One woman’s journey with genetic breast cancer

Staff Writer

The following story is told by Jennifer DuVall Ethridge and written by Melinda DuVall Neeley.

My breast cancer story is a little extraordinary. I did not discover a lump, have other breast cancer symptoms, or receive a diagnosis based on the reading of a yearly mammogram. Instead, my experience began with an intuition.


It was fall of 2002 when the intuitive feeling began — a nagging sensation telling me I needed to have my breasts checked. The feeling clung to me for several days, and never subsided.
I was only 34, which was well below the recommended age of 40 for baseline mammograms. The nagging sensation became so incessant, however, that I finally followed my gut and scheduled the exam.


Shockingly, I got a callback within just two days after the pictures were taken. The radiologist informed me that there were suspicious calcifications in my left breast.
“We need further diagnostic tests,” she said.
“What in the world was a calcification?” I thought, feeling panicked.
This word was foreign. For a moment, I think I stopped breathing. My heart began to race, and my palms became sweaty. But somehow, I managed to calm down and convince myself it was nothing.


After the diagnostic pictures were reviewed, things moved quickly, and before I even had time to become fearful, the radiologist scheduled me for a biopsy. A few days later, my family doctor read the report to me — I was floored.
“Stage 0 ductal carcinoma in situ” (noninvasive breast cancer inside the milk ducts),” the reports stated. Otherwise known as DCIS. Those cold, clinical words loomed over me like a dark cloud, and the thought “I have the ‘C’ word” wouldn’t leave my head. I envisioned this massive boulder, shaped like a C, being placed on my back. I never thought something like this could happen to me, especially so young in life.


Before I even had time to process the distressing news, my treatment began. The initial course of action included a lumpectomy and 33 radiation treatments. Although this sudden chain of events was frightening, and the treatments were uncomfortable and sometimes painful, I felt immensely thankful and blessed that the cancer was noninvasive and had been found early.


Reflecting back, cancer has probably always been a bit of a concern for me and other family members because it has drastically stunted the growth of our family tree.
My paternal grandmother died of breast cancer when she was only 35.
My Dad, who was just 7 at the time, and his sister, 5, lost the nurturing arms and gentle guidance of a beloved mother — a cruel unfairness that greatly impacted their world, even to this day.


My grandmother’s cancer was just the beginning of a terrible domino effect on the family.
After she died, one of my grandmother’s three sisters developed breast cancer in her 40s, but won that battle.
Unfortunately, when she reached her 80s, she died of colon cancer. In addition, my grandmother’s remaining siblings — two sisters and a brother — died of pancreatic or pancreatic-liver cancer.
Other family members began to come up with their own theories about this alarmingly high familial cancer rate, one being that it had been caused by a contaminated swimming hole the siblings swam in when they were little. It was later discovered that a nearby factory had used the water hole as a dumping ground for its chemical waste. But there will never be a way to prove this theory.
As years passed, the dominos began to fall again. One of my second cousins died from a combination of multiple myeloma and breast cancer, and another second cousin fought and survived her battle with thyroid cancer.
The numbers were rising at a frightening rate.
Then, in 1999, one of the most precious dominos of all fell.
My paternal first cousin, Cindy — a very beautiful and gentle spirit — was diagnosed with metastatic breast cancer. Alarmingly, she was only 29 years old. Her cancer was discovered during a routine examination when her gynecologist felt a large irregularity in one of her breasts.
After further testing, Cindy was strongly advised to undergo a double mastectomy due to the invasiveness and size of the cancer. She also opted to have breast reconstruction, and then several years later, became even more proactive by electing to have a prophylactic (preventative) oophorectomy (surgical removal of the ovaries). All of her surgeries and treatments ultimately extended her life. Her diagnosis occurred just a few years before mine.
Due to this outbreak of familial cancer, much of which has occurred in my relatives during early to middle adulthood, it has always been my concern that these vicious cancers might have hereditary causes.
But there was never any hard evidence — that is, until Cindy’s doctor’s pushed for genetic testing, and my Aunt DeAnne (Cindy’s mom), decided to enter a gene study.


Due to Cindy’s extremely young age at diagnosis, her doctor’s immediately suspected a gene mutation. Bound and determined to find out if a mutation was the culprit, her proactive doctors recommended that a blood test be performed on her to see if she carried the BRCA1 or BRCA2 gene mutation.
She tested positive for BRCA2, finally solving the mystery of why cancer has been invading our family for so many years. Although the mystery was solved, it meant crucial decisions about prevention would have to be made by the rest of the family: whether to get tested and what prevention options to use if test results were positive.
Through diagrams and studies, doctors traced breast cancer all the way back to my paternal great-great grandmother. The mutation could have started there, but no one will ever be certain. They explained that this mutation can disable the tumor-fighting ability in certain parts of your body, giving you an 85-percent chance of developing breast cancer as well as higher risks for various other cancers such as ovarian, pancreatic, prostrate, and thyroid. Being positive for this gene also means there is a 50-percent chance that you will pass the gene on to your children, doctors said.


To help further solve some of the family cancer mystery, Aunt DeAnne entered herself into a cancer genetics study at UAMS in Little Rock in 2000.
As both the mother and daughter of women with breast cancer, my dad’s sister was on the warpath. She has always been the backbone of the family so it was not surprising that she chose to do this.
She wanted to find reasons why her family has suffered, and to put an end to the tragic cancer saga. She, too, was tested for the BRCA2 mutation and was positive. She then aided genetic specialists with studies on the family to try to pinpoint the cause of the cancers — not just of the breast — but of ALL of the cancers. It was becoming very definite — they were all linked. 


Cindy and my aunt used this knowledge as empowerment, and began promoting BRCA2 genetic testing among close family. They made sure we knew that with testing, lifesaving cancer prevention measures could be taken if we tested positive, and insurance would more than likely cover preventative surgeries and medications.
Thankfully, my family united and agreed to be tested one by one. My dad tested positive, all three of Cindy’s sisters (my first cousins) tested negative, and my oldest sister also was negative. It was just a roll of the dice.
Since I already assumed I was positive for BRCA 2 due to having breast cancer at a young age, I waited several years for my test, but when I did have it done, it unsurprisingly came back positive.
My middle sister waited 12 years, but in 2015, finally made the decision to get tested. Unfortunately, she, too, had a positive result.


For someone who does carry the gene mutation but has not yet been diagnosed with cancer, there are several prevention options that offer much hope. These include:
•Increased surveillance with mammography and other imaging devices (such as ultrasound and MRI).
•Use of tamoxifen, or another estrogen blocker medication.
•Prophylactic surgeries such as bilateral mastectomy and/or salpingo-oophorectomy (removal of fallopian tubes and ovaries).
Although these are hard choices that should be made very carefully based on various health conditions, age, and emotional state, anyone testing positive for the BRCA1 or 2 mutations needs to know there are options available that can help prolong his or her life.
Sorrowfully, Cindy’s cancer came back when she was 38, and her condition began to deteriorate fairly quickly from that point.
That was all the motivation I needed to start signing up for prophylactic surgeries to help prevent the evils of cancer from coming back in my body.
I took action and had a prophylactic bilateral mastectomy with reconstructive surgery in 2007. Just six weeks later, I had a complete incisional hysterectomy, which included the removal of my ovaries and fallopian tubes. Although the experience was quite painful and challenging, I have no regrets — I am now a 15-year breast cancer survivor and have led a wonderful life.
Sadly, Cindy lost her battle in 2009.
Had she known about the BRCA2 early in life, perhaps her death could have been prevented.
That is why it is so important for me to tell this story. Cindy was only 40 years old and left a husband and three young children. But her legacy lives on. Because of Cindy and Aunt DeAnne’s strength, tenacity, and determination to get answers, the BRCA2 culprit was revealed, and this knowledge has in turn begun to save lives.
To date, several of the younger members of our family have become proactive about their health, too, and have gotten tested for the BRCA2 mutation. And now, they know what courses of prevention they can follow.


Through all of this I have learned that preventive measures outside of regular checkups just aren’t incorporated as a part of the cancer prevention protocol for younger women.
To date, women under 40 are not advised to have mammograms, due to the density of their breast tissue. Although ultrasound would be another option for detection, this normally isn’t recommended for young women unless their own mother or sister has had breast cancer.
Unfortunately, discovering breast cancer in a young woman normally occurs by chance or mistake. Too often, by the time it is discovered, it has already progressed to a later stage, leaving only radical options — as in Cindy’s case. I was an exception, but only due to my gut instinct, triggered perhaps by my underlying concerns about my family’s cancer history.
That is why I would like to see women monitored more closely, especially when they have “suspicious” family histories like mine — histories scattered with various cancers, not necessarily of the breast, and not necessarily in a mother or sister, but also the father — histories that are saturated with the disease.
Before my diagnosis, the closest relative I had with breast cancer was my grandmother, so I was not considered high risk. However, the rest of my extended family was ridden with cancer — a great indicator that something was genetically wrong.
I encourage anyone who has breast cancer in his or her family to be checked, no matter what age you are. Also, do not listen to the myth that you don’t have to be concerned if breast cancer is on your father’s side. With the BRCA2 gene, it can be passed down from either parent.


I have been through a lot since I had breast cancer — needles, radiation, pain, temporary incapacitation from surgeries, horrible side effects from treatment and medications, and the emotional struggles caused by losing parts of me that I felt were my womanhood. In addition, the Tamoxifen I took for five years as a cancer preventative threw me into early menopause at only 35.
But my faith in God has helped me through it all.
I am convinced it was God, and perhaps some earth angels (Aunt DeAnne and Cindy) and a guardian angel or two, who kept tugging on my shirttail and pushing at my heels, urging me to get checked at such an early age. Without symptoms, it was only through His guidance that the cancer was caught at Stage 0, leaving it with no opportunity to spread.
My advice to all women: Get thorough checkups; ask about genetic testing whenever there is a strong family history of ANY type of cancer; and no matter what age you are — always listen to God, your body, the revelations and wisdom of others, and your intuition – because these things can all be one and the same: God’s way of speaking to us.
And, when God speaks, it gives us the power to heal.