An international study described in the Oct. 17 Journal of the American Medical Association (JAMA) found that universal tumor testing in all newly diagnosed colorectal patients produced a “modest increase” in finding people with Lynch syndrome.
One in every 35 people with colorectal cancer has Lynch syndrome – an inherited genetic mutation which greatly increases the person’s chance of developing colorectal cancer more than once, plus other cancers (stomach, pancreas, urinary system, brain or skin cancers). Women with Lynch syndrome also face a 40-60 percent chance of developing endometrial (uterine) cancer in their lifetime and an increased risk for ovarian cancer.
Until genetic tests of tumors became available in recent years, Lynch syndrome could only be diagnosed based on a family history of cancers. But even with genetic testing, Lynch syndrome is still significantly under-diagnosed.