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About the Author
KIM HORNER worked as a journalist for 21 years at newspapers including The Dallas Morning News. She received a Rosalynn Carter Fellowship for Mental Health Journalism and awards from the Texas Medical Association and Public Health Association for her coverage of the increased use of genetic testing for breast cancer risk. She lives in Richardson, Texas.
Read an Excerpt
Welcome to BRCAland
"I think that it brings power. ... it brings actual evidence of something that is concrete, that is wrong, that is nobody's fault, with the awareness that there are things that can be done about it. Not simple, pretty things, but there is action that can be taken. And it saves lives."
— Dr. Mary-Claire King, geneticist who pinpointed a genetic link to breast cancer in a region of chromosome 17, which she called BRCA1
I don't have cancer. But here I am, sitting in a packed waiting room, waiting to see an oncologist. My doctor sent me here because last month, I found out that I have a harmful BRCA2 genetic mutation, an inherited genetic abnormality that puts me at a crazy high risk for breast and ovarian cancer. My lab result states that I have an "as much as an 84 percent risk of breast cancer," though I've seen other information that puts my risk at closer to 50 percent.
The test result set off a flurry of appointments. Genetic counselor. Breast surgeon. Oncologist. Gynecological oncologist. MRI. The MRI, an extra layer of screening for high-risk patients, identified a "suspicious area." So, now I need a biopsy. Suddenly, I had a team of doctors with serious specialties who acted as if I was already sick.
The waiting room looks like any other. A couple rows of your basic wood chairs with mauve cushions, arranged close together. The oncology practice has a cold feel. No one is smiling. Maybe I'm in denial. Or it hasn't sunk in. I keep thinking I don't belong here. I'm 41 — a lot younger than any of the patients surrounding me. I'm the same age that my grandmother, Lucy Belle, whom I never got to meet, was when she died of breast cancer. She never got to see her three children finish growing up. I think about my son, Leo. He's only a year old, still in diapers. I get occasional flashes of panic worrying about whether a tumor might be growing inside me right now. I don't look or feel sick. I feel fine, except for the queasy feeling in my stomach. I haven't lost my hair. A fragile-looking older woman across the room is wearing a pretty, light blue floral scarf over her bald head. A woman with gray stubbles of hair on her head sits next to her husband, both staring grimly at the floor. I didn't think of asking my husband or anyone else to come with me. After all, I'm not sick. Somehow going alone keeps it from feeling like a Big Deal. I wonder how much longer I will have to wait. I just want to get out of this place.
The waiting area is so quiet. People talk in library voices. Everything seems to be in slow motion. A nurse calls a man who appears to be in his 70s and leads him through a door next to a sign that says, "Infusion Room." No one hurries into a place like that. Magazines spread out on the table feature upbeat stories with photos of smiling cancer survivors. In one, a woman had lived several years with metastatic breast cancer, meaning the cancer had spread from the breast to other parts of her body. She was determined to see her young children graduate from college. The odds did not seem good. Not that the magazine's readers need to be reminded. There's a brochure filled with young, attractive, smiling, women who don't look like cancer patients modeling cute brightly colored scarves, hats and nicely coiffed wigs for women who lose their hair from chemotherapy. I get uncomfortable as I look at bras with pockets for foam or silicone "breast forms." Will I need one someday? As soon as that thought crosses my mind, my brain interrupts and I skip to my assignment at work and worry about whether I will get back in time to finish it.
The oncology office is busy despite the silence. I think of a sick twist on an old Saturday Night Live skit and the line goes through my head that cancer has been very, very good to this place. I feel like I'm on an assembly line. First the check-in counter, then the windowless waiting room. Then they call me into a station where I wait again, in one of four chairs facing a curtained-off area, this time to have blood drawn. It's next to the infusion room. I catch a glimpse of people in light blue chairs that recline, hooked up to tubes that deliver harsh chemicals that hopefully will shrink their tumors and save their lives, not without dragging them through the lowest rungs of hell first. I've never been inside an oncology practice. I feel ill just being there.
My doctor says I probably will get breast cancer someday. He sent me to the oncologist to find out what I can do to keep that from happening. I don't even know exactly what my risk is because there is such a range of estimates. Knowing you have a family history of cancer is one thing. Finding out your risk could be 50 percent or higher is something else. The average woman's risk is 12 percent, which is still too much.
I zone out and look at the carpet. A nurse calls my name. She takes me to an examination room. Weight. Blood Pressure. Temperature. Undress from the waist up. Gown open to front. Then it's time to sit, waiting, again. I scan email on my phone. A few minutes later, there's a light knock on the door. Dr. B comes in. She's a thin, petite woman around 60 in heels and a perfectly pressed white lab coat over a dress. She smiles. She seems nice. I sit in a chair while she types answers about my family history into her computer. Then she asks me to lie on the exam table for a clinical breast exam. It's my second in the past couple weeks. I'd had clinical breast exams by gynecologists who gently pressed into my breasts. Not these breast surgeons and oncologists. They push and dig to find any possible lump until you feel pulverized. Thankfully it's over within a couple of minutes.
Afterward, Dr. B says I can get dressed and she leaves the room. A few minutes later, I hear a tap on the door. She comes in, sits on a round rolling stool and types something into her computer. She mentions my upcoming biopsy.
"If we find anything, the breasts are going to have to come off," she says in a matter-of-fact way as if we were talking about having to replace my car tires.
Breasts ... "come off?" That did it. The tears poured down my face.
Dr. B looked concerned and came closer. She put an arm lightly on my shoulder.
"Where is this coming from?" she said. Dr. B undoubtedly has given a lot of nightmare news to patients. On the scale of the news she has to deliver, this was barely a Category 1. But still.
I can't say anything. What is there to say? Hmmmmm. I don't know. Maybe from the thought of my breasts having to "come off?"
Everyone has two sets of BRCA1 and BRCA2 genes, one from each parent, that produce proteins that help repair damaged DNA, according to the National Cancer Institute (NCI), the federal government agency for cancer research and training. When the genes are working properly, they help suppress tumors. One of my BRCA2 genes, however, is broken. In addition to putting me at high risk for breast cancer, a BRCA2 mutation gives me an 11 percent to 17 percent risk of ovarian cancer. (Again, there is a range of estimates; it depends which study you look at.) This risk is more than 10 times higher than the risk of the average woman, according to the NCI. (The risk is even higher for women with BRCA1 mutations: an estimated 39 percent of women who inherit a harmful BRCA1 mutation will develop ovarian cancer by age 70.)
Breast and ovarian cancers associated with BRCA1 and BRCA2 mutations tend to strike at younger ages than non-BRCA related breast and ovarian cancers. BRCA mutations raise the risk of breast cancer in men, although the threat is still low. BRCA1 and BRCA2 mutations also have been linked to higher risks for other types of cancer, including pancreatic cancer.
Of course, I may never get any of these cancers. There's no way to know. I'm not even sure how scared I should be.
Before the BRCA test, I was cautious but didn't worry too much about breast cancer. Now, I can't think about much else. I keep thinking about the fact that my grandmother died at the same age I am now. Her life ended at an age when mine feels like it is beginning. I've only been married a couple of years. I had my son, Leo, at 39 and work at a job I love, writing about issues like housing, homelessness and poverty at The Dallas Morning News. Sometimes my heart pounds so hard it feels like it could break open and I get flushed and shaky as I wonder if cancer is already growing inside me.
Because of our family history, I started getting annual mammograms when I was about 30. I always felt comfortable that if I developed cancer, the screenings would catch it early. My first scare came in my early 30s when my gynecologist became concerned about a lump in my left breast. I had a biopsy and thankfully, there was no cancer, although the pathology revealed that I had atypical ductal hyperplasia (ADH), an abnormal cell growth that put me at higher risk for breast cancer, according to the American Cancer Society. At the time, in 2003, my doctors never suggested that I do anything about my risk beyond getting annual mammograms. My doctor had estimated my risk at about 18 percent using a common breast cancer risk assessment tool. My grandmother and great-grandmother died of breast cancer in their 40s, but my mom is in her 60s and has never had cancer. Her good fortune gave us a false sense of security. We had no idea, until the BRCA test, how deeply our breast cancer risk was stitched into our DNA.
I probably still wouldn't know if I didn't happen to fill out a voluntary questionnaire to assess my breast cancer risk when I went in for my annual mammogram. I answered a series of questions on a small tablet.
Do you have a family history of breast cancer?
Have you had atypical ductal hyperplasia?
Yes. (Found in the biopsy when I was in my 30s.)
And then there was the family tree.
Grandmother Lucy. Diagnosed at 38. Died at 41.
Great-grandmother Margaret. Diagnosed at 39. Died at 45.
Great-aunt Katherine. Diagnosed with what we'd been told was a stomach cancer. Died in her 70s.
I turned in the tablet, got my mammogram and didn't think much more about it.
A week or so later, I got a letter:
"Based on the information you provided in the survey you do exhibit enough of these criteria to be at a higher than average risk of developing breast cancer. It is recommended that you contact your primary care provider or the Breast Cancer Risk Assessment Service to discuss options which are appropriate to your individual risk."
I called the number provided. Could I come in to meet with a nurse practitioner to discuss the assessment? Sure. I scheduled an appointment, maintaining a "why not?" attitude. I wasn't too worried.
I met with Donna, a nurse practitioner. She was concerned about the fact that I had been diagnosed with atypical ductal hyperplasia and that my grandmother and great-grandmother died in their 40s of breast cancer. She went over my family history.
Before the appointment, my mom said to make sure to tell her that I had a great-uncle who died of breast cancer. Her mother's brother. I had forgotten about that. It was a while back and I'd never met him.
When I told Donna, her eyes nearly popped out.
"You have a male in your family who died of breast cancer?"
"Yes, my grandmother's brother."
A male with breast cancer. A great-grandmother and grandmother who died of breast cancer in their 40s. Atypical ductal hyperplasia. She said those were strong signs that our family may have a genetic mutation.
Donna asked if it was possible my great-great aunt had ovarian cancer rather than stomach cancer?
Huh? I had no idea.
"Sometimes women who were said to have died of stomach cancer actually had ovarian or uterine cancer," Donna said. "People didn't talk about those types of cancers back then."
What had been a fuzzy picture was coming into focus. If it was true — if my great-great aunt died of ovarian or uterine cancers — cancer may not be as limited and random in my family as I thought.
Donna suggested I meet with a genetic counselor, a specialist in genetics and counseling who helps people assess their risks and get tested for the BRCA mutation. The test, called BRACAnalysis, would be expensive, about $3,400, at the time. Insurance may or may not pay for it. The results might explain the devastation that cancer had caused in our family. She gave me a brochure from Myriad Genetic Laboratories Inc., a Salt Lake City, Utah, company that provides the test, that said "Be Ready Against Cancer." It said: "Even if there's a pattern of breast and/or ovarian cancer in your family, cancer doesn't have to be inevitable."
I don't know what I had expected from the meeting, but it wasn't this. I thought that she would have me answer more questions and tell me my risk was around 18 percent like my doctor had said. I told her I needed to think about the testing. I already knew I had a family history. How would it help to know if it was caused by a BRCA mutation?
"Your insurance would pay for extra screenings, so you can catch any cancer early," Donna said. "And you could make decisions about your health."
What about the downsides of getting the BRCA test? Would I be labeled as a high-risk? Would it be a pre-existing condition that could allow insurers to deny coverage? Would I be able to get new insurance if I left my job? (This was before federal regulations in the Affordable Care Act made that illegal.) Could an employer fire me if they found out? Would my insurance pay for the test? (It did. I was fortunate. It's too expensive for some. Later, the Affordable Care Act mandated coverage for high-risk patients, but many women still struggle to pay for tests and screenings involved.)
It was a lot to take in. Of course, I found plenty of information on the Internet to fuel my fears and generate more questions. There was a new federal law at the time, the Genetic Information Nondiscrimination Act of 2008 (GINA), which protects people from discrimination based on genetics. Would it work in reality? I couldn't find any examples of people being denied health insurance based on their genetic predisposition to a disease. People on the message boards I searched complained about getting turned down for life insurance policies due to their BRCA mutation. Life insurance is important if you die. I wanted to live. I talked it over with my husband, my mom, my sisters. The topic was so new to all of us. I needed to learn more about BRCA and what a positive result would mean. Christmas was coming. I put it off. I didn't want to find out I had a mutation during the holidays.
After New Year's, I made the appointment with the genetic counselor. I didn't want to let fear keep me from being tested. I wanted to know. I hoped the test would rule out a BRCA mutation. After all, the mutations are not common, at least in the general population. I wasn't aware of my family having any Ashkenazi Jewish heritage. What were the chances I'd test positive?
At the appointment, the genetic counselor, Beth, took a blood sample to ship to Myriad, the only lab that provided the test at the time due to a patent. (The U.S. Supreme Court later ruled against that patent, opening the door for other companies to conduct the test.) With insurance, my portion thankfully was around $340, which was a lot of money but better than $3,400. After the appointment, I headed back to work. For the next several days, I tried not to think about the fact that more than a thousand miles away, someone might be analyzing my DNA.
A week later, Beth called to tell me my results were back. My heart pounded.
"Can you tell me the results over the phone?" I asked.
"No, we don't give results over the phone."
She asked if I could come the next day. Or I could come in that afternoon. This sounded bad. I was getting nervous. I told my boss I had to go to an appointment. I sped from The News downtown to Central Expressway to the hospital to meet the genetic counselor and tried to focus on the road rather than the tornado in my stomach.
I sat in the genetic counselor's tiny office. She pulled out a stack of papers. I could see the words "deleterious mutation." I had no idea what that meant. I thought it might be good news. I felt a moment of relief.
Until I saw Beth's face. She said I had the BRCA2 mutation.
"The results of this analysis are consistent with the germline BRCA2 mutation 8803delC, resulting in a premature truncation of the BRCA2 protein at amino acid position 2862. Although the exact risk of breast and ovarian cancer conferred by this specific mutation has not been determined, studies of this type of mutation in high-risk families indicate that deleterious mutations in BRCA2 may confer as much as an 84 percent risk of breast cancer and a 27 percent risk of ovarian cancer by age 70 in women (Am. J. Hum. Genet. 62:676–689, 1998). Mutations in BRCA2 have been reported to confer a 12 percent risk of a second breast cancer within five years of the first (J. Clin Oncol 17:3396–3402, 1998), as well as a 16 percent risk of subsequent ovarian cancer (J Natl Cancer Inst 91:1310–1315, 1999) ..."
It turns out a deleterious mutation, as defined by the National Cancer Institute, is "a genetic alteration that increases an individual's susceptibility or predisposition to a certain disease or disorder. When such a variant (or mutation) is inherited, development of symptoms is more likely, but not certain. Also called disease-causing mutation, pathogenic variant, predisposing mutation, and susceptibility gene." I was stunned.
I had a mutation. The word itself even sounded awful, like I was a mutant.
This meant my grandmother and great-grandmother's cancers weren't just a couple cases of bad luck. It meant that their cancers probably were linked to my three great-great aunts' vague "stomach" cancers. It was much worse than I imagined. All these family cancers could be explained by this one error in our genetic code rather than random bad luck. None of these relatives had stood a chance against this mutation lurking in our genes.
We had caught a serial killer.(Continues…)
Excerpted from "Probably Someday Cancer"
Copyright © 2019 Kim Horner.
Excerpted by permission of University of North Texas Press.
All rights reserved. No part of this excerpt may be reproduced or reprinted without permission in writing from the publisher.
Excerpts are provided by Dial-A-Book Inc. solely for the personal use of visitors to this web site.
Table of Contents
Foreword Sue Friedman vii
1 Welcome to BRCAland 5
2 Not Simple, Pretty Things 20
3 The Fault in Our Genes 38
4 Pinkwashed 70
5 False Alarms 85
6 The Push 105
7 Just Do It 115
8 The Angelina 130
9 Surprise 136
10 From A to B 143
11 It's Always Something 159