“A new study from the University of Michigan Comprehensive Cancer Center finds that many women diagnosed with breast cancer are concerned about the genetic risk of developing other cancers themselves or of a loved one developing cancer.
“Overall, 35 percent of women with breast cancer expressed a strong desire for genetic testing, but 43 percent of those women did not have a relevant discussion with a health care professional. The study also found that racial minority patients with a strong desire for testing were less likely than white patients to discuss it with a professional, even though studies show that minority patients are not at lower risk for these mutations.
” ‘Our findings suggest a marked unmet need for discussion about genetic risk,’ says study author Reshma Jagsi, M.D., D.Phil., associate professor of radiation oncology at the University of Michigan Medical School.
“About 5 percent to 10 percent of breast cancer patients have an inherited genetic mutation that drives their cancer. Many of the women who reported interest in genetic testing were at low risk of having a mutation and doctors would not typically discuss genetic risk with them.”
“The breast cancer drug tamoxifen has been shown to protect against the disease for at least 20 years in women who take the drug for five years.
“The IBIS-I trial (International Breast Cancer Intervention Study), led by Queen Mary University of London and funded by Cancer Research UK, has revealed that, among those using the drug breast cancer, rates fell by around a third.
“Professor Jack Cuzick, study leader and head of the Centre for Cancer Prevention at Queen Mary University of London, said: “A healthy diet and increased physical activity can help to prevent breast cancer, but for high risk women a more powerful intervention is needed. This is where tamoxifen, which is already recommended by NICE, [has] a role to play.”
“ ‘The landmark IBIS trials show the value of chemoprevention for women at high risk of breast cancer and highlight just how important these large and long-term studies are,’ said Dr Julie Sharp, head of health information at Cancer Research UK.
“The study, published in The Lancet Oncology, examined the long-term risks and benefits of taking tamoxifen to prevent breast cancer in women at high risk of the disease. Those classed as high risk were aged 35-70, primarily with a family history of breast cancer.”
“Most patients with triple-negative breast cancer should undergo genetic testing for mutations in known breast cancer predisposition genes, including BRCA1 and BRCA2, a Mayo Clinic-led study has found. The findings come from the largest analysis to date of genetic mutations in this aggressive form of breast cancer. The results of the research appear in the Journal of Clinical Oncology.
” ‘Clinicians need to think hard about screening all their triple-negative patients for mutations because there is a lot of value in learning that information, both in terms of the risk of recurrence to the individual and the risk to family members. In addition, there may be very specific therapeutic benefits of knowing if you have a mutation in a particular gene,’ says Fergus Couch, Ph.D., professor of laboratory medicine and pathology at Mayo Clinic and lead author of the study.
“The study found that almost 15 percent of triple-negative breast cancer patients had deleterious (harmful) mutations in predisposition genes. The vast majority of these mutations appeared in genes involved in the repair of DNA damage, suggesting that the origins of triple-negative breast cancer may be different from other forms of the disease. The study also provides evidence in support of the National Comprehensive Cancer Network (NCCN) guidelines for genetic testing of triple-negative breast cancer patients.
“Triple-negative breast cancer is a specific subset of breast cancer that makes up about 12 to 15 percent of all cases. The disease is difficult to treat because the tumors are missing the estrogen, progesterone and HER-2 receptors that are the target of the most common and most effective forms of therapy. However, recent studies have suggested that triple-negative breast cancer patients might harbor genetic mutations that make them more likely to respond to alternative treatments like cisplatin, a chemotherapy agent, or PARP inhibitors, anti-cancer agents that inhibit the poly (ADP-ribose) polymerase (PARP) family of enzymes.”