“Don't wait until you possibly might have some symptoms. Be informed and do research.”
Karen, 67, knows what living with Lynch syndrome is like and wants others to be aware of the risks. Karen’s family history of the condition dates back at least three generations and sadly claimed the lives of Karen’s elder sister and father.
Karen, happy and healthy, living life on the Mornington Peninsula, wearing her Cancer Council hat
Lynch syndrome is one of Australia’s most common inherited cancer risks, with one in 280 Australians believed to carry the mismatch repair gene deficiency. The syndrome is still extremely under-diagnosed, with roughly 90 per cent of carriers unaware of their status.
People with Lynch syndrome face an increased chance of developing certain cancers across their lifetime, including bowel and endometrial cancers, often at a younger age than the general population.
With public awareness slowly increasing of the syndrome, and now an annual global day of recognition on 22 March, cancer advocates of this little-known condition are calling for improved diagnosis.
Three factors you can check to know your risk
A general guide to identigying families who may carry Lunch Syndrome is provided by the 3, 2, 1 rule.
3
Three or more family members (including you) have been diagnosed with a Lynch Syndrome associated cancer
2
Two consecutive generations or more are affected
1
One affected family member is diagnosed with a Lynch Syndrome associated cancer before 50 years of age
Although this criterion is an important diagnostic tool, it can sometimes fail to identify some families with Lynch sydnrome. It is best to speak to your doctor to find out if genetic counselling and testing would be suitable for you.
Karen’s self-discovery came when she found out that her then 32-year-old-sister had bowel cancer, leaving her shocked. When her sister’s specialist recommended that both Karen, 31 at the time, and her younger sister, have a colonoscopy to check for cancer, a five-centimetre tumour was discovered in Karen’s bowel, requiring a total colectomy.
Karen’s initial reaction to the news was ‘surprise, and a bit of shock’, predominantly because no one in her family knew that bowel cancer could be hereditary.
Today, Karen is happy to be living a life not defined by Lynch syndrome. As part of her surveillance plan, she has annual check-ups with her gynaecologist to check for cancer.
Karen’s words of advice for those living with Lynch syndrome is a simple one, “Be proactive with your health. Suggest that family members speak to health professionals to see what their risk factors for inherited cancers are also.”
The vital activities of Lynch Syndrome Australia, the leading voice for individuals and families affected by Lynch syndrome, are now being integrated into Cancer Council Victoria. Thanks to the kindness of people like you, Cancer Council Victoria will continue to advocate for all Australians living with Lynch syndrome and their families.
Questions about Lynch Syndrome
If you have any concerns about yourself or a family member, you can contact 13 11 20 to speak to an experienced cancer nurse or click the link below.
Learn more about Lynch Syndrome
Return to Breakthrough May 2024 edition