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Current clinical criteria for Lynch syndrome are not sensitive enough to identify MSH6 mutation carriers

BACKGROUND: Reported prevalence, penetrance and expression of deleterious mutations in the mismatch repair (MMR) genes, MLH1, MSH2, MSH6 and PMS2, may reflect differences in the clinical criteria used to select families for DNA testing. The authors have previously reported that clinical criteria are...

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Detalles Bibliográficos
Autores principales: Sjursen, Wenche, Haukanes, Bjørn Ivar, Grindedal, Eli Marie, Aarset, Harald, Stormorken, Astrid, Engebretsen, Lars F, Jonsrud, Christoffer, Bjørnevoll, Inga, Andresen, Per Arne, Ariansen, Sarah, Lavik, Liss Anne S, Gilde, Bodil, Bowitz-Lothe, Inger Marie, Mæhle, Lovise, Møller, Pål
Formato: Texto
Lenguaje:English
Publicado: BMJ Group 2010
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2976029/
https://www.ncbi.nlm.nih.gov/pubmed/20587412
http://dx.doi.org/10.1136/jmg.2010.077677

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