Lynch Syndrome

Lynch syndrome, also known as Hereditary Non-Polyposis Colorectal Cancer Syndrome (HNCC) is an inherited risk for certain cancers caused by mutation of one of the genes that is responsible for repair of damaged DNA. Patients with HNPCC have higher than average risk of endometrial and ovarian cancers; and cancers of the colon, stomach, small intestine, liver, brain and urinary system. The lifetime risk of endometrial cancer for women with HNPCC is approximately 65%. The risk for ovarian cancer for women with HNPCC is approximately 12%.

Multiple members of a gene family have been linked to this hereditary condition, most notably MLH1, MSH2 and MSH6 genes. When a member of this family of genes is mutated, the every day damage that happens in DNA cannot be repaired. Eventually the regulation of cell growth becomes uncontrolled in a cell due to DNA damage, and a cancer begins to grow from that damaged cell.

Genetic testing is available for the mutations that cause Lynch Syndrome. Women concerned about their personal or family history for the cancers mentioned above, especially a combination of colon and endometrial cancers, should ask about genetic counseling to find out what testing is appropriate for them.

Screening and Prevention Recommendations for Women with Lynch Syndrome

  • Have an evaluation of the colon by colonoscopy at age 20-25 or younger, repeated every 1-2 years.
  • Have a gynecology exam 1-2 times per year.
  • Have both a transvaginal ultrasound and the CA 125 blood test two times per year. starting at age 25-35 until the ovaries and fallopian tubes are removed.
  • Be aware of the symptoms of uterine, ovarian and colon cancers.
  • Report any abnormal vaginal bleeding or other symptoms to your doctor.
  • If a woman with Lynch Syndrome requires surgical removal of the colon (colectomy) because of cancer or pre-cancer changes, then it is appropriate to remove the uterus and ovaries at the same time to reduce the risk of ovarian and endometrial cancer.
  • Undergo preventive removal of the ovaries and fallopian tubes after you after childbearing is done.

For your reference, this is pasted from www.fightlynch.org:

If you are a woman with the Lynch syndrome gene, experts suggest that you:

Look for abnormal bleeding, unusual periods, lower abdominal pain, pelvic cramping, or unusual fatigue and report these symptoms to your doctor.

Obtain regular medical care and get an annual pelvic exam.

Tell your health care provider that you have Lynch syndrome and discuss any symptoms.

Starting at age 30 (or sooner based on family history), get an annual endometrial biopsy (a small tissue sample taken from the lining of the uterus) and an ultrasound of the uterus and ovaries.*

Don’t smoke. Smoking has been linked to an increased cancer risk in Lynch syndrome patients. Smoking also can delay wound healing and increase surgical complications.

Eat a balanced diet and maintain a healthy weight.

Exercise regularly. It builds a positive attitude and develops strong core muscles. This helps if you ever require surgery. Your recovery will be easier and less dependent on others.

Consider preventive removal of the ovaries, fallopian tubes and uterus after childbearing is done.

In addition to checking for endometrial and ovarian cancers, women (and men) should consider the following steps for colon, kidney, and stomach cancers:

Discuss taking aspirin daily with your physician.

Beginning at age 20 - 25 (or sooner based on family history) get an initial colonoscopy. Do follow-up testing every 1- 2 years until age 39 and annually beginning at age 40.

Beginning at age 20 - 25 (or sooner based on family history) get an initial EGD. Do follow-up testing every 2 years.

Beginning at age 25, get a yearly urinalysis to look for kidney cancer.

A colonoscopy examines the colon and part of the small intestine with a small camera.

An EGD (esophagogastroduodenoscopy) examines the lining of the esophagus, stomach, and upper duodenum with a small camera which is inserted down the throat.