An early detection kit for colorectal cancer

Prof. Peltomäki aims to shed light on the interactions between our genes and our environment as cancer arises. She looks, in particular at epigenetic variations - changes at cellular or physiological level that are not caused by genetic modifications. Unlike changes in our DNA, epigenetic alterations are potentially reversible, which makes them promising targets for prevention and future treatments.

Her team focuses on colorectal cancer and it has shown that one of its main causes is a defect in our “DNA mismatch repair” (MMR) system, which, in normal circumstances, recognises and corrects errors that can occur when our DNA replicates. With a Proof of Concept grant, the researchers looked into an inherited MMR deficiency known as Lynch syndrome and could develop a diagnosis kit for this condition. People with Lynch syndrome have a dramatically increased risk of developing colorectal cancer in their lifetime: up to a 70% chance compared to 6% in the general population. They also have a higher risk of developing several other cancers.

The diagnostic strategy proposed by Prof. Päivi Peltomäki consists of a single step: the detection of decreased MMR capacity in a normal tissue. It could replace the traditional diagnostic workflow, usually including tumour studies, blood tests and a biopsy of an already established tumour. The method is also effective for people who do not have family members with cancer and whose genetic tests show no detectable change.

A spin-off company is now testing this one-step diagnosis kit. If successful, it could constitute an attractive, cost-efficient tool for healthcare providers to identify inherited cancer predisposition.