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Reply to: “Development of an MSI-positive colon tumor with aberrant DNA methylation in a PPAP patient”

Journal of Human Genetics volume 65, pages 513–514 (2020)Cite this article

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References

  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.

    CAS  Article  Google Scholar 

  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.

    CAS  Article  Google Scholar 

  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.

    CAS  Article  Google Scholar 

  5. Chubb D, Broderick P, Dobbins SE, Houlston RS. CanVar: a resource for sharing germline variation in cancer patients. F1000Res. 2016;5:2813.

    Article  Google Scholar 

  6. Alexandrov LB, Kim J, Haradhvala NJ, Huang MN, Ng AWT, Wu Y, et al. The repertoire of mutational signatures in human cancer. BioRxiv 322859; 2019. https://doi.org/10.1101/322859.

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Acknowledgements

Spanish Ministry of Science, Innovation and Universities, co-funded by FEDER funds—a way to build Europe—[SAF2016-80888-R], Instituto de Salud Carlos III [CIBERONC CB16/12/00234, Sara Borrell postdoctoral contract], Fundación Olga Torres, Bowel Cancer UK 18PG0010, and the EU COST Action CA17118.

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Affiliations

  1. Hereditary Cancer Program, Catalan Institute of Oncology, IDIBELL, Hospitalet de Llobregat, Barcelona, Spain

    Pilar Mur & Laura Valle

  2. Program in Molecular Mechanisms and Experimental Therapy in Oncology (Oncobell), IDIBELL, Hospitalet de Llobregat, Barcelona, Spain

    Pilar Mur & Laura Valle

  3. Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), Madrid, Spain

    Pilar Mur & Laura Valle

  4. Gastrointestinal Cancer Genetics Laboratory, Institute of Cancer and Genomic Sciences, University of Birmingham, Edgbaston, Birmingham, UK

    Claire Palles

  5. Edinburgh Cancer Research Centre, IGMM, University of Edinburgh, Edinburgh, UK

    Ian Tomlinson

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  1. Pilar Mur
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  2. Claire Palles
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  3. Ian Tomlinson
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  4. Laura Valle
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Correspondence to Laura Valle.

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Mur, P., Palles, C., Tomlinson, I. et al. Reply to: “Development of an MSI-positive colon tumor with aberrant DNA methylation in a PPAP patient”. J Hum Genet 65, 513–514 (2020). https://doi.org/10.1038/s10038-019-0701-6

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  • DOI: https://doi.org/10.1038/s10038-019-0701-6

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