By Deborah Moon
Women of Ashkenazi (central or eastern European Jewish) descent have greater risks of developing breast or ovarian cancer due to a higher incidence of inherited genetic mutations. Ashkenazim have a one in 40 chance of having a harmful BRCA1/2 (BReast CAncer) genetic mutation. Only one in 400 people in the general U.S. population have such a mutation.
A mutation increases a woman’s lifetime risk of breast cancer from 12% (1 in 8) to nearly 80% (8 in 10); lifetime risk of ovarian cancer increases to between 16 and 60% versus just under 2% for the general population. Men with BRCA1/2 mutations also have increased risks of cancer – colon, prostate, pancreatic and breast.
Screening is available, and, in some cases, insurance will pay for it. According to Charlene Zidell, chair of “Your Jewish Genes and Cancer” held in April in Portland, “Testing can result in prevention, and your children will appreciate knowing whether they may be at risk as well.”
Still, not all Ashkenazi women need to be tested, according to Dr. Lucy Langer of Compass Oncology. “In general, genetic testing is not recommended for individuals without a personal history of cancer,” says Dr. Langer. “However, if there is a strong or suggestive family history, and if none of the other ‘affected’ (by cancer) individuals in the family are available for testing, we do recommend consideration for testing an unaffected individual who may be at risk.”
Recently Medicare rules were changed to pay for genetic screening for women with ovarian cancer. Daughters and granddaughters of those who test positive for a BRCA1/2 mutation should consider genetic testing as well. If a mutation is present, the National Comprehensive Cancer Network has guidelines with regard to breast exams, imaging (mammography and MRI), risk-reduction surgery (breasts and ovaries) and psychosocial needs.
Reducing the number of women who die from ovarian cancer is more likely to result from genetic testing than from improved treatment options, according to Dr. Scott Rushing, a gynecologic oncologist with Compass Oncology. Dr. Rushing says that while improved treatment can extend survival rates for women with ovarian cancer, “prophylactic oophorectomy (removal of healthy ovaries in women who have an elevated risk for ovarian cancer) is where we will move the meter on women dying of the disease.”
For women who are diagnosed with ovarian cancer, Dr. Rushing says there are two treatment options considered standard of care that are not being offered to all women, but which can significantly prolong life.
Having cancerous ovaries removed by a gynecological oncologist ensures that the surgery is performed by someone with both gynecologic and oncology expertise. Dr. Rushing said studies have shown that has resulted in longer survival rates than for those who have the surgery done by a gynecologist without extensive oncology experience.
Additionally, intraperitoneal therapy has contributed greatly to helping women live longer with ovarian cancer. A recent study revealed that chemotherapy administered directly into the abdominal cavity extends life an average of 17 months versus the traditional intravenous chemotherapy.
The IP chemotherapy is administered via a catheter inserted into the abdomen. Though some women cannot tolerate the increased abdominal discomfort and other side effects of the IP therapy, Dr. Rushing says having even one of the standard six chemo treatments via IP instead of IV has been shown to prolong life in a meaningful way. After increased discomfort during the treatment regime, Dr. Rushing says the long-term side effects are no different than with IV treatments.
Dr. Tanja Pejovic of the OHSU Knight Cancer Institute has also seen exciting advances in ovarian cancer treatment. Research is showing that two particular treatments “are things that give hope,” she says.
A molecularly targeted treatment, already used to treat other cancers, is now being tested for ovarian cancer. Testing removed tumors for specific genetic mutations enables doctors to use medicines specifically targeted to attack that mutation. For in- stance, when one of her patients had an ovarian tumor with the same genetic mutation as a common mutation in melanomas, the clinic obtained permission from the FDA to try the drug for that mutation on the ovarian cancer patient. The patient has responded very well, says Dr. Pejovic.
Another recent development is immunotherapy using mono- clonal antibodies and vaccines made from the patients’ cells. While Dr. Pejovic is not directly involved in that research, she says her colleagues who are “are extremely excited.” “There has not been a better time for ovarian cancer research,” she says. “It is going very fast.”