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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Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: BMJ Group 2010
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Original Article
Accesso online: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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