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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...
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 |
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Formato: | Texto |
Lenguaje: | English |
Publicado: |
BMJ Group
2010
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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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