A Guide to Supporting Individuals and Families Affected by Hereditary Cancers

Choices: Her Body, Her Future

Emmy-nominated director and producer Joanna Rudnick interviewed Mary-Claire King, the scientist who discovered the BRCA 1 mutation, in her documentary film In the Family. Dr. King compared the psychological state of individuals with a known genetic predisposition to cancer to that of cancer survivors, explaining that such knowledge may come with persistent, ongoing fears of a diagnosis. FORCE coined the term previvor in 2000 to capture the “unique needs and concerns” of high-risk individuals that are distinct from the general population, “but different from those already diagnosed with cancer.”

Some of these concerns include decisions on risk-reducing prophylactic surgeries, such as prophylactic bilateral mastectomy (PBM) and bilateral salpingo-oophorectomy (BSO). While considered extreme by some, the reduction in risk is significant: it produces at least a 50 percent reduction in risk for breast cancer and up to 96 percent reduction for ovarian cancer in BRCA individuals. What’s more, according to the NIH, “Hereditary breast cancers tend to develop earlier in life than noninherited (sporadic) cases, and new (primary) tumors are more likely to develop in both breasts.”

As cancers due to inherited genetic mutations are associated with more aggressive forms of the disease and a younger age of onset, these surgical options can be life-saving. Such procedures are not without consequences, however. There are significant physical and psychological ramifications that require careful consideration and planning, especially with regard to dating, sex, marriage, childbearing, and menopause. Seeking the support of a genetic counselor or other trusted medical professional is vital.

Briana described her thinking with regards to prophylactic risk-reducing surgery:

Before I even got tested when I was 21, I knew that if it came back positive I would undergo the surgery. I would undergo any recommended procedure (within reason) to save myself from the sickness and death of my mother that I witnessed as a child.

Even with such a clear mindset, Briana was overwhelmed with the reality of her situation and the decisions with which she was faced when she learned of her risk in 2012. She found support in the FORCE community while still in college, and when she returned from the Peace Corps in 2016, she attended the Joining Forces Conference in Orlando. This led to her decision to have a prophylactic bilateral mastectomy (PBM) in 2017. FORCE connected her with the knowledge, emotional support, and financial resources she needed. She shared,

I had been told that doctors wouldn’t perform a PBM until I turned 25. As soon as I turned 25 this switch flipped in my mind, and I felt like I was a ticking time bomb. Any pain or bump sent me into a panic. But, I was in Panama with the Peace Corps at the time and wanted to finish that experience. 

When I was 26 I came back to the US and got a good job with private insurance … [I] waited as long as I could to save up some money and find the right doctors to do the procedure.

About how her cancer risk felt post-mastectomy, Briana shared,

After the PBM, a great weight lifted from me. I didn’t even know how heavy the burden had gotten. I wondered what it would be like to never carry this weight. If the PBM provided that much of a relief, how much more relief could I feel if I never had to deal with any of this again? 

Briana spoke to a doctor about her ovarian cancer risk at the most recent Joining Forces conference in San Diego in 2018, who recommended that she begin thinking about ovarian cancer prophylactic surgery. This typically involves a bilateral salpingo-oophorectomy (BSO), the removal of the ovaries and fallopian tubes. Briana reflected on the dilemma this presents, especially for young women:

My mom was diagnosed with ovarian cancer at 43, and with cancer diagnosis occurring about a decade sooner for young women than the previous generation, it’s on my mind. I’ll turn 33 in less than five years, and it’s hard to think that I could have to decide about the future of my health over having kids.

Navigating Hereditary Cancer Syndrome in the Midst of the Pandemic

Covid-19 has placed a burden on our healthcare system, presenting significant challenges for cancer patients receiving treatment or in the midst of diagnosis as well as those at high-risk for the disease.

The American Society of Clinical Oncology (ASCO) put out a special report in May: A Guide to Cancer Care Delivery During the Pandemic describing how oncology practices can protect the safety of patients and healthcare staff in the midst of Covid-19. They have also compiled disease-specific resources providing guidance on the care of individuals fighting different kinds of cancer with age-related considerations for geriatric and pediatric cancer patients.

The pandemic has obligated cancer patients and oncology medical staff to take risks entering hospitals and other clinical care settings in the course of their treatment and daily work. For some, like 19-year-old pancreatic cancer survivor Bella Graham, going to places like the grocery store presents a risk. Encountering community members not taking recommendations seriously or objecting to the precautions she takes for herself in public has been frustrating, creating more fear. In an article published on the Pancreatic Cancer Action Network website, Bella said

We have to be community-minded … The only way we beat COVID-19 is if we care about people who are not in our family, who are not our friends, who we don’t know. It may not be your mom or your kid, but it’s somebody’s mom. It’s somebody’s kid.

In addition to these stressors, newly diagnosed patients, survivors, and individuals at high-risk may have had to postpone diagnosis and staging or screening and surveillance measures during the quarantine. The “related cancers” associated with HBOC (hereditary breast, ovarian, and related cancer syndrome) include fallopian tube, peritoneal, and pancreatic cancer, and in some cases colorectal and melanoma. Men with BRCA 1 are also at a heightened risk for breast as well as prostate cancer. What this adds up to is an increased need for support services and resources to navigate cancer treatment, prevention, and surveillance in the time of coronavirus.

As in the case of so many of our school, work, and personal activities, Briana shared that the last two quarterly FORCE meetings scheduled in Portland have been canceled due to Covid-19.

In the meantime, FORCE has been working hard to find the best solution for providing a secure meeting space to support members of the hereditary cancer community. They have developed a virtual meeting program that will be used to hold the upcoming meetings in Portland. Acknowledging that they don’t know when it will be safe to hold in-person meetings again, Briana emphasized the importance of staying connected: “It’s really important to provide people with resources to help them make medical decisions … I wouldn’t want people to go through this alone.”

As mentioned above, Briana was clear that this includes all individuals going through or at risk for hereditary cancer. Since the Supreme Court ruled against the patenting of genes in 2013, many more genes linked to hereditary cancer have been found in addition to BRCA 1 and 2, the most studied to date. And in the burgeoning era of population genomics, this trend is likely to continue.

Mutations with national medical guidelines for care include BRCA 1 & 2; MLH1, MSH2, MSH6, PMS2, and EPCAM (Lynch Syndrome); PALB2; ATM; CHEK2; PTEN (Cowden Syndrome); TP53 (Li-Fraumeni); CDH1; STK11 (Peutz-Jeghers Syndrome); NF1; NBN; BRIP1; RAD51C; and RAD51D.

Those without national medical guidelines for care due to lack of research include BARD1; FANCC; MRE11A; RAD50; REQL4; RET1; RINT1; SLX4; SMARCA; and XRCC2.

And still, despite these scientific advancements, there are many individuals out there from “mystery” families with strong histories of the disease but no known genetic link as of yet.