22/01/2022
Chris Evert tweeted recently that she had been diagnosed with early-stage (Stage 1C) ovarian cancer, which is associated with an outstanding survival rate. This news is especially good because most people diagnosed with ovarian cancer are diagnosed at stage III or IV, which are associated with poor survival rates. Apart from the favourable prognosis for Chris Evert, it is the story behind the story that the medical world should be listening to with care.
In February 2020, Chris’s younger sister, Jeanne Evert Dubin, died of ovarian cancer at age 62. Before her death, Jeanne had genetic testing, but was not found to have a pathogenic, or disease-causing mutation in the BRCA1 or BRCA2 genes and perhaps the other genes known to be associated with an increased risk of ovarian cancer (there are many such genes – BRCA1 and BRCA2 are only two of them). However, Jeanne was reported to have a “variant of uncertain significance” (VUS) in BRCA1.
Those of us familiar with genetic testing see VUS results frequently. These variants are differences in the genetic code with uncertain meaning. When we see a VUS we tell patients that they should not act on that genetic difference alone, and that their family members should not be tested for the VUS since we don’t know what it means. Instead, medical care should be based on medical and family history.
Sometimes a VUS is later reclassified, or re-categorized, by the laboratory when new data become available and the meaning of the genetic variant is better understood. Most of the time, the reclassification of a VUS is a downgrade to a benign result. This is why it’s important that healthcare providers do not advise patients to act on VUS or for relatives to be tested for it- because a VUS is often found to be harmless later. But in some cases, a VUS is reclassified as pathogenic, or disease-causing. In the case of Jeanne Evert Dubin, the VUS was reclassified as pathogenic four years after her diagnosis and approximately twenty months after her death.
Upon reclassification, most labs send or fax an updated report to the physician who ordered the original genetic testing. But how often does the physician receive that update, read and understand it, and recontact the family with that new information? What happens if the patient has died of her disease in the interim? Does this critical, potentially life-saving information reach other family members who could also have the pathogenic variant?
In Chris Evert’s situation, it did. She apparently learned of the reclassification in late October, was offered genetic testing, found that she had the same pathogenic genetic variant, and chose to have her uterus and ovaries removed ‘preventively’ in December. But when her tissue was sent to pathology, they found that, in fact, Chris already had ovarian cancer. Luckily for her and her family, the tumour was stage 1C, meaning that she has a very favourable prognosis.
Chris Evert's sister died of ovarian cancer in 2020. Her genetic test results did not reveal a mutation — but that changed, saving Chris' life.
