Article
Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency Syndrome.
Human mutation - 1 Nov 2016
van der Klift Heleen M, Mensenkamp Arjen R, Drost Mark, Bik Elsa C, Vos Yvonne J, Gille Hans J J P, Redeker Bert E J W, Tiersma Yvonne, Zonneveld José B M, García Encarna Gómez, Letteboer Tom G W, Olderode-Berends Maran J W, van Hest Liselotte P, van Os Theo A, Verhoef Senno, Wagner Anja, van Asperen Christi J, Ten Broeke Sanne W, Hes Frederik J, de Wind Niels, Nielsen Maartje, Devilee Peter, Ligtenberg Marjolijn J L, Wijnen Juul T, Tops Carli M J
Abstract excerpt
Monoallelic PMS2 germline mutations cause 5%-15% of Lynch syndrome, a midlife cancer predisposition, whereas biallelic PMS2 mutations cause approximately 60% of constitutional mismatch repair deficiency (CMMRD), a rare childhood cancer syndrome. Recently improved DNA- and RNA-based strategies are applied to overcome problematic PMS2 mutation analysis due to the presence of pseudogenes and frequent gene conversion...
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