Face Your Risk of Hereditary Breast and Ovarian Cancer Empowered

I wish someone had told me about genetic mutations and cancer risk in 2003 when, in my mid-30s, I was first diagnosed with breast cancer. Even though women diagnosed with breast cancer at younger ages are more likely to have a genetic mutation, after combing through every scrap of paper I collected during that time, I did not find a single word about genetic testing or hereditary breast cancer. There must have been something written about it, but it didn’t cross my path. There was very little information about, or for, Black women who were diagnosed with breast cancer under age 40. As it turned out, I had one of those genetic mutations. And just recently, a study in The New England Journal of Medicine reported that mutations in a gene called PALB2 were found to raise the risk of breast cancer in women by almost as much as mutations in BRCA1 and BRCA2.

In 2011, the National Comprehensive Cancer Network presented guidelines advising that all women diagnosed with breast cancer prior to age 50 be referred for further risk assessment, genetic counseling, and possibly genetic testing – something I wish had been discussed and offered to me eleven years ago. If it had, things might have turned out differently. Perhaps I would have avoided being diagnosed with a second aggressive breast cancer in 2009. Genetic mutations impact screening and treatment decisions as well as outcomes. For instance, radiation exposure significantly increases breast cancer risk for people who carry BRCA mutations compared to those who do not. BRCA status may impact sensitivity to chemotherapy, and it changes recurrence risk, impacting surgical options such as breast conserving surgeries, prophylactic (preventive) mastectomy, and oophorectomy (removal of the ovaries).

Despite the importance of BRCA status for younger women diagnosed with breast cancer, there are still major barriers to getting genetic counseling and risk assessment, especially for Black women. Beth Anderson and colleagues identified 500 women through the Michigan Cancer Surveillance Program registry and their health care provider, who were diagnosed with breast cancer from 2006 to 2007 (all under age 50). They wanted to find out what facilitated access to genetic counseling and risk assessment, and what impeded it. Of the 289 women who completed the survey, 24 identified as Black and only five of these women received genetic counseling. Either no one recommended it, or insurance didn’t cover it. The women who did receive genetic counseling and risk assessment had insurance coverage and/or sought the counseling to benefit their families.

Using the Florida Cancer Registry, a study by Tuya Pal and colleagues recruited 144 Black women age 50 and younger who were diagnosed with invasive breast cancer from 2009 to 2012. The researchers evaluated two areas: first, the prevalence of BRCA mutations detected through full gene sequencing and large rearrangements testing (a way to increase the ability to detect BRCA mutations) and second, the number of Black women who accessed genetic services prior to enrolling in the study. While all of the participants met national criteria for receiving a referral for cancer genetic risk assessment, only 42 percent were referred for genetic counseling or had genetic testing prior to participating in the study, and only 14 percent actually received genetic counseling. These studies suggest that there is a gap in Black women’s access to genetic counseling: Black women rarely receive the referrals and when they do, they do not necessarily have the resources to follow up. These findings support the need for additional efforts to increase and improve access for Black women. Fortunately, the study itself is part of a solution in that those who participated did receive complete genetic counseling.

When I received my second breast cancer diagnosis in 2009, I was referred to the Yale Cancer Genetic Counseling Program to participate in a study that included genetic testing. I was fortunate that my insurance covered the cost of the test. For women of low socio-economic status a lack of comprehensive insurance coverage could easily be the limiting factor in access to genetic testing. The results of the Yale study have not yet been reported, but I follow the work of the program via website. This is where I learned about gene mutations beyond BRCA1 and BRCA2 that are associated with breast and ovarian cancer. These genetic mutations (including ATM, CHEK2, PALB2, PTEN, and P53) have been implicated in a range of cancer risks as well as the aggressive forms of breast cancer frequently found in Black women.

In 2013 at the Annual Conference of the American Society of Clinical Oncology, Dr. Jane E. Churpek of the University of Chicago presented new research that suggested genetic mutations may be responsible for more breast cancer cases in Black women than previously known. It is well documented that Black women, are disproportionately affected by early-onset and triple-negative breast cancer with higher mortality rates than their white counter parts. Yet she reported that this was the first comprehensive analysis of known breast cancer susceptibility genes in an all-Black cohort, with mutations being most prevalent in women with early-onset disease, triple-negative disease, or a family history of breast, ovarian, or pancreatic cancer.

The 8th Annual Joining FORCEs Conference

Talking with a representative from Sisters Network

Talking with a representative from Sisters Network

Wanting to learn more about hereditary cancers, I attended the 8th Annual Joining FORCEs Conference (June 12-14, 2014) in Philadelphia, PA. FORCE (Facing Our Risk of Cancer Empowered) is the only national non-profit organization focused on hereditary breast and ovarian cancers. The group was founded in 1999 on the premise that no one should face these cancers alone. Hence, this year’s Joining FORCEs Conference hosted over 800 attendees including cancer survivors, “previvors” (i.e., a term coined in 2000 for the survivor of a predisposition to cancer who has not had the disease), and supporters.

The participants (mostly women, but with a visible representation of men) were highly engaged in the six concurrent sessions offered over the course of the conference. I list them here to give readers a sense of the depth and breadth of informational topics covered.

Concurrent Session I:

Concurrent Session II

Concurrent Session III

Concurrent Session IV

Concurrent Session V

Concurrent Session VI

Disclaimer: Health links and health information are made available for educational purposes only. This information should not be interpreted as medical advice. All health information should be discussed with your health care provider.

Outside of the concurrent sessions, there were several special events that left a lasting impression on me. The first was the “Show and Tell,” an evening event where women shared and showed the results of their mastectomy surgeries – the good, the bad, the beautiful, and the ugly. This was a space for survivors and previvors contemplating mastectomy to talk to each other, ask questions, and speak to women who already had the surgeries. Women also had a chance to speak with surgeons who perform these types of surgeries, including those who have repaired, fixed, and fine-tuned surgeries gone wrong. The stories I heard and the visuals were profound, particularly from those who shared “the bad and the ugly.”

We also viewed the film Decoding Annie Parkerand had a post film Q&A and discussion with Ms. Parker. This recent film tells the story of two women; Annie Parker, a three time cancer survivor and the geneticist Mary-Claire King whose discovery of the breast cancer BRCA gene mutation is considered one of the most important discoveries of the 20th century. Despite the visible scientific advancements portrayed in the film, it also revealed a struggle for research dollars and the co-optation of research (and research subjects) that can happen in the race for gene patents, genetic material, and scientific success stories. The film’s depiction of denial among family members who did not want to consider hereditary factors even when one of their own had a genetic mutation found to increase risk substantially felt very real.

Spit for Science.  Participated in BRCA study.

Spit for Science. Participated in BRCA study.

When I was browsing the exhibit hall, I had the opportunity to take part in a “spit for science.” The Basser Research Center for BRCA at the University of Pennsylvania’s Abramson Cancer Center had a booth set up where research staff collected DNA saliva samples for a research registry. Yes, I spit into a test tube and got a t-shirt! I was happy to do it. These samples will be used to research genetic cancer risk, increase understanding of the biology of BRCA cancers, and enhance the development of new technologies aimed at improving diagnosis, treatment, and novel therapeutic strategies.

In the process of giving my own medical history for the research registry, I was reminded of how vital it is for Black women to participate and research studies and clinical trials. We are underrepresented when it comes to access to genetic information and services. From my own cancer experience, I know first hand how important that information can be. There are many unmet needs in this community, so I am glad to report that FORCE and researchers from the University of South Florida have partnered with the Black Women’s Health Imperative and Sisters Network to promote patient centered outcomes that include the unique concerns and perspectives of Black women.

My ongoing work with The Pink and The Black Project©will support these endeavors by sharing informational outcomes regarding Black women, cancer, and genetics. You too can help spread the word about genetic testing for hereditary breast and ovarian cancer in communities of color. Knowledge is power, be an advocate for your own body and help others in the process. Be a formidable force.

Related:

Patients, Patents, and Profits in a Genomic Ageby Gayle Sulik, Psychology Today, Apr. 23, 2013.


Annette Madlock Gatison, Associate Professor, Southern Connecticut State University

Dr. Annette Madlock Gatison is an Associate Professor in the department of Communications at Southern Connecticut State University. She completed doctoral work in Intercultural Communication and Rhetoric at Howard University in Washington, DC in 2007; her dissertation is entitled, “A Kwanzaa Idea as Religious Space: A Rhetoric of Resistance.” She is also a former Howard University Preparing Future Faculty Fellow. While attending Bethel College (now University) in St. Paul, MN, she earned a Master’s degree in Communication Studies, a Bachelor’s degree in Organizational Studies, and a certificate in Post-Secondary Teaching. Dr. Madlock Gatison is a former National Women’s Studies Association and Spelman College 2009 Leadership Institute fellow. She has presented over 20 papers at national and international conferences. She published “Body Politics- Strategies for Inclusiveness: A Case Study of the National Breast Cancer Coalition” in Contexts of the Darkside of Communication (Lang Publishing, 2015) and “Playing the Game Communicative Practices for Negotiating Politics and Preparing for Tenure” in the edited volume, Still Searching for Our Mother’s Garden (Niles and Gordon, 2011). She has also published in multiple encyclopedias, including Encyclopedia of Health Communication, Encyclopedia of Cancer and Society; Sage Deaf Studies Encyclopedia, Multimedia Encyclopedia of Women in Today’s World; and The Encyclopedia of Identity. Dr. Madlock Gatison’s current research, The Pink and The Black Project® focuses on the negotiation of identity and the spiral of silence as it relates to women’s health and the communicative practices of breast cancer survivors and their family and friends.


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