Most women only undergo screening for harmful genetic mutations of the BRCA1 and BRCA2 genes if many family members have developed cancer. However, a new study revealed women of Ashkenazi Jewish descent with cancer-causing mutations have a high prevalence of breast cancer and ovarian cancer even if there’s no real family history.
To mimic a universal screening on a small scale, researchers initially offered 8,000 cancer-free Ashkenazi men over age 30 to get tested for the genetic mutation, eventually finding 175 who carried a harmful mutation of the BRCA1 and BRCA2 genes. Then the researchers asked female relatives to be tested for the mutation, finding 211 women who were affected by it. Half had nearly no family history of cancer, and only about one-third of those who did had been sent for a screening. But after getting tested in the study, they found cancer rates were high. If the women reached age 60, around 60 percent of the BRCA1 carriers and roughly 33 percent of BRCA2 carriers had fallen victim to breast or ovarian cancer. By age 80, the number rose to 83 percent of the BRCA1 carriers and 76 percent of BRCA2 carriers.
The mutations were found after random screenings, and many of the women in the study would not have discovered they were mutation carriers had the research not called for this test. That’s why the study authors recommend all women of Jewish Ashkenazi descent get tested for these potentially life-threatening mutations of the BRCA1 and BRCA2 genes.
The United States Preventive Services Task Force does not currently recommend counseling or screening in the absence of family history. The American Cancer Society only recommends action if an immediate family member has had cancer, or a family member developed it at a very young age. Researchers in this study suggest, with this new information, screening should be universal in this population of women. “We should be testing people who are still healthy at a stage when we can prevent the disease,” says study author Dr. Ephrat Levy-Lahad, director of the Medical Genetics Institute at Shaare Zedek Medical Center in Jerusalem. “And we don’t have many diseases with a mutation that so clearly affects risk as BRCA.”
It’ll probably be a long time before changes are made to guidelines, though, and questions still remain as to the exact link between the mutation and cancer, or how to deal if a woman tests positive. Some experts still aren’t sure how high the risk of developing the disease is in a person with a mutation and no family history. Also, if a woman tests positive for the mutation, lowering risk of developing cancer might involve surgically removing healthy breasts and ovaries—which is risky in itself, and obviously a huge decision for a woman to make.
So, right now, there’s no easy answer in light of this new information. However, the research seems to be a big step toward preventing cancer before it ever starts.