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Cancer gene mutations in congenital pulmonary airway malformation patients

Jacob Shujui Hsu, Ruizhong Zhang, Fanny Yeung, Clara S.M. Tang, John K.L. Wong, Man-Ting So, Huimin Xia, Pak Sham, Paul K. Tam, Miaoxin Li, Kenneth K.Y. Wong, Maria-Mercè Garcia-Barcelo
ERJ Open Research 2019 5: 00196-2018; DOI: 10.1183/23120541.00196-2018
Jacob Shujui Hsu
1Dept of Psychiatry, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China
2Centre for Genomics Science, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China
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  • ORCID record for Jacob Shujui Hsu
Ruizhong Zhang
3Dept of Pediatric Surgery, Guangzhou Women and Children's Medical Center, Guangzhou, China
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Fanny Yeung
4Dept of Surgery, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China
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Clara S.M. Tang
4Dept of Surgery, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China
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John K.L. Wong
1Dept of Psychiatry, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China
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Man-Ting So
4Dept of Surgery, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China
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Huimin Xia
3Dept of Pediatric Surgery, Guangzhou Women and Children's Medical Center, Guangzhou, China
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Pak Sham
1Dept of Psychiatry, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China
2Centre for Genomics Science, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China
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Paul K. Tam
4Dept of Surgery, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China
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Miaoxin Li
1Dept of Psychiatry, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China
2Centre for Genomics Science, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China
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Kenneth K.Y. Wong
4Dept of Surgery, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China
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Maria-Mercè Garcia-Barcelo
4Dept of Surgery, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China
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  • ORCID record for Maria-Mercè Garcia-Barcelo
  • For correspondence: mmgarcia@hku.hk
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    FIGURE 1

    Genetic components shared by congenital pulmonary airway malformation (CPAM) patients. The nodes represent CPAM patients and the edges represent selected “shared mutated genes”. The yellow nodes indicate CPAM patients with mutations in SYNE1. The red font denotes patients with mutations in genes that cause lung abnormalities in mouse models. Nine out of 18 (50%) patients were covered in this genetic component network. #: compound heterozygous and/or digenic inheritance; <>: shared interacting genes.

Tables

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  • TABLE 1

    Genetic profile of the congenital pulmonary airway malformation (CPAM) patients included in this study

    Embedded Image

    PPI: protein–protein interaction (or genes encoding interacting proteins). Bold: same variant identified in cancer (somatic); underlined: same variant identified in lung cancer (somatic). Recurrently mutated gene pairs (encoding interacting proteins) are grouped under the same grey shade. Each shade represents a different group of genes encoding interacting proteins. #: gene causally implicated in any human cancer; ¶: mouse model with lung abnormalities; +: gene implicated in congenital human disorders with features shared with those commonly found in CPAM patients; §: gene mutated in >10% lung cancer samples; ƒ: gene implicated in lung development.

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      Please note: supplementary material is not edited by the Editorial Office, and is uploaded as it has been supplied by the author.

      Supplementary material 00196-2018_supp

      Supplementary table 00196-2018_supp_table

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    Cancer gene mutations in congenital pulmonary airway malformation patients
    Jacob Shujui Hsu, Ruizhong Zhang, Fanny Yeung, Clara S.M. Tang, John K.L. Wong, Man-Ting So, Huimin Xia, Pak Sham, Paul K. Tam, Miaoxin Li, Kenneth K.Y. Wong, Maria-Mercè Garcia-Barcelo
    ERJ Open Research Feb 2019, 5 (1) 00196-2018; DOI: 10.1183/23120541.00196-2018

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    Cancer gene mutations in congenital pulmonary airway malformation patients
    Jacob Shujui Hsu, Ruizhong Zhang, Fanny Yeung, Clara S.M. Tang, John K.L. Wong, Man-Ting So, Huimin Xia, Pak Sham, Paul K. Tam, Miaoxin Li, Kenneth K.Y. Wong, Maria-Mercè Garcia-Barcelo
    ERJ Open Research Feb 2019, 5 (1) 00196-2018; DOI: 10.1183/23120541.00196-2018
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