Optimization of the diagnosis of inherited colorectal cancer using NGS and capture of exonic and intronic sequences of panel genes-Reference-Cited by-同舟云学术

Optimization of the diagnosis of inherited colorectal cancer using NGS and capture of exonic and intronic sequences of panel genes

Published:2018-07-02 Issue:11 Volume:26 Page:1597-1602
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Baert-Desurmont Stéphanie,Coutant Sophie,Charbonnier Françoise,Macquere Pierre,Lecoquierre François,Schwartz Mathias^ORCID,Blanluet Maud,Vezain Myriam,Lanos Raphaël,Quenez Olivier,Bou Jacqueline,Bouvignies Emilie,Fourneaux Steeve,Manase Sandrine,Vasseur Stéphanie,Mauillon Jacques,Gerard Marion,Marlin Régine,Bougeard Gaëlle,Tinat Julie,Frebourg Thierry,Tournier Isabelle

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/s41431-018-0207-2.pdf

Reference17 articles.

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3. Palles C, Cazier JB, Howarth KM, et al. Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas. Nat Genet. 2013;45:136–44.

4. Weren RD, Ligtenberg MJ, Kets CM, et al. A germline homozygous mutation in the base-excision repair gene NTHL1 causes adenomatous polyposis and colorectal cancer. Nat Genet. 2015;47:668–71.

5. Adam R, Spier I, Zhao B, et al. Exome sequencing identifies biallelic MSH3 germline mutations as a recessive subtype of colorectal adenomatous polyposis. Am J Hum Genet. 2016;99:337–51.

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