In this thesis we present a number of studies related to the classification of missense mutations in Lynch syndrome and we tested an alternative, tumourindependent approach for the identification of mismatch repair (MMR) mutation carriers.
We show that most of the variations do not cause or contribute to the disease.
Furthermore, we made a public available data base which is filled with all reported MMR variants for which a functional test had been performed.
Finally, we tested an alternative, tumor independent approach for the identification of mismatch repair (MMR) gene mutation carriers.
As the expression levels of the MMR genes vary enormously, we can not with high certainty identity MMR gene mutation carriers.
Date and time: 27 februari 2008, 16.15 uur
PhD: J. Ou
Dissertation: Functional analysis and carrier detection of mismatch repair gene mutations
Promotores: prof. R.M.W. Hofstra, prof. J.H. Kleibeuker
Faculty: medical sciences
Information: via Joost Wessels, UMCG, Communication, tel. 050-361 4464 / 361 2200, e-mail: firstname.lastname@example.org
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