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

Creator:

Northern Ireland Cancer Network (NICaN)

Type: Article
Region: Republic of Ireland
Northern Ireland
Description:

Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomasMany 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 penetrance, and POLD1 mutation was also associated with endometrial cancer predisposition. .

Date:

30/12/2012

Rights: Public
Suggested citation:

Northern Ireland Cancer Network (NICaN). (2012) Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas [Online]. Available from: http://www.thehealthwell.info/node/391852 [Accessed: 17th October 2018].

  

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Contributor:

Northern Ireland Cancer Network (NICaN)
 
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