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

Rapid Communications | 更新时间：2024-02-04

- Characterization of somatic mutations of colorectal tumor in a patient with concurrent APC and MLH1 germline mutations
- Characterization of somatic mutations of colorectal tumor in a patient with concurrent APC and MLH1 germline mutations
- Genes & Diseases 2023年1卷第6期页码：2245-2247
- 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
  中图分类号：
- 纸质出版日期：2023，
  
  网络出版日期：2023-11-1，
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Characterization of somatic mutations of colorectal tumor in a patient with concurrent APC and MLH1 germline mutations[J]. Genes & Diseases, 2023,1(6):2245-2247.

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

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, 2023,1(6):2245-2247. 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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Characterization of somatic mutations of colorectal tumor in a patient with concurrent APC and MLH1 germline mutations

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

DOI：10.1016/j.gendis.2023.02.017

摘要

Abstract

关键词

Keywords

references