Lynch syndrome

Lynch syndrome, previously known as hereditary nonpolyposis colorectal cancer (HNPCC), is a genetic condition that increases your risk of developing gynecologic cancers, specifically endometrial and ovarian cancer. Lynch syndrome is also linked to colon cancer and a number of cancers in the digestive tract.

Because Lynch syndrome is linked to such a wide variety of cancers, it is important to have access to a range of specialists. The Northwell Health Cancer Institute can offer care from expert teams who specialize in gynecologic cancers, gastrointestinal cancers and much more.

In addition to our cancer specialists, you also have access to our Cancer Genetics Program. Here, you will meet with a genetic counselor to evaluate your family history, determine what tests to order and discuss the results.

Our teams are passionate about providing an individualized treatment plan, whether it’s to reduce the risk of developing cancer or to treat cancer in its later stages. You can expect an approach tailored to your specific needs.

Lynch syndrome alone does not have any symptoms, though it does increase your risk for cancer. If you are experiencing any of the following, you may already have a cancerous condition caused by Lynch syndrome.

Common gastrointestinal cancer symptoms:

• Changes to the frequency of bowel movements
• Diarrhea, constipation or feeling the bowels are not completely emptied
• Bright red or dark blood in the stool

Common gynecologic cancer symptoms:

• Irregular vaginal bleeding including heavy irregular periods, bleeding in between periods and bleeding after menopause
• Difficult or painful urination
• Pain or bleeding during sexual intercourse
• Pain in the pelvic area

The cause of Lynch syndrome is genetic and can be inherited from either your father or mother. If one of your parents has Lynch syndrome, there is a 50 percent chance you will inherit the mutation. Several genes, including PMS2, MLH1, MSH2 and MSH6, are linked to Lynch syndrome.

If you or your family has a history of gynecologic or gastrointestinal cancers, especially endometrial, ovarian or colon cancer, you may be at risk for inheriting Lynch syndrome. Gynecologic and gastrointestinal cancers that start before the age of 50 can also indicate a risk of inheriting the mutation.

The risk of colon cancer increases by up to 80 percent if you have Lynch syndrome. Women with Lynch syndrome are 20 to 60 percent more likely to develop endometrial cancer, depending on the inherited mutation, and up to 10 percent more likely to develop ovarian cancer. The likelihood of developing other forms of cancer also increases by a variable amount.

If your family or personal history suggests you may have inherited Lynch syndrome, your doctor will order a genetic blood test. By examining your blood for the specific genes associated with Lynch syndrome, a genetic specialist can determine if your genes have any mutations.

The results do not determine whether or not you have cancer, only whether or not you are at a higher risk of developing certain cancers. After the results are received, your specialist will likely refer you to our genetic counseling team to further interpret the test and your personal risk of developing cancer.

Lynch syndrome may also be tested for during surgery for gynecologic or gastrointestinal cancer. During surgery, a pathologist will study tissue from a removed tumor to determine whether or not the disease was caused by Lynch syndrome.

If you inherited Lynch syndrome, your specialist will develop an individualized treatment plan to reduce your chances of developing cancer. If you are already being treated for cancer, you will be counseled on what your condition means, how it will affect you and the best next steps.

Women between the ages of 25 and 45 are typically offered chemoprevention. The most common form of chemoprevention, the birth control pill, has been shown to reduce the risk of ovarian cancer by 50 percent. In addition to chemoprevention, ultrasounds, colonoscopies, biopsies and other screening tests should be performed regularly to monitor for any developments.

When childbearing is complete, women between 40 and 45 years old are often offered risk-reducing minimally invasive surgery to remove the fallopian tubes, ovaries, uterus and/or colon, along with any additional tissue commonly affected by cancer linked to Lynch syndrome.

Men and women should begin receiving regular cancer screenings, including colonoscopies, urine samples and endoscopies every one to two years. Risk-reducing minimally invasive surgery to remove the colon and any additional tissue at risk of developing cancer may be necessary.

Our gynecologic and gastrointestinal oncologists are experts in robot-assisted and laparoscopic minimally invasive surgery, and are extremely experienced with these procedures. We also rigorously track outcomes to make sure we are offering the highest quality of care.