The Molecular Basis of Lynch-like Syndrome

What is it about?

This chapter is focused in Lynch-like syndrome (LLS), that refers to a molecular diagnosis give to individuals with MMR-deficient Lynch syndrome (LS) spectrum tumors (in the absence of MLH1 methylation), in which no pathogenic germline mutation has been identified. Patients and their first-degree relatives are considered to have an intermediate risk of developing cancer between LS and the general population. Here we describe the most prominent work of the last years in the field.

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Why is it important?

It represents around 50% of the molecular diagnosis amongst patients with MMR-deficient tumors (not due to MLH1 methylation). And it is associated with a higher risk of developing cancer (than the general population).