Article
Characterization of MSH2 variants by endogenous gene modification in mouse embryonic stem cells.
Human mutation - 1 Apr 2011
Wielders Eva A L, Dekker Rob J, Holt Ian, Morris Glenn E, te Riele Hein
Abstract excerpt
Mutations in the mismatch repair gene MSH2 underlie hereditary nonpolyposis colorectal cancer (Lynch syndrome). Whereas disruptive mutations are overtly pathogenic, the implications of missense mutations found in sporadic colorectal cancer patients or in suspected Lynch syndrome families are often unknown. Adequate genetic counseling of mutation carriers requires phenotypic characterization of the variant allele....
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