Ovarian Cancer & Genetic Testing
- In an essay for ESPN, tennis star Chris Evert reflected on her family’s journey with ovarian cancer, which was related to the BRCA gene mutation.
- Evert's cancer was first detected in early December 2021, when she had a preventative hysterectomy. She had her first of six rounds of chemotherapy in January 2022.
- Ovarian cancer has been called "the cancer that whispers," due to its hard-to-detect symptoms. Ovarian cancer symptoms may include: a feeling of fullness or decreased appetite, feeling bloated, changes in bowel habits, pelvic pain, urinary symptoms, fatigue, abdominal swelling, and pain during intercourse.
- Presence of the BRCA1 or BRCA2 gene mutations elevates a person’s risk of breast and ovarian cancers.
Read More“Today, I’m cancer-free, and there’s a 90% chance that the ovarian cancer will never come back.” – Chris Evert
Chris Evert's Ovarian Cancer Journey
Evert's cancer was first detected in early December 2021 when she had a preventative hysterectomy. She had her first of six rounds of chemotherapy in January 2022. Ovarian cancer has been called "the cancer that whispers," due to its hard-to-detect symptoms. Dr. Beth Karlan, a gynecologic oncologist at UCLA Medical Center, explains in an earlier interview, "What we've found from multiple studies, it's this constellation of symptoms," she said.Dr. Karlan explains, "If that's really happening and you're experiencing it every day, and they seem to be crescendo-ing, getting worse, even if that goes on for only two weeks, you should call your doctor."
Ovarian cancer symptoms may include: a feeling of fullness or decreased appetite, feeling bloated, changes in bowel habits, pelvic pain, urinary symptoms, fatigue, abdominal swelling, and pain during intercourse.
Evert writes how she got a call saying that doctors had reclassified her sister’s BRCA variant. She says, “the significance was no longer uncertain, it was now very clearly pathogenic, and we should be tested. I was shocked, I didn’t even know that was possible.”
She continues, “Within days I had a simple blood test that confirmed I had the same BRCA-1 variant Jeanne did. I immediately scheduled a preventative hysterectomy. But when my pathology report came back, my doctors and I were stunned to find that I had malignant cells and a tumor in my left fallopian tube.”
Ovarian Cancer: The Cancer That Whispers
Understanding BRCA Mutations & The Importance of Genetic Testing
Evert credits the “genetic road map” her sister Jeanne left behind, as well as “scientific progress” for the reasons her cancer was detected early. It was found “early enough to do something about it,” she writes.
She reflects on how the genetic road map meant earlier intervention. Evert writes, “My doctor said if left undiscovered, in four months’ time, I would probably have been Stage 3 like Jeanne, with very few options.” Thankfully, Evert’s cancer was diagnosed at stage 1, at which point she “immediately began six rounds of chemotherapy.”
She writes triumphantly, “Today, I’m cancer-free, and there’s a 90% chance that the ovarian cancer will never come back.” She continues to say that she’s sharing her story as she’s recovering from chemo and rebuilding her strength.” Evert notes how BRCA mutations are associated with an elevated risk of breast cancer (along with prostate and pancreatic cancers).
In December, 2022, Evert had a double mastectomy, which greatly reduced her chances of developing the disease. Evert writes that medical choices are deeply personal. She says, “When it comes to deciding between surveillance or surgery, everyone’s choice is personal. The most important thing is not to leave things to chance. Of the 25 million women and men worldwide who have a BRCA mutation, only 10% know they are carriers. When I talk to people about genetic testing, so many people say, ‘It’s too scary to know.’ I’m here to tell you, it’s scarier not to.”
Evert says she has another reconstruction surgery to do, following the mastectomy.
In an earlier interview with SurvivorNet, Dr. Rebecca Arend, an Associate Scientist at the University of Alabama-Birmingham, explains the BRCA mutations. "What a BRCA mutation is is it's a defect in your ability to repair a double-strand break. If you think about DNA being a double helix, that we've all learned about in basic science, if you have a single-strand break, a PARP enzyme is needed to repair that single-strand break. If you have a PARP inhibitor, then you can't repair that single-strand break," she says.
Dr. Arend continues, "And if you have a single-strand break that's not repaired, that actually leads to a double-strand break. So when both of the arms of the DNA helix are broken, then your body has normal mechanisms for repairing that. One of them is called homologous recombination."
She explains how this is the body's normal way of repairing a break. "But if you have a BRCA mutation, you actually cannot repair that break."
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