Molecular Basis of MSH2-Deficient Tumors

What is it about?

Lynch-like syndrome (LLS) patients may have a wide variety of molecular backgrounds, here we aimed to define those by different techniques in a series of 58 patients harbouring MSH2-deficient tumours. Fourty of the 58 were diagnosed with Lynch syndrome. Interestingly, 5 LLS patients were carriers of predicted pathogenic germline variants in BUB1, SETD2, FAN1 and MUTYH. Three patients had double somatic hits in MSH2 or MSH6, and another 2 had somatic alterations in other MMR genes and/or proofreading polymerases.

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