This is the second of a two-day package examining the issue of inherited breast cancer and genetic testing.
If new diagnoses of invasive breast cancer were spread out over every hour of this year, it would mean every 3 minutes a U.S. woman or man would be given that news. Every 13 minutes, a life is lost to breast cancer. Though risk for breast cancer increases with age, the risk is not the same for individuals in any given age group.
Inherited mutations of certain genes greatly increase breast cancer risk, yet the mutations are the cause of up to 10 percent, at most, of all breast cancers.
Genetic counseling and testing are readily available today. Knowing your risk could ease your mind. It also could save your or a loved one's life if several family members have already been diagnosed with breast, ovarian, prostate or certain other cancers.
Today read the stories of three women diagnosed with breast cancer who had genetic testing and how they faced the complex decisions before them after learning the results.
Rebecca Harding's journey with cancer has been a winding road over a 14-year span. There were uncertain days of gray spent in hospitals and clinics and sun-filled days of hope and cheer delivered by others in the form of prayers and kind deeds.
“I started in 1997 with a right-sided lump in my breast,” Harding recalled. She was just 37 years old. With no family history of breast cancer, she wasn't too worried and told the surgeon, “Let's get this lump out.” Because several lymph nodes were positive for cancer cells, a lumpectomy was followed by radiation and chemo.
Life got back to normal until 2006, when a malignant melanoma developed on her right arm.
“I thought it might be related to sun exposure. I'm fair skinned. The doctor excised it – and that was that. I never had any recurrence.”
Harding at the time was working as a therapist with Fort Wayne psychologist Barbara Gelder. Sensing God calling her to become a pastor, she also began classes at Bethany Theological Seminary in Richmond.
Two years after Harding had the melanoma removed, her sister was diagnosed with breast cancer, leading Harding to wonder if there could be a hereditary link. But no one suggested genetic testing, though it was available at the time.
In May 2011, Harding graduated with her master of divinity degree and began sending her resume to churches in need of a pastor. Interviews had just started when in September 2001, Harding found a lump in her other breast. The surgeon recommended genetic testing. When the results were back he told her, “'Unfortunately, you're testing positive for BRCA2 (mutation).” All Harding's doctors, as well as Fort Wayne geneticist Dr. Patricia Bader, whom she consulted, concurred the best plan of action was removal of both breasts and a hysterectomy to prevent recurrence of the cancer.
BRCA1 and BRCA 2 mutations increase breast cancer risk by 50 to 70 percent and ovarian cancer by 10 to 40 percent. Harding's sister tested positive for a BRCA2 mutation, too; Harding's son was negative. She and her husband, Leland, also have two adopted sons.
“I've told my adopted sons, 'Thank goodness you do not have my genes.'”
After her November 2011 surgery, Harding started chemo that December. However, because her breast cancer was “triple negative,” certain therapies could not be used.
Having both breasts and her ovaries removed was a “no-brainer decision,” said Harding, who in September 2012 moved with her family to Luray, Va., where she pastors a Church of the Brethren.
“Because I am BRCA2 positive (for a mutation) I learned I'm not only at risk for all the female cancers, I'm at risk for melanoma and pancreatic and gastric cancers. All my close relatives have a 50 percent risk of having the mutation.
“I've heard people say they wouldn't want to know if they are positive (for a BRCA mutation.). That's wrong-headed. If you know what's in that genetic testing, you can have the necessary screenings.”
Annual mammograms are no longer recommended for women age 50 to 74 with no known BRCA mutation or history of chest radiation. Harding disagrees with the recommendations set by the U.S. Preventive Services Task Force and advises,encouraging women to advocate for themselves and be aware of cancer signs and risks.
Advocacy led to a new Indiana law that now requires women be told if they have dense breast tissue, which is visible on a mammogram.
Tumors are not easily detected by mammography in dense tissue. One in every two women has dense breasts and may need additional screening such as an ultrasound and MRI. Under the new law, most health insurance policies sold in Indiana must cover the added screenings for women with high breast density.
Sisters usually share a special bond and when they are twins the connection can be even closer. But like sisters in general, twins often have opposite interests and tastes.
Deborah Baresic and her twin, Patty Lutsch, both chose nursing as a profession. Yet when it came to vigilance about breast self-exams and getting mammograms, Baresic, of Fort Wayne, and her twin, who lives in Louisville, Ky., had very different approaches.
During Baresic's annual mammogram seven years ago, a tumor was found in one of her breasts. As a women's health nurse practitioner, she was well educated on the various kinds of breast cancer. She knew diagnoses can range from a very-contained cancer in a milk duct or lobule of the breast to invasive cancer that has spread to other parts of the breast, to lymph nodes and other organs.
A biopsy was scheduled, but even before it was done, Baresic was on the phone to her sister.
“ 'They think I might have breast cancer. Are you getting mammograms?'” she asked Lutsch, who responded with a no and also confirmed she did not do self-exams. “I told her right then she needed to get a mammogram right away and start doing breast exams. I told her to go home and check her breasts that night.”
Lutsch took her sister's advice.
“She went home that night and found a grape-sized lump in her breast,” Baresic said. Subsequent tests confirmed she had invasive breast cancer that fortunately had not spread beyond that breast. Baresic's biopsy showed she had ductal carcinoma in situ, or DCIS, which means the cancer was contained in a duct.
The sisters were 52 at the time.
“Since we were twins and diagnosed with breast cancer at the same time, my doctor suggested I consider genetic testing.” Results were negative for BRCA 1 and BRCA2 gene mutations, which are associated with faster growing tumors and with other cancers such as prostate and gastric carcinoma.
Both sisters are doing well, even though Baresic developed DCIS in her other breast in 2008. Now Lutsch also gets annual mammograms and does breast self-exams.
In 2009, U.S. mammography recommendations for normal-risk women ages 50 to 79 changed from annual to biannual exams, but Fort Wayne breast surgeon Dr. Adeline Deladisma of Parkview Physicians Group General Surgical Specialists said mammography remains the gold standard for breast cancer detection. Still, she finds too many women are not getting mammograms at all.
Francine's Friends mobile mammography is convenient and even free for Fort Wayne-area uninsured, low-income women, “but I see women here who have jobs and insurance and are not getting mammograms,” said Deladisma, who moved to Fort Wayne less than a year ago from the East Coast.
“I've seen women in my practice here who tell me they felt a lump a year ago,” but delayed having a mammogram or an exam by a doctor. “I'm not sure why that is,” she said. Unfortunately, as a surgeon, when those women are finally referred to her, their cancers are by then invasive.
While Deladisma encourages genetic testing in younger women with breast cancer or who meet other criteria such as a close relative with breast cancer, “I can't emphasize enough the importance of mammography,” she said.
Baresic opted for a mastectomy rather than lumpectomy after her cancer diagnosis in both breasts, even though lumpectomy is standard care for DCIS. She also had reconstruction of both breasts.
“Some women will refuse to have anything but a lumpectomy, and there are some who want a mastectomy no matter what,” Deladisma said. For a woman with a BRCA mutation, such as actress Angelina Jolie, “It is reasonable to choose preventive mastectomy,” to have one or both healthy breasts removed. “I make sure they understand the risks of surgery.
“It's amazing today what can be done with reconstruction, but there is a lot of misinformation about it too,” Deladisma said. Women assume their nipples can be spared, for example, but that depends on tumor location and size. Deladisma does not do breast reconstruction surgery and recommends that patients considering such should consult with several plastic or reconstructive specialists.
Baresic does not regret her decision to have mastectomies, noting, “It's every woman's personal decision. It certainly wasn't an easy thing to go through at all, but it was the right thing for me.”
After Jolie, who has never had cancer, wrote a New York Times op-ed piece in May about her choice to have a preventive double mastectomy, Baresic was disturbed by a Facebook discussion among friends who criticized Jolie's decision as Hollywood hype. Jolie has a BRCA1 mutation, and her mother and an aunt died of ovarian cancer.
After several days of reading the Facebook comments, “I wrote this big, long post about why this is a good decision for some women and included a link to the Susan G. Komen site” Baresic said.
“It's time we as women stop bashing each other and start supporting each other.”
Nancy Mann is not one to complain much, even during years of hard work to become a full professor in the Department of Dental Education at Indiana University-Purdue University Fort Wayne.
So in 2006, when the then-52-year-old felt a lump on her right breast, she took action immediately and fought the cancer, invasive ductal carcinoma, with a lumpectomy, chemotherapy and radiation. Hair loss, deep fatigue, radiation burns and untold hours spent in doctors' offices did not stand in the way of Mann's career or diminish her faith in God or her optimism for life in general.
But some complaining is good, Mann learned, if done in the right way to the right person. An old Yugoslavian proverb states: “Complain to one who can help you.”
The maxim likely saved her life.
Three years after her breast cancer diagnosis, Mann stumbled on an uneven section of sidewalk during her daily neighborhood walk. The fall broke two ribs and caused nasty bruises.
“I hurt everywhere,” she recalled. The ribs healed over time, but left-shoulder pain seemed to worsen. When she mentioned it to her oncologist, Dr. David Zimmerman, during a checkup, he surmised she might have torn the rotator cuff tendon and muscle group. An MRI confirmed such, and she had surgery in December 2009 to repair the injury.
By early summer 2010 the shoulder was fine, though a nagging pain in her left side remained, something she'd felt since her 2009 fall. However, soon that pain was overshadowed, at least for a time, by a new injury.
During a walk with her husband she fell again, severely dislocating three fingers. Much of that summer was spent in physical therapy to restore full use of her hand.
Just days before the fall 2010 semester started, Mann mentioned the on-going left-side pain to Zimmerman during a scheduled visit. He ordered a full-body CT scan. The only abnormal finding was a small spot on her right ovary.
“ 'I'm pretty sure you don't have anything,'” Mann recalled Zimmerman's reassurance. A test to check the level of a marker in the blood for ovarian cancer was just slightly above normal. “Dr. Zimmerman told me he thought I had about a 5 percent chance of ovarian cancer.” Taking no chances, he referred her to Dr. Michael Callahan, a gynecological oncologist with St. Vincent's Cancer Care in Indianapolis.
Callahan's risk calculation was bleaker: 50-50. So surgery was scheduled for Sept. 10. If Mann woke up with only tiny laparoscopic incisions, it meant no cancer was found in her ovaries. If she woke up with a long incision, a full hysterectomy had been done, ovarian cancer confirmed.
“I woke up with a bust-to-pubis incision.” For the first time since her breast cancer diagnosis, Mann, the mother of two adult sons, had to take time off from teaching. Months of grueling chemo followed surgery. “By Thanksgiving I had no hair again.”
Meanwhile, Zimmerman recommended Mann have genetic testing for a BRCA gene mutation. With no family history of either breast or ovarian cancer, he thought it unlikely she had a mutation, which is hereditary and increases risk of breast cancer by up to 70 percent and ovarian cancer by up to 40 percent.
Mann tested positive for a BRCA1 mutation. A new picture of risk for breast cancer recurrence unfolded. She opted for removal of both breasts and later had breast reconstruction surgery.
Through it all, Mann said, “I've never asked why. I believe life has a parallel track. When there is bad on one side there's something good on the other.” A fall that led to left-side pain, the exact cause which was never identified, led to a CT scan resulting in early diagnosis of ovarian cancer, a cancer with a genetic connection to her breast cancer. Family members are now aware of their possible risk.
Cancer can recur in remaining breast tissue after mastectomy, but the risk is small. Because Mann chose to have both breasts removed, she said, “My risk of breast cancer has been reduced to 4 percent.”