Article
A germline missense mutation in exon 3 of the MSH2 gene in a Lynch syndrome family: correlation with phenotype and localization assay.
Familial cancer - 1 Apr 2018
Bianchi Francesca, Maccaroni Elena, Belvederesi Laura, Brugiati Cristiana, Giampieri Riccardo, Bini Federica, Bracci Raffaella, Pagliaretta Silvia, Del Prete Michela, Piva Francesco, Mandolesi Alessandra, Scarpelli Marina, Berardi Rossana
Abstract excerpt
Lynch syndrome is caused by germline mutations in any of the MisMatch Repair (MMR) genes. About 37% of MSH2 variants are missense variants causing single amino-acid substitutions. Whether missense variants affect the normal function of MMR proteins is crucial both to provide affected families a more accurate risk assessment and to offer predictive testing to family members. Here we report one family, fulfilling...
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