Lisa Cohen, Founder and Executive Director of BRACHA organization
The pretty cupcakes, iced in white, nestled in their pink sleeves, topped with pink and blue edible ribbons and sweet, sugared buds of spring. The tablecloths and napkins were pink, and organizer Lisa Cohen was wrapped in a dazzling blue outfit. But don’t be misled by the cute aesthetics of a recent Friday morning’s question-and-answer session in Kfar Saba on a specific gene mutation: there is nothing warm and fuzzy about the BRCA gene.
The gene, named (depending on whom you ask) either for UC Berkeley, California, where it was first discovered in 1990, or for BReast CAncer, is a human caretaker gene (also known as a tumor suppressor) that produces a protein responsible for repairing DNA. In normal cells, BRCA1 and BRCA2 help ensure the stability of the cell’s genetic material (DNA) and help prevent uncontrolled cell growth. If the BRCA gene itself is damaged it cannot do its work, increasing the risks for cancer. Mutation of the BRCA1 and BRCA2 genes has been linked to hereditary breast and pancreatic cancer (in men and women), and ovarian cancer in women. There is no increased risk of prostate cancer in men who are carriers of the mutant gene, but BRCA1 and 2 carriers who do develop this cancer are given a more aggressive form of chemotherapy.
One in 400 people have a mutation in the BRCA gene but that figure jumps to one in 40 if you are Jewish! Israel, therefore, has about 70,000 BRCA mutation carriers; 65,000 of them have never heard of the condition. This is a whopping great disaster as knowledge in this situation means not only power, but also the power to save your own life.
Here’s why: A BRCA1or 2 gene mutation raises your chances of getting breast cancer to 87% if you are a woman. That translates into a five-times greater risk of breast cancer than women at average lifetime risk. The average man is at a lifetime risk of 0.5% for breast cancer; BRCA2 mutations up this chance to 6%. The other frightening statistic is that the risk jumps 10 to 15 years each generation: if your mother, say, was a carrier and got breast cancer at 50, you are likely to develop the disease at 35 if you are a carrier too. Your child becomes at risk from the age of about 25. And so on. Remember; the mutation can be passed down from a father too; a child should be aware of any breast cancer in paternal family – grandmothers, aunts, cousins etc.
There’s more: A woman who is a BRCA mutant gene carrier has a 50% life-time risk of developing ovarian cancer (as opposed to a 1.5% chance among the general population). The risk of pancreatic, gastric and biliary tract cancer rises from about 1% in the general population to 6% among carriers.
Here’s the good news: carriers of the mutant gene can lower their risk of developing breast and ovarian cancer by 90%. And now for the bad news: the only certain way to do this is by surgery. And therein lies the rub: a prophylactic double mastectomy and the removal of your ovaries (after the age of 40) is not exactly a walk in the park. On the other hand, it does beat dying of cancer. And it’s a matter of education and awareness. In Sweden, for example, 80% of women with the gene opt to have the surgery and the rate is similarly high in many other western countries. In Israel, the vast majority of carriers have never heard of the condition.
Lisa Cohen, founder and director of BRACHA – an organization for women living with the mutant gene – is emphatic about the importance of genetic testing, and taking proactive measures to protect one’s health. She reels off irrefutable reasons for this attitude: four years ago, Cohen, who hails from Cardiff, lost first her mother and then her young sister to breast cancer, and discovered a lump on her own body shortly after that. Her tumor, thankfully, turned out to be benign, but Cohen, a mother of three, who found out about the gene by chance from a British source, elected to do a double mastectomy and have her ovaries removed immediately. Then she collapsed.
“I had been through so much,” she explains in her warm and empathetic manner, “and I just couldn’t find anyone to turn to. The doctors I consulted about the gene didn’t take me seriously, the Prevention of Cancer Society in Israel told me to come back to them when I got ill, hardly anyone had heard of the mutation and there was no support system.” So Cohen decided to form one.
BRACHA, the Hebrew word for blessing, is a nonprofit educational organization for healthy women “who are blessed to have found out about the BRCA gene before it can harm them,” says Cohen. “Once a woman discovers that she has a mutation she can choose surveillance or surgery, and live with the difficult consequences ... but at least she is living!” An obvious consequence of no ovaries is no more babies. Professor Eitan Friedman, Oncogeneticist at Tel Hashomer Hospital and Chair of BRACHA, suggests that women at risk have their ovaries out at age forty. Should these women want more children, they should first freeze embryos for future use.
Surgery is the only option for protecting yourself against ovarian cancer as there is no early detection of the disease. But a prophylactic double mastectomy is not for everyone; and for breast cancer there is another route. Surveillance for breast cancer for BRCA carriers means more than annual mammograms (which, claims Cohen, are not accurate for young breasts anyway, and don’t pick up much in pre-menopausal breast scans). She advocates testing for all women over the age of 25 and then a regular MRI for mutant BRCA carriers. At present, genetic testing for the four most prevalent gene mutations for Jews is available through the health funds, although there is a very long waiting list of up to a year. Once a woman has tested positive, she is eligible for an annual MRI without charge. (MRIs have a 94% success rate for surveillance, as opposed to a 9% sensitivity of mammograms in pre-menopausal women.) Cohen believes that this may be the reason the government is not promoting genetic testing – the MRI is an expensive diagnostic tool. According to Cohen the government is hesitant to offer it to the many thousands of women at risk.
Cohen, an environmental manager in her day job, is out to change all that. The BRACHA association (amuta) now has 10 professional volunteers on its board including a genetic oncologist, a surgeon and a gynocologist, and about 1000 affiliates. The organization is determined to spread the word through educational conferences, social events, an active forum and website, an international Facebook page and a personal phone answering service (often (wo)manned by Cohen). Cohen distributes informative pamphlets at genetic testing centers and has formed an International Coalition to share research, knowledge and ideas with organizations abroad.
Prof. Friedman believes that by 2020 all babies in Israel will be issued at birth with a CD of their genetic make-up, alleviating our need to choose whether to be tested or not. Until then it’s up to us to take responsibility for our health: if there is a chance you are a carrier, make an appointment to be tested for the BRCA gene mutation today.
As for those cuddly cupcakes at the recent BRACHA event: pale pink is the internationally accepted color of breast cancer awareness, pale blue denotes ovarian cancer. Cohen decided on bold blue and pink for BRACHA, to symbolize the brave, bright fight of proactive women against the disease. The nonprofit organization is run entirely by volunteers, and 100% of donations go towards educating the public about the gene. Help spread the word – you might just be able to save a life today.
For more information visit: www.bracha.org.il
or email: firstname.lastname@example.org
or call: 072 233 2974