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Open Access 01-01-2017 | Original Article

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

Authors: Katharina Wimmer, Andreas Beilken, Rainer Nustede, Tim Ripperger, Britta Lamottke, Benno Ure, Diana Steinmann, Tanja Reineke-Plaass, Ulrich Lehmann, Johannes Zschocke, Laura Valle, Christine Fauth, Christian P. Kratz

Published in: Familial Cancer | Issue 1/2017

Abstract

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 polyposis indicating that POLE mutation p.(Val411Leu) may confer a more severe phenotype than previously reported POLE and POLD1 germline mutations. The patient had multiple café-au-lait macules and a pilomatricoma mimicking the clinical phenotype of constitutional mismatch repair deficiency. We hypothesize that these skin features may be common to different types of constitutional DNA repair defects associated with polyposis and early-onset cancer.

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Title: A novel germline POLE mutation causes an early onset cancer prone syndrome mimicking constitutional mismatch repair deficiency
Authors: Katharina Wimmer
Andreas Beilken
Rainer Nustede
Tim Ripperger
Britta Lamottke
Benno Ure
Diana Steinmann
Tanja Reineke-Plaass
Ulrich Lehmann
Johannes Zschocke
Laura Valle
Christine Fauth
Christian P. Kratz
Publication date: 01-01-2017
Publisher: Springer Netherlands
Published in: Familial Cancer / Issue 1/2017
Print ISSN: 1389-9600
Electronic ISSN: 1573-7292
DOI: https://doi.org/10.1007/s10689-016-9925-1

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