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Year | Number of Results |
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PubMed (cited) for id: 615083
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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.
Genet Med. 2016 Apr;18(4):325-32. doi: 10.1038/gim.2015.75. Epub 2015 Jul 2.
Genet Med. 2016.
PMID: 26133394
Free PMC article.
Review.
Germline variants in POLE are associated with early onset mismatch repair deficient colorectal cancer.
Elsayed FA, Kets CM, Ruano D, van den Akker B, Mensenkamp AR, Schrumpf M, Nielsen M, Wijnen JT, Tops CM, Ligtenberg MJ, Vasen HF, Hes FJ, Morreau H, van Wezel T.
Elsayed FA, et al.
Eur J Hum Genet. 2015 Aug;23(8):1080-4. doi: 10.1038/ejhg.2014.242. Epub 2014 Nov 5.
Eur J Hum Genet. 2015.
PMID: 25370038
Free PMC article.
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New insights into POLE and POLD1 germline mutations in familial colorectal cancer and polyposis.
Valle L, Hernández-Illán E, Bellido F, Aiza G, Castillejo A, Castillejo MI, Navarro M, Seguí N, Vargas G, Guarinos C, Juarez M, Sanjuán X, Iglesias S, Alenda C, Egoavil C, Segura Á, Juan MJ, Rodriguez-Soler M, Brunet J, González S, Jover R, Lázaro C, Capellá G, Pineda M, Soto JL, Blanco I.
Valle L, et al.
Hum Mol Genet. 2014 Jul 1;23(13):3506-12. doi: 10.1093/hmg/ddu058. Epub 2014 Feb 5.
Hum Mol Genet. 2014.
PMID: 24501277
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Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas.
Palles C, Cazier JB, Howarth KM, Domingo E, Jones AM, Broderick P, Kemp Z, Spain SL, Guarino E, Salguero I, Sherborne A, Chubb D, Carvajal-Carmona LG, Ma Y, Kaur K, Dobbins S, Barclay E, Gorman M, Martin L, Kovac MB, Humphray S; CORGI Consortium; WGS500 Consortium; Lucassen A, Holmes CC, Bentley D, Donnelly P, Taylor J, Petridis C, Roylance R, Sawyer EJ, Kerr DJ, Clark S, Grimes J, Kearsey SE, Thomas HJ, McVean G, Houlston RS, Tomlinson I.
Palles C, et al.
Nat Genet. 2013 Feb;45(2):136-44. doi: 10.1038/ng.2503. Epub 2012 Dec 23.
Nat Genet. 2013.
PMID: 23263490
Free PMC article.
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