Lynch Syndrome

What can I do to manage my increased risk of cancers?

Screening

• Colorectal
  • Annual colonoscopies
  • Aspirin can be considered to reduce cancer risk
• Uterine (endometrial)
  • Pelvic examinations and endometrial biopsies
  • Prompt and early reporting of symptoms is encouraged (e.g., abnormal uterine bleeding or postmenopausal bleeding)
• Ovaries
  • Pelvic examinations
  • Prompt and early reporting of symptoms is encouraged (e.g., pelvic or abdominal pain, bloating, increased abdominal girth, difficulty eating, early satiety, or urinary frequency or urgency)
• Gastric
  • Upper gastrointestinal (GI) endoscopy
  • Testing and treatment of H. pylori infections
• Urinary tract
  • Urine tests
  • Early reporting of symptoms (e.g. blood in urine) is encouraged

Your managing doctor(s) will discuss screening recommendations with you in greater detail. The age and onset of screening may depend on your personal and/or family history of cancer. Screening guidelines may change as more information is known.

Risk-reducing surgery

These options are not standard management practices but may be offered on a case-by-case basis. Surgery is generally offered to patients who have been diagnosed with cancer and require surgery as part of their treatment plan.

• Colorectal
  • Surgery to remove parts of / the entire colon
• Uterus
  • Surgery to remove the uterus
• Ovaries
  • Surgery to remove both ovaries and fallopian tubes

Individuals can consider removing both the uterus and ovaries at the same time to reduce the risk of cancer.

These options will be discussed in detail with you by your managing doctor(s). These surgeries reduce the risk of cancer significantly but do not remove the risk completely.

Lifestyle adjustments

• Promote avoidance/cessation of smoking
• Keep a healthy diet and active lifestyle
• Practise sun-smart behaviour such as using sunscreen

Reproductive options

Couples who are both carriers of the same faulty MMR gene can consider assisted reproductive options when planning a pregnancy. Their children have a 1 in 4 chance (25%) of inheriting two faulty copies of the same MMR gene – one from each parent – resulting in a condition known as constitutional mismatch repair deficiency (CMMRD) syndrome as shown below. Those who inherit two faulty copies of the same MMR gene have CMMRD.

Individuals with CMMRD are at risk of developing blood malignancies, brain tumours, and colon, small bowel, uterine, gastric, urologic and other types of cancer. They may develop multiple cancers throughout their lifetime and may present early in childhood.

We recommend people with Lynch syndrome to speak to a genetic counsellor prior to family planning and pregnancy to find out how their partners can undergo genetic testing to understand their carrier status, and to understand their options for assisted reproductive techniques.