Article
A mutation in POLE predisposing to a multi-tumour phenotype.
International journal of oncology - 1 Jul 2014
Rohlin Anna, Zagoras Theofanis, Nilsson Staffan, Lundstam Ulf, Wahlström Jan, Hultén Leif, Martinsson Tommy, Karlsson Göran B, Nordling Margareta
Abstract excerpt
Somatic mutations in the POLE gene encoding the catalytic subunit of DNA polymerase ε have been found in sporadic colorectal cancers (CRCs) and are most likely of importance in tumour development and/or progression. Recently, families with dominantly inherited colorectal adenomas and colorectal cancer were shown to have a causative heterozygous germline mutation in the proofreading exonuclease domain of POLE. The...
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