A novel germline POLE mutation causes an early onset cancer prone syndrome mimicking constitutional mismatch repair deficiency

In a 14-year-old boy with polyposis and rectosigmoid carcinoma, we identified a novel POLE germline mutation, p.(Val411Leu), previously found as recurrent somatic mutation in ‘ultramutated’ sporadic cancers. This is the youngest reported cancer patient with polymerase proofreading-associated polypos...

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Detaylı Bibliyografya
Yayımlandı:Fam Cancer
Asıl Yazarlar: Wimmer, Katharina, Beilken, Andreas, Nustede, Rainer, Ripperger, Tim, Lamottke, Britta, Ure, Benno, Steinmann, Diana, Reineke-Plaass, Tanja, Lehmann, Ulrich, Zschocke, Johannes, Valle, Laura, Fauth, Christine, Kratz, Christian P.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Springer Netherlands 2016
Konular:
Original Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC5243902/
https://ncbi.nlm.nih.gov/pubmed/27573199
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10689-016-9925-1
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