Ontology highlight
ABSTRACT:
SUBMITTER: Wimmer K
PROVIDER: S-EPMC5243902 | biostudies-literature | 2017 Jan
REPOSITORIES: biostudies-literature
Familial cancer 20170101 1
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 piloma ...[more]