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Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas.

Abstract:

Many individuals with multiple or large colorectal adenomas or early-onset colorectal cancer (CRC) have no detectable germline mutations in the known cancer predisposition genes. Using whole-genome sequencing, supplemented by linkage and association analysis, we identified specific heterozygous POLE or POLD1 germline variants in several multiple-adenoma and/or CRC cases but in no controls. The variants associated with susceptibility, POLE p.Leu424Val and POLD1 p.Ser478Asn, have high penetranc...

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Publication status:
Published

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Publisher copy:
10.1038/ng.2503

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Institution:
University of Oxford
Division:
MSD
Department:
Oncology
Role:
Author
Journal:
Nature genetics More from this journal
Volume:
45
Issue:
2
Pages:
136-144
Publication date:
2013-02-01
DOI:
EISSN:
1546-1718
ISSN:
1061-4036

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