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Article

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

21 Dec 2012

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Share to Cancer, Lipids, and Metabolism
Share to Colorectal Cancer Treatments and Studies
Share to Genetic factors in colorectal cancer

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Identifiers

PMID: 23263490
DOI: 10.1038/ng.2503

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Related research

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Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomasPMID 23263490Read ↗

Polymerase proofreading-associated polyposis: a new, dominantly inherited syndrome of hereditary colorectal cancer predisposition.Semantic proximity Read ↗

Risk of colorectal cancer for carriers of a germ-line mutation in POLE or POLD1.Semantic proximity Read ↗

Role of POLE and POLD1 in familial cancer.Semantic proximity Read ↗

Frequency and phenotypic spectrum of germline mutations in POLE and seven other polymerase genes in 266 patients with colorectal adenomas and carcinomas.Semantic proximity Read ↗

New insights into POLE and POLD1 germline mutations in familial colorectal cancer and polyposisSemantic proximity Read ↗

POLE and POLD1 screening in 155 patients with multiple polyps and early-onset colorectal cancer.Semantic proximity Read ↗

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

Comparative Analysis of Somatic and Germline Polymerase Proofreading Deficiencies in Cancer: Molecular and Clinical ImplicationsSemantic proximity Read ↗

From Subtle to Severe: Multiple Mechanisms Impair POLE and POLD1 Function leading to Distinct Effects on Mutation RatesSemantic proximity Read ↗

POLE and POLD1 mutations in 529 kindred with familial colorectal cancer and/or polyposis: review of reported cases and recommendations for genetic testing and surveillance.Semantic proximity Read ↗

Immune checkpoint inhibitors in POLE/POLD1 proofreading-deficient CRC: from molecular basis to clinical practice and future directions.Semantic proximity Read ↗

Exploring somatic mutations in POLE and POLD1: Their role in colorectal cancer pathogenesis and potential therapeutic strategiesSemantic proximity Read ↗

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