Germline mutation p.N363K in POLE is associated with an increased risk of colorectal cancer and giant cell glioblastoma-Reference-Cited by-同舟云学术

Germline mutation p.N363K in POLE is associated with an increased risk of colorectal cancer and giant cell glioblastoma

Published:2018-10-27 Issue:2 Volume:18 Page:173-178
ISSN:1389-9600
Container-title:Familial Cancer
language:en
Short-container-title:Familial Cancer

Author:

Vande Perre P.^ORCID,Siegfried A.,Corsini C.,Bonnet D.,Toulas C.,Hamzaoui N.,Selves J.,Chipoulet E.,Hoffmann J. S.,Uro-Coste E.,Guimbaud R.^ORCID

Publisher

Springer Science and Business Media LLC

Subject

Cancer Research,Genetics(clinical),Oncology,Genetics

Link

http://link.springer.com/content/pdf/10.1007/s10689-018-0102-6.pdf

Reference11 articles.

1. Palles C, Cazier J-B, Howarth KM et al (2013) Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas. Nat Genet 45(2):136–144. https://doi.org/10.1038/ng.2503

2. Rayner E, van Gool IC, Palles C et al (2016) A panoply of errors: polymerase proofreading domain mutations in cancer. Nat Rev Cancer 16(2):71–81. https://doi.org/10.1038/nrc.2015.12

3. Heitzer E, Tomlinson I (2014) Replicative DNA polymerase mutations in cancer. Curr Opin Genet Dev 24:107–113. https://doi.org/10.1016/j.gde.2013.12.005

4. Rohlin A, Zagoras T, Nilsson S et al (2014) A mutation in POLE predisposing to a multi-tumour phenotype. Int J Oncol 45(1):77–81. https://doi.org/10.3892/ijo.2014.2410

5. Boland CR, Thibodeau SN, Hamilton SR et al (1998) A National Cancer Institute Workshop on Microsatellite Instability for cancer detection and familial predisposition: development of international criteria for the determination of microsatellite instability in colorectal cancer. Cancer Res 58(22):5248–5257

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