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.

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Screening all new colon and rectal cancer tumors for markers that might indicate Lynch syndrome not only saves future lives, it is cost effective according to a new study.

In order for tumor screening to be cost-effective, not only should new tumors be tested, but family members need to follow through with genetic testing after a new Lynch mutation is found.  Finally people with Lynch syndrome mutations need to follow surveillance guidelines to prevent cancer or find it early,

Testing both tumors and at least three to four family members could cost as little of $36,000 per life year saved — well within the value of preventive health strategies. Read the rest of this entry »