“Is this the lump you were feeling?” my primary care physician asked, my right breast under her gloved fingers.
I whispered yes. I was wildly hoping I had imagined the lump… that it was just a normal part of breast ductwork and muscle. The doctor’s confirmation sent me hurtling out of hope and toward reality; in just under 60 seconds, control over my own life had been cut right out from under me.
My mom survived breast cancer at age 39 and had more recently been diagnosed with colon cancer at age 80. Her oncology team suggested genetic testing, and my mom was found to carry the CHEK2 gene mutation which predisposed her to both of the cancers she had experienced.
The CHEK2 mutation was only lately discovered to magnify cancer risk. Depending on gene variant and family history, CHEK2 increases a woman’s chances for contracting breast cancer by 23-48 percent.
The CHEK2 gene
The CHEK2 gene is passed down to direct descendants who each have a 50-50 shot at inheriting the gene themselves. CHEK2 is a mutation that can be monitored or managed prophylactically; it is not as aggressive as the BRCA1 or BRCA2 mutations made famous by actor Angelina Jolie. The BRCA breast gene mutations call for some brutally strong preventative action in early adulthood, or nerve-wracking wait-and-see testing on a frequent basis. BRCA ups the chances for breast cancer occurring in a woman to the hyperventilating region of 80 percent.
“It’s not a matter of if with BRCA,” doctors say. “It’s when.”
So, why was I worried about BRCA when my mom was a CHEK2 carrier?
A few months earlier, I had done a fun direct-to-consumer (DTC) DNA test to look at my lineage through Ancestry.com. Results informed me I am 100 percent Northern European, was likely to have blue eyes, and had a bunch of distant cousins in Scandinavia. What consumer tests performed in the USA could NOT tell me was health information. There are laws in place in the United States to protect people from mishandled DNA results and privacy breaches, but these laws also keep consumer test customers from learning about their own genetics.
The third-party DNA test
I found out that there are third-party companies online that can process beyond the raw data file provided to each direct-to-consumer test customer — adding genetic health predispositions to the general results that are allowed by U.S. law.
Promethease was recommended by users on a DNA Facebook group I followed, so when the company ran a free holiday special offering genetic health results based on your DNA raw data I quickly uploaded my file.
The Promethease site requires people to agree to six statements before a data upload can occur, including:
“I accept the risk of learning that I may be at high risk for a debilitating disease.”
Ten minutes later I was staring at my detailed DNA health results.
At the very top of my pages of gene descriptions, in a box rimmed in red with the actual word “BAD” next to it, was text informing me that I carried the BRCA2 gene mutation and should seek medical advice immediately.
It was a BAD moment.
And I was a liar: I most certainly did NOT “accept the risk of learning that I may be at high risk for a debilitating disease” and I went very quickly into denial. I waited three entire weeks before calling my doctor while googling BRCA2 and giving myself daily breast self-exams.
Making a BAD situation even worse, I found a hard lump above my nipple in my right breast.
In my exhaustive googling I learned a lot about this form of mutation-generated breast cancer — and between the palpable lump, a BRCA2 consumer test result, and a family history of genetically-based breast cancer I was looking at a very, very bleak prognosis.
On top of waiting for an appointment with my new primary care physician and living in terror, I was also confused.
WHY did my Promethease-via-Ancestry.com test results say I carried the BRCA2 gene mutation, when I was a direct descendent of a CHEK2 mutation carrier?
And on a totally freaked-out, primal-level, I lay awake every night to review the horrors of the gaping shift in my life: How long do I have to live? Who will watch over my three children? How do I pay my bills going through chemo, radiation, surgery, and recovery? Where will my cats and dogs end up?
And possibly the most horrifying question of all: Did I pass this breast gene mutation on to my oldest daughter?
The primary care physician
I chose Dr. X’s name from the group practice because her bio indicated that she specialized in Women’s Medicine, and my boobs certainly fell under that header.
“I took a direct-to-consumer DNA test though Ancestry,” I began. “After running the results through Promethease I found out I was a BRCA2 carrier.”
“Ancestry.com does NOT give out health information,” Dr. X said with a skeptical headshake.
“Yes, right — but I uploaded my data file to a third-party company called Promethease that retrieved info about my DNA and gave me a health report.”
She crinkled her nose up and tilted her head.
“I’ve never heard of that. I’m writing you a prescription for a mammogram.”
“A digital mammogram?” I asked.
“Nooooo,” Dr. X answered, typing away. “A standard mammogram.”
I took a deep breath.
“I have a breast lump,” I said slowly. “I have family history of breast cancer. I gave you my mom’s positive CHEK2 test results from Karmanos Cancer Center. I gave you a print-out of my BRCA2 consumer results that specified the gene mutation and its location. Wouldn’t the protocol be at least a digital mammogram… maybe with an ultrasound?”
Dr. X looked up from her iPad with another nose crinkle and tossed her long, shiny hair over her shoulder.
“Why don’t we just let the radiologist make that decision, hmmm?”
The mammogram technician at Van Elslander Cancer Center looked at my prescription in disbelief.
“A standard mammogram is a significantly less-accurate test,” she said, her eyes searching my face. “Wouldn’t you prefer a digital mammogram? With an ultrasound?”
I let out the breath I had been holding since walking numbly out of my primary care physician’s office a few days earlier.
“The digital mammogram could be $65 out-of-pocket if your insurance won’t cover it,” she added. “But we can do that for you right now, so you don’t have to come back and do a second test.”
I managed to nod. I wanted to cry.
I left my house at 5 that morning in order to be at the hospital by 6. I drove across town in darkness and sat as the lone patient in the dim, pre-dawn quiet of the breast clinic.
The technician’s words were the first sign of light I had seen in weeks. I could finally give up some of the fear I was carrying: I had people who wanted to help.
The mammogram technician and the ultrasound technician were kind, generous-spirited women, each with over 20 years of experience with women’s breasts. They both carried an extra sense — an intuitive acumen that calmed, and a presence that inspired confidence and possibility.
Exiting the breast clinic, I came face-to-face with a thirtyish woman entering the office. She was dressed in fashionable business clothes and had a death-grip on her Starbucks cup. I recognized the look on her face; it was the blank terror I had been carrying around for weeks.
We nearly collided, but I wasn’t on her radar. She was looking past me, down the hall to the suite of rooms that held the mammography equipment. I guessed this woman’s appointment was not of the routine type, but I knew she was walking into the capable hands of women who would treat her with care.
Sitting in the surgeon’s office several days later waiting for my mammogram and ultrasound results, I regretted not doing a laboratory test for family hereditary cancer sooner. If I was CHEK2 or BRCA2 I could have opted for a prophylactic bi-lateral mastectomy that allowed for breast reconstruction using my own skin, sparing my nipples. A prophylactic mastectomy would have saved my life, giving me a 99 percent chance of never getting breast cancer.
With a malignant breast tumor, my options were limited. If my lump was cancerous I had a tougher road cosmetically — and a harrowing road medically. Honestly, I knew if my diagnosis was cancer my priority was in living. I liked my boobs, but I liked life more.
My surgeon, Dr. Cheryl Wesen, is a breast cancer specialist. I had done my research and she was the reason I drove to a hospital clear across town. She was smart, she was experienced, and she radiated humanity. I needed her to lead me and my family out of the ramifications of a tiny genetic mutation that had affected us for generations. No, we couldn’t change our genes, but with medical surveillance and surgery we could fight cancer before it hit.
Dr Wesen stood right next to where I sat on the examining table, looking me in the eyes, her hand cupping my forearm. My mind raced; uh-oh, this can’t be good.
“Your mammogram and ultrasound reports are clear, Jean. But because of your family history and previous test results, I want you to have a breast MRI and meet with the hospital geneticist.”
I felt like I was processing in freefall. And someone had handed me a parachute.
I wanted to be insanely relieved, but I couldn’t have heard what I just heard.
“My results are CLEAR? But what about the lump?”
“The lump has dissipated. It was most likely a calcified milk duct, which can happen when we get older. We need to understand your family genetics before you make any other decisions and I want you to be tested with a laboratory-quality DNA test.”
WHAM. And just like that, my parachute opened. I had my life back.
Well, mostly back. The magnetic resonance imaging (MRI) breast scan was the last procedure on my path to cancer detection. With my lump now undetectable, a biopsy was no longer necessary. Again, I showed up before dawn and walked down silent halls to the hospital’s imaging center where I was the only one waiting. And again, I gave myself over to another team of compassionate technicians who hooked up the IV for the dye that would run through my body.
My diagnostic tests were all painless, but nothing about testing for cancer is relaxing. There is simply too much fear.
Can we talk about the physical fear for a second? Lung-squeezing, room-spinning, waking-in-the-middle-of-the-night fear? Waiting for or dealing with a cancer diagnosis strips everything down to hope, dread, and cortisol.
I was wheeled into the huge MRI tube lying flat on my belly, arms stretched out overhead, breasts absurdly placed through cutouts. As the machine boomed darkly around me I refused to give in to panic: You do NOT want to stop this machine and have to re-do this entire procedure, do you? Oh HELL no. Fight the fear! You’ve made it this far — just a few more minutes…
The scans of my breasts were clear. Not-so-clear: the messages in my DNA.
“I’m seeing more and more patients coming in for genetic counseling after using a direct-to-consumer DNA test,” said Medical Geneticist Dr. Allison Jay. “My colleagues in urban areas or at cancer treatment centers wonder why I keep bringing this issue up at conferences — their patient base is less likely to use a DTC genetics test, but what I’m seeing walking in the door at this clinic is the future.”
Dr. Jay is very much a science detective with a medical degree. She is an expert in breast cancer, colon cancer, and genetic syndromes and was interested in my verified family history with CHEK2 and my BRCA2 direct-to-consumer test result. Two weeks after submitting a blood sample, I was sitting in Dr. Jay’s office at the hospital waiting to hear genetic results that would map my next medical steps.
The results were not what I expected.
“About 40 percent of the results from direct-to-consumer DNA tests are wrong,” Dr. Jay began, pulling my results folder from a stack.
“Hospitals use reputable labs like Ambry Genetics, Invitae, or Myriad which prefer blood samples from a patient and are all CLIA- and CAP-certified. These labs also have larger databases, which offer more accurate results.”
Dr. Jay handed me a folder from Invitae containing the outcome of my hereditary cancer panel.
“Jean, you do not carry the BRCA2 breast gene mutation and you also did not inherit your family’s CHEK2 mutation. I had the lab run the tests twice.”
This time my rush of relief was for my oldest daughter who would have had a 50/50 chance at inheriting either mutation if I had been a carrier. My next thought was for my siblings, nieces, and cousins who shared my Scandinavian roots.
The family history
CHEK2 hitched a ride across the Atlantic Ocean with an ancestor over one hundred years ago, and silently downloaded through my family tree. Was it carried by Anna or Gustave or Uldricka or Henry? I have present-day relatives spread across the USA who have no clue what may be written in their DNA.
Following the American Cancer Society’s average-risk recommended guidelines for first mammograms (age 40-45) or first colonoscopies (age 45) could be deadly for a male or female carrier unaware of CHEK2’s early, cancerous influence on breasts, colon, and prostate.
When my mom developed breast cancer at age 39 back in the 1970s, her doctors removed the lump along with her breast and called it a “fluke.” It took scientists another 40 years to find the mutated gene that failed to suppress the growth of her tumor.
Doctors and scientists now know there are other familial gene mutations yet to be discovered; if your family has a history of cancer without a known genetic connection like BRCA or CHEK2 it could be wise to proactively monitor your health beyond current recommendations.
Known genetic mutation carriers need to go off the American Medical Association grid and understand and demand the increased level and frequency of testing that will catch pre-cancerous changes in the earliest possibly stages.
Laboratory DNA testing for hereditary cancers is frequently covered by health insurance. Deeply discounted or free testing is available from Ambry, Invitae, and Myriad for people who have insufficient or zero insurance coverage. The biggest hurdle to genetic testing is not the cost of the test, it is facing your fear of the results.
Four of my family members have recently been tested for CHEK2 and while their results are theirs alone to share, by testing they’ve taken the knowledge-option that will help them engineer long, healthy lives.
I’m proud of my relatives for their courage, their determination and their commitment to wellness.
This makes me happy to acknowledge: it must be in their genes.
The lessons learned
- Don’t settle. Find yourself a medical team with expertise and compassion.
- Educate yourself. Genetics are a fast-changing specialty and you may know more than your primary care physician (whose last class in genetics was back in med school, twenty years ago).
- Go BIG. Investigate hospitals with premier cancer centers, geneticists and access to cutting-edge clinical studies.
- Think ordinary. When fear and panic hit, find small, everyday moments of joy to bridge the anxiety and apply some comfort. Read, write, walk the dog, listen to music, cook for others — what simple things during your day make you feel good?
- Reach out. You have an invisible army out there, made up of real-life friends and online strangers in Facebook groups who have walked this same scary walk and who are ready to support you. No one else will understand the terror of being blindsided by cancer or the long-term worry over a genetic diagnosis. These fighters, pre-vivors, and survivors will be there for you. YOU ARE NOT ALONE.
Jean MacLeod is an author living in Michigan with three daughters and five rescue animals. Two of her daughters were adopted from China, leading Jean to write about relationships and the intersection of family and genetics. She is employed as a director of communications, specializing in storytelling and social media.