Article
PMS2 mutations in childhood cancer.
Journal of the National Cancer Institute - 1 Mar 2006
De Vos Michel, Hayward Bruce E, Charlton Ruth, Taylor Graham R, Glaser Adam W, Picton Susan, Cole Trevor R, Maher Eamonn R, McKeown Carole M E, Mann Jill R, Yates John R, Baralle Diana, Rankin Julia, Bonthron David T, Sheridan Eamonn
Abstract excerpt
Until recently, the PMS2 DNA mismatch repair gene has only rarely been implicated as a cancer susceptibility locus. New studies have shown, however, that earlier analyses of this gene have had technical limitations and also that the genetic behavior of mutant PMS2 alleles is unusual, in that, unlike MLH1 or MSH2 mutations, PMS2 mutations show low heterozygote penetrance. As a result, a dominantly inherited cancer...
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