Fighting Cancer Before I Have It

As a previvor — someone with a confirmed genetic risk of cancer — I’m hoping for the best but preparing for the worst

Elizabeth Reyes

Feb 25, 2019·5 min read

“Previvor” is one of those words I’d never heard of until I was suddenly thrust into being one myself. I suppose I have technically been a previvor all my life, but I didn’t know it until a genetic test, fueled by anxiety over my family history of cancer, revealed the truth.

Previvor: A portmanteau of the prefix “pre-” and “survivor”
Previvor: Someone with a genetic risk factor for cancer who has not yet been diagnosed with cancer.

Previvors include a wide swath of people, and you may be one without knowing it. Among the first to really claim the previvor title are the many women (and men) diagnosed with a BRCA mutation. This DNA variation, thanks to celebrity advocates like Angelina Jolie, is known to cause an increased risk of not only breast and ovarian cancer, but also prostate cancer and pancreatic cancer, among others. Though all people can be at risk for these cancers, men remain less likely to get tested for the mutation.

Of course, BRCA is far from the only high-risk cancer gene. In fact, there are a wide variety of Hereditary Cancer Syndromes (HCS):

Though we have not identified genetic causes for all types of cancer, we do know several gene changes, or mutations, that can be passed down from parent to child and increase a person’s risk of developing the disease. These changes are known as hereditary cancer syndromes.

— MD Anderson Cancer Center

Almost all of us diagnosed with an HCS come to the world of previvorship with a cloud over our heads. Because of our shared genetic inheritance, we’ve likely seen many of our family members grapple with cancer treatment and even succumb to the disease.

I have lost two grandfathers, my grandmother, an aunt, several more distant relatives, and my father to cancer. I used to joke that I knew I would die from cancer—it was only a matter of when. (This was not a very funny joke, I admit.) The cloud of cancer looming over my life was what finally compelled me to get tested. I was tired of feeling anxious every time I felt pain. “Normal” people (if they exist) don’t immediately assume a tumor is growing whenever they have back or abdominal pain, but I did.

Because both my grandfathers died of prostate cancer and my grandmother died of ovarian cancer, I was able to make a case that I should be tested for the BRCA gene, currently the only hereditary cancer syndrome required to be covered by insurance under the Affordable Care Act. The genetic counselor I saw suggested a DNA blood test that also included a few additional highest risk HCS genes. This fell under the same umbrella as the BRCA testing, so my insurance covered it — and I am incredibly grateful it did. Had the test only covered BRCA, it would have come back negative and given me a false sense of security about my cancer risk.

I have an HCS, but I do not have a BRCA gene mutation. Instead, I have an issue with my EPCAM gene, which is associated with a family of genetic variations that fall under the heading of Lynch syndrome (also known as hereditary nonpolyposis colon cancer).

Hereditary colon cancer? I never would have guessed, and never would have even thought to be tested because no one in my family has ever been diagnosed with colon cancer. This is despite the fact that the gene mutation gives an up to 80 percent lifetime risk of colorectal cancer diagnosis. It also increases our risk of endometrial cancer and ovarian cancer. I’m fairly certain that, along with some rose floral china and a costume jewelry ring inlaid with faux emeralds, I inherited this from my grandmother.

I live in the in-between of previvorship: hoping for the best, but preparing for the worst.

But it doesn’t stop there. Because EPCAM and other Lynch syndrome genes are associated with epithelial repair — those cells that line almost all your organs and also make up your skin—people with this mutation are also at risk for cancers of the stomach, small bowel, kidney, bladder, pancreatic; sebaceous skin cancers; and a slightly increased risk for the deadliest kind of brain cancer, glioblastoma.

Like all previvors, regardless of which hereditary cancer syndrome their genes cause, diagnosis requires increased vigilance. For me, this means regular colonoscopies, upper endoscopies, endometrial biopsies, pelvic ultrasounds, urinalyses, and skin checks. Like my fellow previvors with BRCA, this also can mean prophylactic surgery. My doctor has highly recommended that I get a hysterectomy by 40, or at the completion of child-bearing, whichever is sooner.

As a single woman in my thirties without children, making the decision of when to get a hysterectomy is especially daunting. If I wait for a spouse and children before pulling the trigger, will I be increasing my risk of cancer? And if I were to try to have biological children, because Lynch syndrome is autosomal dominant, they would have a 50 percent chance of inheriting my genetic material.

Because of its heritability, previvorship is a family affair. I brought my mom along to my genetic counseling appointment when my results came in, and she was able to get tested the same day. She, unsurprisingly, was the parent who passed the gene on to me. My sister also got tested and came back positive. This makes for interesting family get-togethers. We can avoid the touchy subjects of politics and religion at Thanksgiving because we are instead swapping stories about colonoscopies.

My younger brother and my mother’s siblings have not yet been tested, and they may not want to be. Though I firmly believe knowledge is power, the decision to get tested is an individual one. For many, the anxiety associated with testing positive might be greater than the anxiety of not knowing.

For many others who want to know their status, genetic testing is inaccessible. I’d been considering genetic testing for years before finally taking the leap. Learning that BRCA testing was covered by my insurance was what finally convinced me to do it. Had I not had some family history of cancers potentially associated with BRCA, I would’ve likely never looked into it.

Given my high risk for cancer, I’m incredibly grateful that I was able to have affordable access to testing. I have regular screenings to hopefully prevent cancer or catch it early. If you’re self-aware, hereditary cancer syndromes need not be a death sentence.

My bad joke may yet turn out to be true. I may still die from cancer. For now, I live in the in-between of previvorship: hoping for the best, but preparing for the worst.

What can you do to help previvors? Support legislation to require insurance coverage for all high-risk cancer genes, not just BRCA. If you have a strong family history of cancer, especially rare cancers and/or cancer diagnosed in young adulthood, ask your physician about getting tested. Regular screening and prophylactic surgery can save lives.