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Germline and somatic polymerase ε and δ mutations define a new class of hypermutated colorectal and endometrial cancers.

Abstract:

Polymerases ε and δ are the main enzymes that replicate eukaryotic DNA. Accurate replication occurs through Watson-Crick base pairing and also through the action of the polymerases' exonuclease (proofreading) domains. We have recently shown that germline exonuclease domain mutations (EDMs) of POLE and POLD1 confer a high risk of multiple colorectal adenomas and carcinoma (CRC). POLD1 mutations also predispose to endometrial cancer (EC). These mutations are associated with high penetrance and ...

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Publication status:
Published

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Publisher copy:
10.1002/path.4185

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Institution:
University of Oxford
Department:
Oxford, MSD, Clinical Medicine, WTC Human Genetics
Journal:
The Journal of pathology
Volume:
230
Issue:
2
Pages:
148-153
Publication date:
2013-06-05
DOI:
EISSN:
1096-9896
ISSN:
0022-3417
URN:
uuid:d13fbf7c-40f6-4de0-80c2-eca67c72a6ab
Source identifiers:
387111
Local pid:
pubs:387111

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