A genetic test revealed that my story with breast cancer had been written way before I was born.
The test results were unexpected. I nearly collapsed the day I found out that in addition to having breast cancer, I had a high hereditary susceptibility to ovarian cancer. It was a nasty surprise. I didn’t fit the profile of someone who would typically have genetic mutations associated with breast cancer.
My family history did not offer any clues. As far as I knew, I didn’t have any ancestors who were Ashkenazi Jews, Eastern Europeans who have a higher propensity to develop mutations linked to breast and ovarian cancer, according to medical studies. Colon cancer slowly killed my paternal uncle and my paternal grandfather died of complications from a rare form of melanoma, but none of my close relatives had been diagnosed with any other cancers.
“You have BRCA2 (Breast Cancer 2) mutations,” said Dr. Tihesha Wilson, of Mercy Hospital in Coconut Grove. Researchers have identified more than 800 mutations in the BRCA2 gene.
No other company provides this test in the U.S. After scientists discovered the gene in 1994, Myriad faced criticism from health advocates and physicians for allegedly discouraging scientific research by attempting to patent a natural occurrence that was not, as defined by the courts, “a product of human ingenuity.’’ In 2011, a federal appeals court ruled in favor of Myriad, and allowed the company to patent the BRCA1 and BRCA2 genes on the grounds that the “isolated DNA’’ does “not exist in nature.’’
According to my Myriad BRCA2 sequencing test, there were two inherited “germlines” deemed “deleterious.” This was likely preventing proteins from fixing my damaged DNA properly. The genetic mutation is unchangeable.
“This means you have an increased risk for developing another cancer,” Wilson said.
Although scientists have not agreed upon the exact risk of the mutations, studies Myriad cites indicate that in a lifetime the BRCA2 mutation may confer as much as an 84 percent risk of breast cancer, a 27 percent risk of ovarian cancer, a 12 percent risk of a second breast cancer within five years of the first, and a 7 percent risk of pancreatic cancer by age 80.
The news felt like a death sentence. As Wilson spoke, I felt like I was riding a carousel that was spinning too fast. I closed my eyes. She got up from the chair, and hugged me. My tears rolled down my cheeks and unto her shoulder, my black mascara staining her white lab coat.
“I’m so sorry. I can’t believe I lost it like that. I need to get it together. I have a bunch of questions,” I said. My hands were shaking.
“There is no need to apologize ... Let me bring you some water.”
Not all was tragic. We are all going to die one day. I was glad that biotechnology was challenging the hypothetical forces of destiny, fortune and fate.
Wilson returned with a bottle of water, and proceeded to enumerate the treatment: Annual mammography or breast MRI, semiannual transvaginal ultrasound and blood testing for (CA-125), a biomarker that is used to detect early stage ovarian cancer. The most disturbing recommendation was the preventive surgical removal of the ovaries (oophorectomy), which would reduce the risk of ovarian cancer up to 96 percent.