Reply to: “Development of an MSI-positive colon tumor with aberrant DNA methylation in a PPAP patient”
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
http://www.nature.com/articles/s10038-019-0701-6.pdf
Reference6 articles.
1. Yamaguchi K, Shimizu E, Yamaguchi R, Imoto S, Komura M, Hatakeyama S, et al. Development of an MSI-positive colon tumor with aberrant DNA methylation in a PPAP patient. J Hum Genet. 2019;64:729–40.
2. Palles C, Cazier JB, Howarth KM, Domingo E, Jones AM, Broderick P, et al. Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas. Nat Genet. 2013;45:136–44.
3. Palles C, Latchford A, Valle L. Adenomatous polyposis syndromes: polymerase proofreading-associated polyposis. In: Valle L, Gruber SB, Capellá G, editors. Hereditary colorectal cancer. Genetic basis and clinical implications. Springer International Publishing AG; 2018.
4. Chubb D, Broderick P, Dobbins SE, Frampton M, Kinnersley B, Penegar S, et al. Rare disruptive mutations and their contribution to the heritable risk of colorectal cancer. Nat Commun 2016;7:11883.
5. Chubb D, Broderick P, Dobbins SE, Houlston RS. CanVar: a resource for sharing germline variation in cancer patients. F1000Res. 2016;5:2813.
Cited by 4 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. Recommendations for the classification of germline variants in the exonuclease domain of POLE and POLD1;Genome Medicine;2023-10-17
2. Unraveling the impact of a germline heterozygous POLD1 frameshift variant in serrated polyposis syndrome;Frontiers in Molecular Biosciences;2023-01-23
3. Solving the enigma of POLD1 p.V295M as a potential cause of increased cancer risk;European Journal of Human Genetics;2021-07-20
4. Role of POLE and POLD1 in familial cancer;Genetics in Medicine;2020-12
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