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M. Kanwal

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    Poster Display session (Friday) (ID 65)

    • Event: ELCC 2018
    • Type: Poster Display session
    • Track:
    • Presentations: 1
    • Moderators:
    • Coordinates: 4/13/2018, 12:30 - 13:00, Hall 1
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      63P - Prevalence and spectrum of germline mutations among patients with familial lung cancer (ID 228)

      12:30 - 13:00  |  Presenting Author(s): M. Kanwal

      • Abstract

      Although lung cancer is generally thought to be environmentally provoked but rare familial forms of lung cancer has been described previously, suggesting there may be genetic susceptibility factors. However, due to the apparently sporadic nature of lung cancer, little attention has been paid to the role of genetic predisposition in lung cancer. To address this, we used FLC samples obtained from the Chinese population in highly air-polluted regions to screen for novel germline mutations in lung cancer.

      Through a whole genome sequencing (WGS) analysis of the nine subjects (four lung cancer patients and five normal family members of FLC), we obtained a whole genome dataset of DNA alterations in FLC samples. A total of 1218 genes were identified with mutations of multiple types. Subsequently, the top 12 highly mutated genes were selected for validation by PCR and DNA sequencing in an expanded sample set including FLC, sporadic lung cancer, and healthy population.

      Mutations of the five genes (ARHGEF5, ANKRD20A2, ZNF595, ZNF812, MYO18B) may be potential germline mutations of lung cancer. We also analyzed specific mutations within the 12 genes and found that some specific mutations within the MUC12, FOXD4L3 and FOXD4L5genes showed higher frequencies in the samples of FLC and/or lung cancer tissue, compared with the healthy population. Moreover, some genes with copy number variation may be potentially associated with a predisposition to lung cancer.

      Our study uncovered the mutation spectrum in FLC of the Chinese population. Insights from this study will help direct further efforts to enhance our understanding of genetic predisposition in lung cancer. The investigation of novel and known gene mutations detected by the present study may contribute to evaluate functional impacts of these mutations not only in FLC but in sporadic lung cancer as well.

      Clinical trial identification:

      Legal entity responsible for the study:

      National Science Foundation of China (81272617), the 973 Program (2011CB510104), and the Yunnan Province Science and Technology Department (Y103951111)

      All authors have declared no conflicts of interest.