While many people know about the BRCA gene mutations that can lead to the development of breast cancer–even more so since renowned actress Angelina Jolie publicized the importance of being tested– fewer people know about Lynch Syndrome. Yet, testing for this mutation can prevent colon, endometrial, and ovarian cancer and enable early detection of pancreatic and urinary tract cancer, a Hadassah Medical Center research team reveals.
“I’m so passionate about this because I know this testing can save lives,” says Dr. Yael Goldberg, a Hadassah Medical Center oncologist and specialist in oncogenetics who led the research team. “Colon cancer can be prevented or detected early in around 90 percent of carriers of the mutation who do the correct follow-up procedures.”
Dr. Goldberg emphasizes: “If you have colon cancer or endometrial cancer in your family or if your colonoscopy turns up five or more polyps, you should be tested for Lynch Syndrome. It can literally save your life.” She further notes that our knowledge of typical founder mutations in specified ethnic groups, such as Ashkenazi Jews and Jews from Iran, the former Soviet Republic of Georgia, and Afghanistan, makes testing for the mutation simpler and quicker.
While the prevalence of the Lynch mutation is not as high as the BRCA one in either the general population or the Jewish population, it is significant: estimated as 1:370. In the United States, however, fewer than five percent of those who are at high risk actually get tested. In Israel, mainly due to lobbying by the collaborative research team from Hadassah, Ichilov Hospital/Tel Aviv Sourasky Medical Center, and Beilinson Hospital/Rabin Medical Center, the Israeli health care system will be covering this test as of January 2015.
The overall lifetime risk of developing the cancers associated with Lynch Syndrome has reached 80 percent. Furthermore, when both parents carry the gene mutation, there is a l:4 risk for having a child who carries mutations in both copies of the gene. This can result in a very morbid condition called C-MMRD, Dr. Goldberg reports, where the child is at high risk for a horrendous cluster of deadly cancers. As with Tay Sachs disease, she brings out, “awareness and screening for Lynch Syndrome could help avoid this condition.”
Dr. Goldberg was interviewed while she was in Paris for the European Human Genetics Conference in 2013. In this video of the interview, Dr. Goldberg discusses her work and some of her International collaborations concerning Lynch Syndrome and other genetic diseases. (In English with French subtitles).