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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Detalhes bibliográficos
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: BMJ Group 2010
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Original Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2976029/
https://ncbi.nlm.nih.gov/pubmed/20587412
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2010.077677
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