Screening and Prevention
There are measures that can be taken to help detect or prevent some of the most common cancers associated with Lynch Syndrome.
For Colorectal Cancer, which is the cancer most commonly associated with Lynch Syndrome, there are highly effective screening methods or tests which can detect the cancer in the very early stages. In fact, colorectal cancer is one of the very few cancers that can be effectively prevented through screening. It is also highly treatable if it is diagnosed in its early stages.
The type of screening test you will undergo is called a colonoscopy, which allows the physician to directly view the rectum and the entire colon and detect changes or abnormalities.
Your doctor will probably recommend that you have a colonoscopy every one or two years. This will start from the age of 25 for people with mutations in the MLH1 or MSH2 gene, and at the age of 35 for those with mutations in the MSH6 or PMS2 genes.5
You can find more information on colonoscopy and colorectal cancer HERE.
Your doctor may recommend one of the following procedures to check for changes that could be linked to endometrial cancer:
- A transvaginal ultrasound scan: An ultrasound scan is a procedure that uses high frequency sound waves to create a picture of a part of the inside of your body. This can show changes in your uterus, ovaries or surrounding structures. Ultrasound scans aren’t painful but can cause some discomfort.
- An endometrial biopsy: A small piece of tissue is taken from the lining of the uterus and examined under a microscope. Your doctor will insert a speculum into the vagina to hold it open so that your cervix can be viewed, while a very thin suction tube is inserted into the uterus to collect the tissue sample.
Your doctor may recommend that you have one of these tests every year starting between the ages of 30 and 35.5
Preventative treatment: Hysterectomy
Women with Lynch Syndrome who are at an increased risk of endometrial cancer may also consider having surgery to remove their uterus once they have completed their family. This procedure is called a hysterectomy.
Of course, this is not an easy decision, and it is a big operation that can have some short-term complications. But hysterectomy has been shown to be an effective strategy for preventing endometrial cancer in women with Lynch Syndrome.8
Your doctor may recommend both of the following procedures to check for changes that could be linked to ovarian cancer:
- A CA 125 test: This is a simple blood test that measures the amount of the protein CA 125 (cancer antigen 125) in the blood. The amount of CA 125 can be an indication of early signs of ovarian cancer.
- A transvaginal ultrasound scan: A CA 125 test is not accurate enough by itself to confirm the signs of ovarian cancer. A transvaginal ultrasound will probably be recommended as well. An ultrasound scan is a procedure that uses high frequency sound waves to create a picture of a part of the inside of your body. This can show up changes in your uterus, ovaries or surrounding structures. Ultrasound scans aren’t painful but can cause some discomfort.
Your doctor may recommend that you have these tests every year starting between the ages of 30 and 35.5
Preventative treatment: Bilateral salpingo-oophorectomy (BSO)
Women with Lynch Syndrome who are at an increased risk of ovarian cancer may also consider having surgery to remove their ovaries and fallopian tubes. This procedure is called a risk-reducing bilateral salpingo-oophorectomy (BSO).
Research has shown that a BSO is an effective way of preventing ovarian cancer in women with Lynch Syndrome.9
Stomach / Gastric Cancer
Your doctor may recommend one or both of the following tests to check for changes that could be linked to stomach / gastric cancer:
- Upper gastrointestinal (GI) endoscopy: Upper GI endoscopy is a procedure in which a doctor uses an endoscope, a flexible tube with a camera, to see the lining of your upper GI tract. You will likely be given a sedative for this procedure. You’ll be asked to lie on your side on an exam table. The doctor will carefully pass the endoscope down your oesophagus and into your stomach and duodenum. A small camera mounted on the endoscope will send a video image to a monitor, allowing close examination of the lining of your upper GI tract.
- Helicobacter Pyloris (H.Pylori) test: H.Pylori is a bacteria which can be found in the stomach and is associated with an increased risk of gastric cancer. Your GP can do a simple test to check for H.Pylori infection, usually either via a stool sample or a breath test.
Your doctor may recommend that you have these tests every one to three years.5
5. Stjepanovic N, Moreira L, Carneiro F, et al. ESMO Clinical Practice Guidelines for diagnosis, treatment and follow-up. Ann Oncol (2019); 00: 1–34.
8. Pacelli J, Gosset M, Rossi L, Ngo C, Delomenie M, Nos C, Lécuru F, Bats AS. Faisabilité et résultats de l’hystérectomie prophylactique dans le Syndrome de Lynch [Prophylactic hysterectomy in Lynch Syndrome: Feasibility and outcomes]. Gynecol Obstet Fertil Senol. 2019 Jun;47(6):497-503. French. doi: 10.1016/j.gofs.2019.04.010. Epub 2019 Apr 16. PMID: 31003015.
9. Schmeler KM, Lynch HT, Chen LM, Munsell MF, Soliman PT, Clark MB, Daniels MS, White KG, Boyd-Rogers SG, Conrad PG, Yang KY, Rubin MM, Sun CC, Slomovitz BM, Gershenson DM, Lu KH. Prophylactic surgery to reduce the risk of gynecologic cancers in the Lynch Syndrome. N Engl J Med. 2006 Jan 19;354(3):261-9. doi: 10.1056/NEJMoa052627. PMID: 16421367.