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Hong Liu



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    P2.03 - Biology (ID 162)

    • Event: WCLC 2019
    • Type: Poster Viewing in the Exhibit Hall
    • Track: Biology
    • Presentations: 1
    • Moderators:
    • Coordinates: 9/09/2019, 10:15 - 18:15, Exhibit Hall
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      P2.03-21 - MUC16 Germline Mutations May Associate with Inherited Lung Cancer (ID 2150)

      10:15 - 18:15  |  Author(s): Hong Liu

      • Abstract
      • Slides

      Background

      Study of inherited cancer may facilitate the understanding of the molecular mechanism of tumorigenesis. Though sporadic reports have shown that mutations in EGFR or ERBB2 may associate with familial lung cancer, the knowledge of the genetic causes for inherited lung cancer is still limited.

      Method

      Genomic DNA (gDNA) from cancer patients or healthy people were extracted from whole blood samples and analyzed using a 500-gene next generation sequencing (NGS) panel. Variants identified by NGS panel were confirmed by Sanger sequencing.

      Result

      In November 2017, four siblings in a Chinese family were diagnosed with lung adenocarcinomas. Additionally, the 5th sibling in the family had prostate cancer. A questionnaire for the family did not reveal significant environmental or habitual reasons leading to cancer in the family, suggestive of possible genetic causes. NGS analysis for gDNA samples indicated all 4 siblings with lung cancer had 3 heterozygous alleles of SNPs in MUC16, namely rs754254000, rs754856910, and rs746152510. In contrast, the sibling with prostate cancer was wild-type for all of the three alleles (Figure below). The NGS results were then confirmed by Sanger sequencing. The three germline mutations in MUC16 all had very low population minor allele frequency (below 0.1%). We further analyzed the gDNA of the children in the family, and detected the 3 heterozygous SNPs in a child whose parent had lung cancer, whereas both children of the prostate cancer patient were wild-type for the 3 MUC16 alleles. Taken together, these results are consistent with a hypothesis that germline mutation of rs754254000, rs754856910, and rs746152510 may predispose the family members to lung cancer. MUC16, also known as CA125, is a biomarker for ovarian cancer, and also shown to be involved in tumorigenesis and metastasis of lung cancer cells. The child with heterozygous SNPs of MUC16 need be cautious in the future routine check-ups.

      muc16 3 snp.png

      Conclusion

      In this study, we have demonstrated that germline mutations of MUC16 may associate with inherited lung adenocarcinomas, which warrants further mechanistic study of MUC16 gene in lung cancer.

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