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New insights into POLE and POLD1 germline mutations in familial colorectal cancer and polyposis

5 Feb 2014

Abstract excerpt

Germline mutations in DNA polymerase ɛ (POLE) and δ (POLD1) have been recently identified in families with multiple colorectal adenomas and colorectal cancer (CRC). All reported cases carried POLE c.1270C>G (p.Leu424Val) or POLD1 c.1433G>A (p.Ser478Asn) mutations. Due to the scarcity of cases reported so far, an accurate clinical phenotype has not been defined. We aimed to assess the prevalence of these recurrent...

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PMID: 24501277
DOI: 10.1093/hmg/ddu058

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