What is Lynch Genetic Testing?

It is estimated that as many as 1 in 300 people have Lynch syndrome, but very few people even know what Lynch Syndrome is.

Lynch Syndrome is a genetic disorder that increases the likelihood of developing certain types of cancer, most commonly colorectal cancer. The other name for the condition is hereditary non-polyposis colorectal cancer (HNPCC). And because Lynch Syndrome is a dominant hereditary trait, if just one parent has the gene, the odds are very high that the condition will be present in their children.

What are the characteristics of Lynch syndrome?

The effects of Lynch syndrome can be observed by the development of certain types of cancer.  If found positive, the highest associated risks over a patient’s lifetime are a 40-80% likelihood of developing colorectal cancer, and 11-19% risk of stomach cancer.

In addition, women with Lynch syndrome have a 20-60% chance of developing endometrial cancer, and 9-12% chance of developing ovarian cancer.

What kind of testing is there?

DNA testing is recommended if circumstantial evidence points to the possibility that the family carries this genetic mutation.  Scientists have observed genetic mutations in families with the syndrome. Alterations in the genes MLH1, MSH2, MSH6, PMS2, and/or EPCAM are known factors. Fortunately, that means that the condition can be determined through testing.

Who should get tested?

Sometimes patients will get tested for Lynch syndrome if they develop one or more of the associated cancers before the age of 50. If a person has one or more close relatives with colorectal and another type of Lynch-correlated cancer, especially if at least one developed before age 50, doctors may recommend testing.

What if I have Lynch syndrome?

If you have Lynch syndrome, there are guidelines for screening that can help detect cancers at the earliest stage and increase the success of treatment.

A colonoscopy should be performed every 1-2 years beginning at age 20 or 5 years younger than the age that a family member with the condition was diagnosed. An upper endoscopy should be performed every 2-5 years. Any other cancers that were observed in close relatives should be screened for on a regular basis. It is recommended that women with Lynch Syndrome undergo an annual pelvic exam, ultrasound and endometrial biopsy starting at age 35. Because of the high risk of reproductive organ cancer, some women opt for a preventive hysterectomy.

Having children

One parent with Lynch syndrome has a 50% risk of having a child with the disorder. If the parent is diagnosed before having children, it is possible to perform genetic testing on an embryo if the parents opt for in-vitro fertilization (IVF). The parents can choose to implant only embryos that are free from the condition. IVF and genetic testing compounded with a rare genetic disorder can make a difficult process even more difficult and emotional. Options for having children who are not genetically related to the affected parent may be considered, depending on personal preference.

Patients in central Pennsylvania with genetic disorders affecting the gastrointestinal system or any GI concern trust the caring experts at Carlisle Digestive Disease Associates. Our board-certified physicians have served this area since 1990. For preventive screenings or treatment for acute or chronic GI conditions, call our Carlisle office for an appointment at 717-245-2228.