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Germline mismatch repair gene variants analyzed by universal sequencing in Japanese cancer patients

6 Aug 2019

Abstract excerpt

BACKGROUND: Lynch syndrome (LS) is the commonest inherited cancer syndrome caused by pathogenic variants of germline DNA mismatch repair (g.MMR) genes. Genome-wide sequencing is now increasingly applied for tumor characterization, but not for g.MMR. The aim of this study was to evaluate the incidence and pathogenicity of g.MMR variants in Japanese cancer patients. METHODS: Four g.MMR genes (MLH1, MSH2, MSH6, and...

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PMID: 31386297
DOI: 10.1002/cam4.2432

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