ago when I founded FORCE: to connect us through our shared experiences, and despite our differences to bring each of us courage, support, and hope for today and future generations.

Happy Previvor Day.

Be empowered and be well.

Sue

13 Developments That Have Helped the HBOC Community

September marks Ovarian Cancer Awareness Month. And September 23-30 we will celebrate National Hereditary Breast and Ovarian Cancer Week! Follow us on twitter, Facebook, and our website to see what we are doing to celebrate and to share your celebration ideas with us!

In honor of this time of year and in keeping with our “13 Things” theme, it seemed appropriate to share my list of 13 developments that have helped our community. Feel free to share your own additions to our list.

1) Discovery of BRCA1 and BRCA2 and advances in gene sequencing
Long before the discovery of the BRCA genes, scientists knew there was a link between breast and ovarian cancer. Geneticist Mary-Claire King first identified the existence of the so-called “breast cancer” genes. Scientists isolated the BRCA1 gene in 1994 and the BRCA2 gene in 1995, leading to the development of a blood test to screen for mutations in these genes. In the past, women with a strong family history of breast and/or ovarian cancer had no way to determine whether or not they had inherited the predisposition to cancer that ran in their family. With genetic counseling and BRCA testing, women can learn more about their risk for breast and ovarian cancers and make more informed health care decisions.Further progress in research and clinical genetics has allowed us to better quantify people’s risk for cancer. BRCA testing has improved and more mutations can be detected in these genes than previously.

Other genes have been identified that can also increase the risk for breast and ovarian cancers, although most increase the risk to a lesser degree than BRCA. Ambry Genetics and University of Washington are examples of laboratories offering genetic panels for people who have breast and ovarian cancers but have no known BRCA mutation in the family. Other tests are in development.

2) FORCE founded as a resource to educate, support, and unite the hereditary cancer community
In 1999, Facing Our Risk of Cancer Empowered (FORCE) was established as a devoted resource for the hereditary cancer community. Our founding principle was that no one should face hereditary cancer alone. Our mission has remained constant: to improve the lives of people and families affected by Hereditary Breast and Ovarian Cancer (HBOC) Syndrome. Our programs provide support, education, awareness, research, and advocacy. In the 14½ years since our inception, FORCE has provided compassionate support and evidence-based information to thousands of hereditary cancer survivors and previvors through our many programs.

3) Genetic Information Nondiscrimination Act (GINA)
Prior to 2008, widespread fear of genetic discrimination kept many people from taking advantage of genetic tests that could make a significant difference in their health care decisions and outcomes. This fear also prevented many people from becoming involved in medical research. The Genetic Information Nondiscrimination Act (GINA) became law in 2008. GINA prohibits health insurance and employment discrimination on the basis of genetic information or a genetic test result. FORCE and researchers from The Ohio State University recently published findings from a survey of consumer knowledge and attitudes about GINA. The study indicated that many people who undergo genetic testing are unaware of GINA.

4) Targeted cancer therapy
Targeted cancer therapies treat disease by interfering with molecules involved in tumor growth and progression (called molecular targets). By focusing on molecular and cellular changes found in cancer cells, targeted cancer therapies may be more effective than other types of treatment and cause fewer side effects. Because these therapies may benefit only a subset of cancer patients, they are usually accompanied by tests to determine whether a person’s cancer cells express the appropriate target.

One of the first molecular targets identified for cancer therapy was the estrogen receptor (ER) expressed in many breast cancer tumors. The FDA has approved several drugs for the treatment of ER-positive breast cancer, including tamoxifen, a selective estrogen receptor modulator, and aromatase inhibitors including anastrazole, letrozole, and exemestane.

PARP inhibitors block an enzyme used by cells to repair damaged DNA. Research is ongoing to determine if PARP inhibitors may work against cancers in people with BRCA mutations, since their tumor cells already have problems repairing DNA. The medications are being tested in clinical trials, and are not yet FDA-approved for use outside of clinical research.Learning more about the molecular defects of specific tumors should help to clarify the role of therapies targeting these defects. More research is needed to determine which targeted therapies work best for which tumors.

5) Oncotype DX, Mammaprint and other treatment decision tests
Not too many years ago, all women diagnosed with invasive breast cancer received the same chemotherapy. Although it effectively treats cancer, chemotherapy has serious side effects, and not all treatments are equally effective for all people. With the development of OncotypeDX, Mammaprint, and similar treatment decision tests, oncologists can use molecular techniques that examine the biology of the tumor, help predict which tumors have the highest likelihood of recurring and which patients would benefit most or least from chemotherapy.  With Oncotype DX, studies have shown that for patients with lymph node-negative, ER-positive breast cancer, a low recurrence score argues against the use of chemotherapy and a high recurrence score argues strongly in favor of the need for chemotherapy. Before these tests were available, doctors knew that not all patients benefit from chemotherapy, but they had difficulty determining which patients needed more aggressive treatment. Using these tests oncologists can help spare women whose chance of recurrence is very low from aggressive chemotherapy.

6) Discovery of fallopian tube origins of many hereditary gynecologic cancers
Gynecologic oncologists had long believed that most ovarian cancers start in the ovarian epithelium, the cells lining the surface of the ovary. However, emerging research suggests that many so-called “ovarian” cancers in BRCA mutation carriers begin in the fimbria (the area closest to the ovary) of the fallopian tubes (the passage that connects the ovaries to the uterus). Since this theory was first proposed, several studies have supported this observation. Recognition of fallopian tubes as the site of many BRCA-associated ovarian cancers has led pathologists to pay more attention to the fallopian tubes removed during prophylactic surgery; catching some “occult” or hidden cancers that would have been otherwise missed. This has also led to the discovery of Tubal Intraepithelial Carcinoma (TIC), precancerous changes in the tubes. Further research is continuing to determine if we can develop better detection and prevention methods, including whether removal of the fallopian tubes might lower the risk for gynecologic cancers in mutation carriers who are not ready to prophylactically remove their ovaries. Removing the fallopian tubes alone is not currently an approved risk-reduction strategy.

7) Serial sectioning of ovaries and fallopian tubes
As more doctors began recommending prophylactic bilateral salpingo- oophorectomy (BSO) to prevent ovarian cancer in high-risk women, pathologists began to discover small, unsuspected, “hidden” cancers had often developed in the ovaries and tubes of women by the time they had surgery. Although tiny, some of these cancers were still aggressive and further surgery or treatment was recommended. If not discovered and therefore left untreated, these cancers could recur later. Researchers at University of California at San Francisco published their findings on a pathology protocol designed to find these hidden cancers by looking at many ultra-thin cross sections of the removed tissue. Previously, pathology procedures called for examination of only a few representative samples. Since this extensive “serial sectioning” became standard-of-care protocol for high-risk women who undergo bilateral salpingo-oophorectomy (BSO), more women are being diagnosed at early stages of fallopian or ovarian cancer, before the disease has spread and while it’s still curable.

8) Laparoscopic and minimally invasive BSO
In the past, removal of the ovaries and tubes was always performed through a large abdominal incision that allowed the surgeon to view the organs being removed. The invention of the laparoscope–a tiny camera on the end of a surgical tool that can be inserted through a small abdominal incision—allowed gynecologic surgeons to achieve a similar outcome with a smaller incision, less pain, and quicker healing. Generally, women who have prophylactic laparoscopic BSO can go home the same day. Abdominal surgery requires several days of hospitalization.

Although on occasion laparoscopic procedures are converted to full abdominal surgeries if there is a complication or excessive bleeding, or if the surgeon needs to see more of the abdominal cavity, for the most part, minimally invasive laparoscopic surgery is standard-of-care for prophylactic BSO. The development of robotic equipment has further improved a surgeon’s visibility of and access to abdominal organs, especially during more complicated surgeries to remove large or invasive tumors.In some cases gynecologic surgeons recommend hysterectomy (removal of the uterus) as well as BSO. This additional surgery can often be performed vaginally through another small incision at the time of the BSO.

9) Screening breast MRI
Women with BRCA mutations have a lifetime breast cancer risk as high as 85%. Their risk begins at a younger age than for sporadic breast cancer, when breast tissue is very dense and harder to image by mammography. In the past decade, researchers began studying whether magnetic resonance imaging (MRI) could be a more sensitive screening tool for breast cancer in high-risk women. Since 2004 several papers have consistently reported that breast MRI screenings of women with BRCA mutations find more early-stage cancers. Earlier detection increases the chance of successful treatment and long-term survival: this has also been shown in these studies. Annual MRI in now standard-of-care for breast cancer screening in women who are high-risk due to a mutation or a strong family history of cancer.

10) Mastectomy advances
Radical mastectomies were performed as standard treatment up until the 1970s. This disfiguring surgery removed all of the breast tissue, lymph nodes under the arm on the affected side, the muscle underneath the breast, and the nipple and areola, leaving only enough skin to close the incision. Lymphedema and long-term pain were common after radical mastectomies. Over the years, this procedure was replaced by less extensive and less invasive surgeries that do not compromise survival. Development of modified radical mastectomies, skin-sparing mastectomies, and nipple-sparing mastectomies has led to fewer complications, fewer long-term side effects, more aesthetic outcomes, and in some cases, retention of some sensation in the breast.

11) Sentinel lymph node biopsy
Sampling underarm lymph nodes of breast cancer patients allows doctors to determine if invasive disease has spread beyond the breast, and affects prognosis and treatment recommendations. Prior to sentinel node biopsies, women who were diagnosed with breast cancer faced axillary dissection—removal of multiple lymph nodes—to stage their cancer. Axillary dissection, however, increases the risk for lymphedema, painful and dangerous swelling of the arm. Sentinel lymph node biopsy (SLNB) allows surgeons to sample only one or a few lymph nodes that are most likely to contain any cancers cells that have spread beyond the breast. If the “sentinel” lymph node or nodes are free of cancer, most patients do not have additional nodes removed. Removal of fewer lymph nodes lowers the risk for lymphedema and improves quality of life in breast cancer survivors. A large study of 5,600 women published in 2010 confirmed the value of SLNB. It showed no difference in disease-free- or overall-survival between women who had negative sentinel nodes and received full axillary dissection compared to those who received sentinel biopsy alone.

12) Reconstruction advances
Reconstruction has evolved over the years, delivering more options for rebuilding natural-looking breasts after mastectomy with less extensive surgery. Doctors can move fat from the belly, thighs, or hips to reconstruct breasts. In the past, these tissue transfers required extensive loss of muscle. With the development of perforator flaps, the same outcomes are achieved while sparing muscles. Fat transfer can augment or rebuild breasts using liposuction and fat injection procedures.New silicone implants are softer and are believed to last longer than older implants. They may also be less likely to rupture, leak, and deflate. A new type of expander being studied allows women to control their own expansion process. Direct-to-implant surgery offers patients the opportunity to forgo expansion, reducing the overall reconstruction timeline with less discomfort.

13) Survival data on prophylactic oophorectomy
Women with BRCA mutations have a lifetime risk for ovarian cancer that is many times higher than women in the general population. Since the discovery of the BRCA genes, many research studies have documented the effectiveness of prophylactic mastectomy and oophorectomy for lowering risk in high-risk women. But until 2010 there was little published research to show that these surgeries improved survival for women with BRCA mutations. In 2010, researchers from the University of Pennsylvania published their research on behalf of a large international collaboration, following over 2000 women with BRCA mutations of whom about half chose to undergo one or more risk-reducing surgeries. The compelling results showed that risk-reducing surgeries significantly reduced cancer diagnoses, and that risk-reducing removal of ovaries lowered cancer-related and overall deaths.

13 Things That Jewish People Should Know About Hereditary Breast and Ovarian Cancer

Before I was diagnosed with breast cancer at age 33, cancer was not on my radar. Despite the fact that my paternal grandmother had died young of so-called “abdominal cancer,” none of my health care providers indicated that I might be at high risk for cancer. My health care team treated my diagnosis of young-onset breast cancer like a lightning bolt out of the sky. It wasn’t until after my initial treatment (a unilateral mastectomy) that I read a magazine article and learned of several significant red flags for an inherited BRCA mutation. After reading the article I became concerned that my cancer might be hereditary. The article talked about the link between young-onset breast cancer (like mine!) and ovarian cancer (which my grandmother likely had) and BRCA mutations. It also mentioned the relevance of a family’s health history on the paternal side (in my case the only cancer in my family was on my father’s side). No doctor had ever expressed interest in the cancer on my father’s side of the family. Perhaps the detail that was most surprising to me was the high prevalence of BRCA mutations in people of Easter European Jewish descent. All of the factors mentioned in the article which raised the suspicion of a mutation applied to my situation. Had I known this information before my mastectomy, I would have pursued genetic counseling and testing and made different surgical decisions at the time of my diagnosis.

Even now, 16 years after my diagnosis, as I give presentations on hereditary cancer, I still frequently meet Jewish people who have no idea of the high prevalence of BRCA mutations in this community. Most Jewish people are aware of the dangers of Tay-Sachs disease, another genetic disorder which is also prevalent in Jewish populations. Yet there are still many people who are Jewish and have a family history of cancer who have never heard of BRCA mutations and are unaware of the availability of genetic counseling and testing. Learning about BRCA   almost a year after my initial diagnosis of breast cancer was eye-opening. I learned the importance of people doing their own researching and advocating when it comes to health care decisions.

In keeping with our “13 Things” theme during 2012, I present my list of what Jewish people should know about hereditary breast and ovarian cancer, with the hope that this list will be spread far and wide beyond the FORCE community in order to save lives.

1. BRCA mutations have been found in people of every ethnicity. But people of Eastern European Jewish ancestry have the highest known incidence of BRCA mutations, and hereditary breast and ovarian cancer.
2. About 1 in 40 people of Jewish decent have a BRCA mutation, about 10-fold higher than other populations.
3. Women with a BRCA mutation have up to an 85% lifetime risk for breast cancer and a 50% lifetime risk for ovarian cancer.
4. About 40% of Jewish women with ovarian/fallopian tube cancer and 20% who have premenopausal breast cancer have a BRCA mutation.
5. BRCA mutations are associated with increased risk for several types of cancer, including breast (both male and female), ovarian, fallopian tube, primary peritoneal, pancreatic, melanoma, and prostate .
6. Each child of an affected parent has a 50% chance of inheriting a BRCA mutation.
7. BRCA mutations can be passed down equally from fathers or mothers to sons or daughters.
8. Beginning at age 40, men with BRCA mutations should discuss with their doctor the benefits, limitations and risks of prostate screening. Preliminary research suggests that prostate cancer in men with a BRCA mutation may be more aggressive than prostate cancer in men who do not have a BRCA mutation. Men with BRCA mutations are at risk for melanoma, male breast and pancreatic cancer as well.
9. People who test positive for a BRCA mutation have options to lower their risk for cancer or detect it at an earlier, more treatable stage.
10. The majority of BRCA mutations in Jewish people occur in one of three genetic sites. Genetic testing usually begins with a Multisite 3 panel that looks for these common mutations and is less expensive than full BRCA testing.
11. In couples where both individuals have a BRCA2 mutation, it is possible for children to inherit a rare and deadly disease known as Fanconi Anemia, which is more common in people of Jewish descent. Couples concerned about this possibility should consult with a genetics expert.
12. Genetic testing for BRCA is performed from a blood sample or cheek swab.  The test itself is simple, but it is not always straightforward. Consulting with a genetic counselor is the best way to assure the correct test is ordered, results are properly interpreted and an appropriate course of action is discussed.
13. The majority of people who have a BRCA mutation or a family history of cancer are unaware of their increased risk for hereditary cancer.  Awareness is critical to saving lives.

Visit our website for more information about genetic counseling and testing. Visit our FORCE in the Jewish Community page to watch our video and learn about ways you can help raise awareness about BRCA in Jewish people.