Genetic Testing Saved One Breast Cancer Patient's Life
- Nora Khrone went in for a routine mammogram after her husband noticed a lump in her breast and learned she had invasive ductal carcinoma, which she planned to remove with a lumpectomy.
- Genetic testing revealed that part of the cancer was triple-negative and the other part was HER2-positive, meaning that instead of a simple lumpectomy Khrone would require both chemotherapy and targeted therapy.
- Genetic testing can help predict an individual's cancer risk by looking at inherited gene mutations, and the results can provide life-saving information for some patients.
Nora Khrone went in for a routine mammogram after her husband noticed a lump in her breast. That test confirmed that she did in fact have invasive ductal carcinoma, a form of breast cancer that often presents as a tumor and has a high survival rate when caught in the early stages.
Read MoreIn the end, Khrone opted to have a bilateral mastectomy and had her ovaries removed because the mutation also put her at high risk for ovarian cancer.
“I like being flat and fabulous. I figure I started out in this world flat-chested, so why not end it flat-chested?” wrote Khrione in a post recapping her experience.
“Even my husband is onboard. He told me once while I was still in treatment that after I healed, we could chest bump.”
Why Genetic Testing Matters in Breast Cancer Patients
Genetic testing can help predict an individual's cancer risk by looking at inherited gene mutations. These results can provide potentially life-saving information for patients who test positive for known mutations and who then can undergo preventative screenings and treatments for cancer.
"When I got my diagnosis, I was trying to find first-person narratives about BRCA on the internet,” Erika Stallings, a carrier of the BRCA2 mutation and breast cancer previvor, previously told SurvivorNet. “And I found some, but there weren't that many written by women of color. I knew from a statistical standpoint I could not be the only black person who's ever had BRCA."
Stallings underwent a double mastectomy at NYU Langone Health’s Perlmutter Cancer Center as a preventative measure. The BRCA2 mutation increases the risk of women getting breast cancer to 45-65% before the age of 70, according to the National Breast Cancer Foundation. After her treatment, Stallings took the initiative to be an advocate for genetic testing for women of color.
She reflected on her own experiences: "I always tell people I feel like I had the best experience someone going through this could. I had a white-collar job that was flexible; I had a really great treatment team at NYU; I had money. I experienced this thing as a very privileged person."
However, not every patient has access to or even knows about genetic testing as a preventative measure against breast cancer. Black women on average have 16 times lower referral rates to get genetic testing even if they fit all of the criteria under the federal guidelines, according to Stallings.
As a result, Stallings’ work ties closely with her personal experiences and raises awareness about breast cancer family history by educating minority communities.
"I have tried to build a relationship with oncologists and genetic counselors at NYU to do events where we go out into the African American community or we try to find African American women and start a conversation," she said. "It sort of just starts a dialogue in that community. You get people thinking about, oh, I have a mom who had cancer and a grandmother and an aunt… Maybe I am someone who should get referred to genetic counseling."
Contributing: Sophia Li
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