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Pedigree analysis of a POLD1 germline mutation in urothelial carcinoma shows a close association between different mutation burdens and overall survival

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Fig. 1

Data availability

All of the data from the analysis of the pedigree were included in our paper. The TCGA data can be downloaded from http://xena.ucsc.edu/. The COSMIC data can be downloaded from https://cancer.sanger.ac.uk/cosmic/download.

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Acknowledgements

We thank the patients and their family members for participating in our study. We gratefully acknowledge the excellent technical assistance provided by Ms Yuan Zhu, Ms Shanshan Zhang, and Ms Yayun Fang from Zhongnan Hospital of Wuhan University. This study was supported in part by grants from the Fundamental Research Funds for the Central Universities (2042018kf1040), the Chinese Central Special Fund for Local Science and Technology Development of Hubei Province (2018ZYYD023), the Science and Technology Department of Hubei Province Key Project (2018ACA159), and the Wuhan Science and Technology Bureau Key Project (2018061005132294). The funders had no role in the study design, data collection and analysis, decision to publish, or preparation of the paper.

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Author notes

  1. These authors contributed equally: Yejinpeng Wang, Lingao Ju

Authors and Affiliations

  1. Department of Urology, Zhongnan Hospital of Wuhan University, Wuhan, China

    Yejinpeng Wang, Yu Xiao & Xinghuan Wang

  2. Department of Biological Repositories, Zhongnan Hospital of Wuhan University, Wuhan, China

    Lingao Ju, Kaiyu Qian & Yu Xiao

  3. Human Genetic Resources Preservation Center of Hubei Province, Wuhan, China

    Lingao Ju, Kaiyu Qian & Yu Xiao

  4. Department of Urology, The Central Hospital of Enshi Tujia and Miao Autonomous Prefecture, Enshi, China

    Zicheng Guo & Hongbo Chen

  5. Euler Technology, Beijing, China

    Yi Zhang

Authors
  1. Yejinpeng Wang
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  2. Lingao Ju
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  3. Zicheng Guo
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  4. Kaiyu Qian
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  5. Hongbo Chen
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  6. Yi Zhang
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  7. Yu Xiao
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  8. Xinghuan Wang
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Contributions

Y.W. and X.W. designed and performed the research, analyzed the data, and prepared the figures. Y.W., L.J., Z.G., K.Q., and Y.Z. performed and analyzed the research. L.J., Y.X., and X.W. supervised the study. Z.G., K.Q., and H.C. provided patient samples. Y.W. wrote the paper, and L.J. and Y.X. edited the paper. All authors approved the final version of the paper.

Corresponding authors

Correspondence to Yu Xiao or Xinghuan Wang.

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Competing interests

The authors declare no competing interests.

Ethics

Clinical, pathological, and follow-up data records for all BCa patients and their family members were collected (Table S1), and two pathologists were invited to independently confirm the histological diagnosis. Additional cancer patient samples were collected through clinical practice at the Zhongnan Hospital of Wuhan University. The study used human samples (urine, tissue section, and plasma) and was approved by the Institutional Ethics Review Committee (approval number: 2015029). Human sample preservation by the Zhongnan Hospital Biobank, the official member of the International Society for Biological and Environmental Repositories (https://irlocator.isber.org/details/60), was approved by the Ethics Committee (approval number: 2017038) and China Human Genetic Resources Management Office, Ministry of Science and Technology of China (approval number: 20171793). All BCa patients and family members provided written informed consent. All study procedures were performed in accordance with the ethical standards of the Institutional Ethics Review Committee.

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Wang, Y., Ju, L., Guo, Z. et al. Pedigree analysis of a POLD1 germline mutation in urothelial carcinoma shows a close association between different mutation burdens and overall survival. Cell Mol Immunol 18, 767–769 (2021). https://doi.org/10.1038/s41423-020-0425-8

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