Characterization of somatic mutations of colorectal tumor in a patient with concurrent <em>APC</em> and <em>MLH1</em> germline mutations

Yunsheng Cheng; Yanyan Xu; Xiaopeng Zhang; Jian Qi; Jialiang Wang; Yanzhe Liu; Kun Wan; YanWei Liu; Liang Yu; Hongzhi Wang; Jinfu Nie; Bo Hong; Yong Wang

doi:10.1016/j.gendis.2023.02.017

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Characterization of somatic mutations of colorectal tumor in a patient with concurrent APC and MLH1 germline mutations

Short communication | 更新时间：2024-02-04

- Characterization of somatic mutations of colorectal tumor in a patient with concurrent APC and MLH1 germline mutations
- Genes & Diseases Vol. 1, Issue 6, Pages: 2245-2247(2023)
- 作者机构：
  
  1. Department of General Surgery, The Second Hospital of Anhui Medical University,Anhui,Hefei,China,230601
  2. Anhui Province Key Laboratory of Medical Physics and Technology, Institute of Health and Medical Technology, Hefei Institutes of Physical Science, Chinese Academy of Sciences,Anhui,Hefei,China,230031
  3. University of Science and Technology of China,Anhui,Hefei,China,230026
  4. School of Basic Medical Sciences, Anhui Medical University,Anhui,Hefei,China,230032
  5. Casgenome Medicine (Hefei) Ltd,Anhui,Hefei,China,230031
  6. Hefei Cancer Hospital, Chinese Academy of Sciences,Anhui,Hefei,China,230031
- 作者简介：
- 基金信息：
- DOI：10.1016/j.gendis.2023.02.017
  CLC：
- Published：2023，
  
  Published Online：1 November 2023，
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Yunsheng Cheng, Yanyan Xu, Xiaopeng Zhang, et al. Characterization of somatic mutations of colorectal tumor in a patient with concurrent APC and MLH1 germline mutations. [J]. Genes & Diseases 1(6):2245-2247(2023)
DOI：

Yunsheng Cheng, Yanyan Xu, Xiaopeng Zhang, et al. Characterization of somatic mutations of colorectal tumor in a patient with concurrent APC and MLH1 germline mutations. [J]. Genes & Diseases 1(6):2245-2247(2023) DOI： 10.1016/j.gendis.2023.02.017.

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1 H.T. Lynch, A. de la ChapelleHereditary colorectal cancer N Engl J Med, 348 (10) (2003), pp. 919-932

2 A. Degasperi, X. Zou, T.D. Amarante, et al.Substitution mutational signatures in whole-genome-sequenced cancers in the UK population Science, 376 (6591) (2022) science.abl9283

3 L.B. Alexandrov, J. Kim, N.J. Haradhvala, et al.The repertoire of mutational signatures in human cancer Nature, 578 (7793) (2020), pp. 94-101

4 R. Scheenstra, F.E.M. Rijcken, J.J. Koornstra, et al.Rapidly progressive adenomatous polyposis in a patient with germline mutations in both the APC and MLH1 genes: the worst of two worlds Gut, 52 (6) (2003), pp. 898-899

5 A.R. Shoemaker, K.M. Haigis, S.M. Baker, et al.Mlh1 deficiency enhances several phenotypes of Apc(Min)/+ mice Oncogene, 19 (23) (2000), pp. 2774-2779

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