The effect of genotypes and parent of origin on cancer risk and age of cancer development in PMS2 mutation carriers.
Manon SuerinkHeleen M van der KliftSanne W Ten BroekeOlaf M DekkersInge BernsteinGabriel Capellá MunarEncarna Gomez GarciaNicoline HoogerbruggeTom G W LetteboerFred H MenkoAnnika LindblomArjen MensenkampPal MollerTheo A van OsNils RahnerBert J W RedekerM J W Olderode-BerendsMaran OlderodeLiesbeth SpruijtYvonne J VosAnja WagnerHans MorreauFrederik J HesHans F A VasenCarli M TopsJuul T WijnenMaartje NielsenPublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2015)
PMS2 mutation carriers with retention of RNA expression developed CRC 9 years later than those with loss of RNA expression. If confirmed, this finding would justify a delay in surveillance for these cases. Cancer risk was not influenced by a parent-of-origin effect.Genet Med 18 4, 405-409.