This year Lynch Syndrome (LS) Awareness Day falls on March 22, 2022; a day to improve awareness of LS and highlight why testing, especially in families following a cancer diagnosis, is so important.
Lynch syndrome (LS) is an inherited condition caused by pathogenic variants in Mismatch Repair (MMR) Genes that result in an increased risk of colorectal, endometrial, and other cancers.
An ambition within the NHS Long Term Plan is that by 2028, 75% of cancers will be diagnosed at an early stage and one way this will be achieved, is via targeted screening and personalised surveillance of those at most risk of developing cancer, including those with Lynch syndrome.
Individuals with Lynch syndrome have a lifetime risk of bowel cancer of up to 80% and endometrial cancer of 60% depending on which gene is affected.
Current estimates suggest that LS affects 1 in 250 people, with an estimated 200,000-300,000 people in the UK living with the syndrome but less than 5% have a confirmed diagnosis that they have the condition.
If everyone diagnosed with colorectal cancer and endometrial cancer and their family members were tested for LS and placed on an appropriate surveillance pathway by 2028, then it could result in a significant increase in the proportion of cancers diagnosed early.
By embedding genomics into the mainstream health service, we aim to deliver improvements for patients including effective, quicker diagnosis of rare conditions, personalising treatment, and care for those with inherited conditions such as LS and cancer and building a better understanding of the underlying cause of many conditions.