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Breast cancer patient faces genetic mystery

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.

Wilson was holding the results of a Myriad Genetics’ BRACAnalysis test, which identifies the mutations that increase the risk of breast and ovarian cancer.

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.

The idea of having children becomes less appealing when you find out there is a 50/50 chance that either parent could pass the genetic mutation on to their child. But since I’m 33 I asked, “How long can I wait on that?”

Wilson said she had discussed my case with a reputable colleague in Europe. Their recommendation, being that I haven’t had children, was that I delay the surgery.

Three other doctors have agreed. Months have passed since that day, but it continues to haunt me. The genetic mutation has been on my mind throughout my breast cancer treatment: chemotherapy, a bilateral mastectomy and now radiation therapy. I have a week left of radiation. Hormone therapy and breast reconstruction are next.

The past few days I have been experiencing pain due to inflammation of the radiated scar tissue near the breast implant. On the surface, the radiated skin is beginning to look like roast chicken and I have a skin rupture the size of two coins under the left arm.

The treatments have focused for months on damaging my cells, both the cancerous ones and the healthy ones. The fear: What if some of the damage, which my genes are unable to repair, leads to a secondary cancer? Doctors at the University of Miami Sylvester Comprehensive Cancer Center have assured me the fear is unfounded.

The thought of having to go through any of this again is terrifying.

“The word chemo makes me panic,” I said in a text message to my friend Michael Maryanoff, a cancer patient in his 20s, who is undergoing chemotherapy.

“Yeah, I know the feeling You could be dead, and you are not. Not just could, but should,” he said in a following message. “We aren’t supposed to be here. Every day is extra.”


Part 1: At age 33, I’m dealing with breast cancer

Part 2: Cancer treatment complicates dreams of pregnancy

Part 3: Hanging in when chemotherapy gets rough

Part 4: Tough surgery choices: Mastectomy vs. Lumpectomy

Part 5: Silicone implans are not the only way to go in breast reconstruction

Part 6: Rebuilding the breast from body tissue

Part 7: Body fat can be used to build breast

Part 8: Facing my fears after mastectomy

Part 9: Taking control of the fear that comes with breast cancer

Part 10: Doctor knows about being a breast cancer survivor

Part 11: Radiation therapy gives her hope

Part 12: Finding strength from others

Part 13: Facebook, medication help breast cancer patient deal with depression

Part 14: A new outlook on 2012