A novel germline POLE mutation causes an early onset cancer prone syndrome mimicking constitutional mismatch repair deficiency
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- 作者：Katharina Wimmer ; Andreas Beilken ; Rainer Nustede ; Tim Ripperger…
- 关键词：Polymerase proofreading ; associated polyposis ; Constitutional mismatch repair deficiency ; Café ; au ; lait macule ; Pilomatricoma ; Colon cancer
- 刊名：Familial Cancer
- 出版年：2017
- 出版时间：January 2017
- 年：2017
- 卷：16
- 期：1
- 页码：67-71
- 全文大小：692KB
- 刊物类别：Medicine
- 刊物主题：Cancer Research; Human Genetics; Epidemiology; Biomedicine, general;
- 出版者：Springer Netherlands
- ISSN：1573-7292
- 卷排序：16
文摘
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.