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Lynch Syndrome without mutation of Mismatch Repair Genes: The other face of the...

Background: Lynch Syndrome (LS) is the most frequent form of hereditary colorectal cancer (CRC) and derives from germinative mutations in the mismatch repais genes (MMR). The clinical diagnosis is based on Amsterdam criteria (AC) but definitive diagnostic is based on the identification of a MMR gene mutation. Of these, MLH1 and MSH2 are the most frequent, followed by MSH6 and rarely by other genes (PMS1 and PMS...