Advancements in Cancer Risk Assessment in Lynch Syndrome

(Pictured, left: Xavier Llor, Md. PhD)

A large research collaboration has made important advancements in cancer risk assessment for families affected with the most common colorectal and endometrial cancer syndrome, Lynch Syndrome. The study has been published in the June 8th issue of the Journal of the American Medical Association.

Lynch syndrome is a condition in which people inherit a mutated gene resulting in a very high risk of developing several types of cancers, such as colon, endometrium, ovarian, or gastric. Four genes from the mismatch repair family of genes are responsible for Lynch syndrome.

What the family member really inherits with the condition are genes that lack the ability to correct the mistakes that are made on a regular basis when DNA duplicates in the cells. Over time, the dysfunctional DNA leads to abnormal tissue growth and cancer. The study provides accurate estimates of cancer risks by age, which is key in determining surveillance and prophylactic strategies that are major challenges in the clinical management of Lynch syndrome.

In an accompanying editorial, post doctoral research associate, Rosa M. Xicola, PhD, post doctoral research associate and Xavier Llor, MD, PhD, director of the Familial Gastrointestinal Cancer Unit (FGICU) at UIC, discuss the implications of the findings and compare them with other studies that show somewhat higher incidences of cancer probably related to selection bias.

Furthermore, they point out that it becomes very obvious that specific genes causing the syndrome carry significantly different cancer risks.

“Therefore risk assessment and surveillance recommendations should be done according to the mutated gene affecting a particular family. In some cases, very early cancer surveillance starting at age 25-30 is not warranted, and it can be delayed as risk does not increase significantly until later in life. This is personalized medicine being further refined,” Llor says.