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A Ghost in the Genes

It was six months past the due date for Vivienne Kimmel’s yearly screening mammogram. However, as a registered nurse and STEMI (heart attack) coordinator at Torrance Memorial Medical Center, Kimmel, 49, was reminded of its importance while visiting the Torrance Memorial Breast Diagnostic Center’s booth at an employee health fair. She decided to make an appointment.

Following her February 15, 2012 screening, she was asked to return for an ultrasound to further examine some calcifications the size of grains of sand found in her right breast tissue. After the procedure, radiologist Patricia Sacks, MD, was “reassuring and optimistic” but recommended she undergo a biopsy, “just to be sure.”

“After being called back for numerous tests -- an ultrasound, a biopsy -- I began to have an ominous feeling I might have cancer,” Kimmel says.

David Chan, MD, oncology, Torrance Memorial Physician Network, presented Kimmel with the news: The biopsy confirmed the calcifications were indeed cancer. Because her father had died of colon cancer, her maternal grandmother of an unspecified cancer and her maternal aunt of ovarian cancer, Dr. Chan recommended she undergo genetic testing to determine whether she might be positive for a harmful mutation of the BRCA1 or BRCA2 genes.

She took a blood test, which confirmed two weeks later she was BRCA1 positive. “It was not at all on my radar. It was more devastating to hear the news I was BRCA1 positive than to receive the cancer diagnosis,” Kimmel says.

The BRCA1 gene has been in the spotlight, following actress Angelina Jolie’s May announcement she had undergone a preventive double mastectomy to reduce her chances of breast cancer. Her decision followed a discovery that she carries the BRCA1 gene, which puts her at high risk for breast cancer—a disease that took the life of her mother at age 56.

When normal, the BRCA1 and BRCA2 genes produce tumor suppressor proteins. These proteins help repair damaged DNA and, therefore, play a role in ensuring the stability of the cell’s genetic material. When either of these genes mutate, the DNA, when damaged, may not repair itself properly. As a result, cells are more likely to develop additional genetic alterations that can lead to cancer.

BRCA1 and BRCA2 mutations account for about 20% to 25% of hereditary breast cancers and about 5% to 10% of all breast cancers. In addition, mutations in BRCA1 and BRCA2 account for around 15% of ovarian cancers.

Breast cancers associated with BRCA1 and BRCA2 mutations also tend to develop at younger ages than sporadic breast cancers. The harmful mutations can be inherited from a person’s mother or father. Each child of a parent who carries a mutation has a 50% chance of inheriting the mutation.

Upon learning the news, Kimmel consulted with Breast Diagnostic Center nurse navigator Gina Rembert, RN, to plot her course of action. “At every step, everyone at the center was soothing, empathetic and supportive,” Kimmel says. “Gina was very thorough in explaining what I was going to experience—from diagnosis to treatment— and guided me toward valuable resources to help me through my journey.”

Such resources included the Cancer Resource Center of the Torrance Memorial Donald and Priscilla Hunt Cancer Institute. It offers services such as treatment consultation, education, referrals, image enhancement services, transportation assistance during treatment, and information on support groups.

Because the cancer had not spread beyond Kimmel’s breast, neither radiation nor chemotherapy was necessary, so she sought the counsel of her OB/GYN, Barbara Schulz, MD. Seven years ago, Dr. Schulz became one of the first physicians in the South Bay to take an avid interest in and begin offering patients this type of genetic screening.

Her interest and expertise led to her appointment as a national speaker for Myriad Genetics & Laboratories. The Salt Lake City-based company owns the rights to BRCA1 and BRCA2 gene testing, as well as to the isolated gene sequence itself.

For patients, a positive BRCA1 or BRCA2 diagnosis produces what Dr. Schulz calls a “twin towers” effect. “It has a huge emotional impact. There is a two-week waiting period before you learn the results. If the test is positive, you appreciate the knowledge, but it’s also very daunting.”

Testing costs $4,000 and is usually covered by insurance if a patient has a family or personal history of breast cancer. It’s recommended that women with a BRCA1 diagnosis ages 35 to 40 and/or after child-bearing have a double mastectomy. Because as many as half of early-stage, treatable ovarian cancers are not detected even by the most vigilant screening efforts, total hysterectomy with removal of tubes and ovaries is also recommended. If a woman opts not to receive a hysterectomy, surveillance every six months with blood work and ultrasound is the optimal alternative.

For those with the BRCA2 gene, the recommended path is surveillance of the breasts through alternating mammograms and MRIs every six months with prophylactic use of the drug tamoxifen. Total hysterectomy with removal of tubes and ovaries is also advised.

With her then 4-year-old daughter’s future in mind, Kimmel made the decision to undergo a double mastectomy and hysterectomy. Her husband Kevin supported her decision.

“Statistically my chances of having cancer are 80%. I also had a few friends, along with my general surgeon (Melanie Friedlander, MD, Association of South Bay Surgeons), who had experienced a recurrence of breast cancer. I did not want that,” she says.

In May 2012, Kimmel underwent her first surgery—a double mastectomy and phase one of her breast reconstruction. The nearly 18-hour procedure was performed at Torrance Memorial by Dr. Friedlander, Michael Newman, MD, and Lisa Jewell, MD, of South Bay Plastic Surgeons. Her six-day post-op recovery took place in the Torrance

Memorial Burn Unit, which offers advanced technology and comprehensive multidisciplinary expertise in skin and tissue profusion.

“It’s not an easy surgery, but the burn unit nurses were awesome,” she says.

Referring to her reconstructive surgery, she says, “Dr. Newman is an artist. You really have to look closely to tell that my breasts aren’t natural.”

In August, Dr. Schulz, Ramin Mirhashemi, MD, gynecologic oncology, and Dr. Newman performed her second procedure: prophylactic hysterectomy and additional breast reconstruction. Recent studies point to the fallopian tubes as the possible origin of ovarian cancers. This finding has led to the recommendation that tubes also be removed during all hysterectomy procedures. Dr. Schulz says an “astounding” discovery in Kimmel’s pathology report supports these findings: the discovery of precancerous cells in one of her tubes.

It turns out Kimmel isn’t the only one in her family haunted by her genetic past. Upon her diagnosis, she suggested that her sisters, Cathy, 44, of Mar Vista, and Georgina, 53, of Torrance, consider genetic screenings and counseling.

Tests revealed they too are BRCA1 positive. In 2012, both sisters underwent hysterectomies but have held off on double mastectomies for now. They are being closely monitored for breast cancer, receiving alternating mammograms and MRIs every six months. Their 79-year-old mother in Australia has never had cancer and has opted not to be tested.

“It’s just something you have to accept and deal with,” says Georgina. “We’re all very lucky we have a really close bond. We really support each other and coordinated the scheduling of our surgeries so we could drive each other to appointments and take care of each other through the recovery process.”

The sisters have informed their cousins in their native Australia about their BRCA1 diagnosis but leave it to them to choose what to do with the information. “It’s a very personal decision. I’m very glad it’s behind me. Now I have the same risk for these cancers as anyone else,” said Kimmel.

She continues, “I haven’t decided yet how and when I’ll tell my daughter about her risk factors, but I’ll leave it up to her to decide whether she wants to undergo genetic counseling.” Her sisters’ children are aware of their risk factors for the gene and have also been left to make up their own minds.

Today Kimmel is slowly getting back to her normal activities, including riding her horse, Aggie, at the Empty Saddle Club in Rolling Hills and walking The Strand with her sister Georgina.

“I was in a very bad accident in 1990 and lived at Torrance Memorial for a month. The rehab lasted many months after that. At that time my appreciation for life changed. You take every day for the most and take time to smell the roses,” she says. “My diagnosis and journey with my breast cancer was an exclamation point for that.”

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