When Breast Cancer is Hereditary

In some families, breast and ovarian cancers take an inordinately fierce toll, striking one generation after another, menacing mothers, daughters, sisters and cousins. And for the women in these families, wondering if and when cancer might strike becomes a daily burden.

Facing Our Risk of Cancer Empowered (FORCE) is a Web site designed for women living with this oppressive uncertainty. FORCE provides information and support to women who may wish to learn — or already know — whether they are at high risk of developing breast or ovarian cancer due to genetic predisposition, family history or other factors. These issues are of particular concern to Ashkenazi women, who are more likely to carry certain genetic alterations associated with increased incidence of breast and ovarian cancers.

While hereditary breast cancer accounts for only 5 to 10 percent of all breast cancer cases, as many as 70 percent of those cases stem from alterations in one of two genes, called BRCA1 and BRCA2. Ashkenazi women have a 2.5 percent chance of having one of the altered genes, compared to about .1 percent of the general population. Over the course of a lifetime, a woman carrying one of the gene alterations may have as high as seven times greater likelihood of developing breast cancer, and as high as 33 times the likelihood of developing ovarian cancer, as a woman in the general population. (Men inheriting one of the genes have a slightly higher likelihood of prostate cancer, and can also pass the gene along to their children.)

Susan Friedman developed FORCE three years ago after learning that she carried the BRCA2 alteration. The Florida veterinarian was 33 years old when she underwent a mastectomy. Eight months after her surgery, she experienced a recurrence in her lymph nodes, requiring a regimen of chemotherapy and radiation.

It was by coincidence that Friedman, who does not have a family history of the disease, read about the high incidence of breast cancer gene alterations among Ashkenazis. "A red light went off in my head," says Friedman, who soon got herself tested. Once she tested positive, she opted to undergo preventive removal of her other breast and ovaries, a procedure which appears to reduce future breast cancer risk by 90 percent.

Acknowledging the difficulty of taking such drastic measures, Friedman says, "I can’t say it was an easy decision, but it was a much easier decision for me than it would be for someone who has never had cancer. There’s no right or wrong answer."

FORCE aims to assist women in making such decisions by giving them information and empowerment. In addition to a message board and chat room, the Web site features a 10-page resource guide with links to information on such topics as how to evaluate medical resources on the Web, the advantages and disadvantages of genetic testing, researching one’s family history and ways to lower one’s risk. It also includes a listing of cancer genetics professionals nationwide.

Friedman coined the term "pre-vivor" to refer to those with a predisposition to cancer. "The decisions they have to make are every bit as agonizing as those for a breast cancer survivor, and their need for support is every bit as valid," she says.

For example, Friedman notes, the decision whether to undergo genetic testing is fraught with difficulties. Depending on a woman’s individual situation, the test may not be able to provide definitive information. Some women may prefer not to know whether they carry an alteration. And those who find out, face dilemmas around informing other family members and risking potential insurance or employment discrimination.

Yet for some, she says, "It can be a huge relief if a woman comes from a family with a BRCA mutation and she tests negative." (Not only would the woman herself be at lower risk, she also would not be passing on the high risk to her children.)

Friedman urges women considering testing — which ranges from several hundred to several thousand dollars — to see a risk assessment counselor or genetic counselor, professionals trained to discuss the complex issues surrounding such a decision.

If a woman does test positive for one of the gene alterations, she faces a number of options, "none of which are ideal," Friedman says. These include careful monitoring via mammography and clinical breast exam; taking tamoxifen, a drug that may prevent the disease; or undergoing preventive removal of the breasts and ovaries. Additional measures can be taken to monitor for ovarian cancer.

While not every woman who tests positive will develop breast or ovarian cancer, she will live with the knowledge that the odds are against her. On the other hand, since hereditary breast cancer accounts for only 5 to 10 percent of all breast cancer cases, those with no family history — and those who test negative — have no guarantee of avoiding the disease. For women at normal risk, experts recommend monthly breast self-exams, an annual clinical breast exam and yearly mammogram. In addition to following those guidelines, it seems the best defense is knowledge.

New Hope for HIBM Cure

Soroya Nazarian learned about hereditary inclusion body myopathy (HIBM), an uncommon muscular disorder that affects the Persian Jewish community, while in Israel on a Hadassah mission about five years ago. There, she met professor Zohar Argov, from the department of neurology at the Hebrew University-Hadassah Medical School in Jerusalem, the researcher who first discovered the rare disease in 1984. Although Nazarian did not know anyone personally affected with HIBM, the self-described “professional volunteer” knew her involvement with Hadassah Southern California put her in a unique position to increase awareness and raise funds for the condition that seemed to unfairly target her community.

Michael Banyan had a more personal reason for adopting HIBM as his cause. About a decade ago, the CEO and founder of an industrial alloy manufacturing company learned that he had the disease.

HIBM, typically strikes in early adulthood, slowly weakening the muscles of the limbs and eventually leading to total disability within one to two decades. Persian Jews are disproportionately stricken by the disease. They have a 5 to 10 percent chance of carrying the gene mutation responsible for HIBM. If both parents are carriers, their children have a 25 percent chance of being affected.

Nazarian and Banyan have become a dynamic duo of the HIBM cause, working jointly and independently to raise funds for research on the disease. The two helped mobilize Hadassah’s six Persian groups to collectively raise close to $350,000 for Hadassah Hospital research on HIBM.

As chair of Hadassah Southern California from 1997 to 1999, Nazarian was also instrumental in bringing the issue to the attention of the national organization. Banyan helped form a chapter of the Iranian American Jewish Federation dedicated to raising funds for HIBM research with the support of Solomon Rastegar, the organization’s president at that time.

These efforts are beginning to pay off. In September, researchers in Israel announced that they had identified the gene that causes HIBM. Dr. Stella Mitrani-Rosenbaum, a scientist at Hadassah-University Hospital on Mt. Scopus and a colleague of Argov’s, was one of the principal researchers to make the discovery. Mitrani-Rosenbaum says the findings give hope for the development of a therapy for the disease.

In the meantime, her laboratory has developed a genetic test to identify those who carry or are affected by the gene, and is working on a test to screen for it during pregnancy. (Those wishing to be tested must do so through a physician or genetic counselor.)

“Without the moral support and the most generous financial help of the Persian community … through Hadassah, it would have taken us significantly more time to achieve our aim,” says Mitrani-Rosenbaum.

HIBM does not solely affect the Persian community. Cases have been detected in Jews from Egypt, Afghanistan and Iraq. Nevertheless, its toll on Persian Jews initially caused Nazarian and others to fear that young Persians might marry outside the community out of fear of passing on the disease. She says this concern has declined now that people understand that the disease is not fatal, and that both parents need to be carriers in order to pass the condition along.

Nazarian commends those who have been willing to make their condition public. Like Banyan, Drs. Daniel and Boback Darvish, brothers who both have HIBM, have also spoken at Hadassah events and were part of the Iranian American Jewish Federation chapter dedicated to HIBM. “They’ve dedicated their lives to educating the community about this disease,” she says.

Banyan, meanwhile, maintains a hectic pace not slowed by HIBM. He commutes from Beverly Hills to his office in Anaheim. Only a slight limp gives any hint of his disease. Although no treatment or cure currently exists, he remains optimistic.

“When we started raising funds for HIBM, research [on the disease] was minimal and genetic research was not nearly as advanced,” he says. “With the speed of technology nowadays, and new discoveries being made every day, development of a therapy for HIBM is not very far off.”