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Sitapriya Moorthi



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    FP12 - Tumor Biology and Systems Biology - Basic and Translational Science (ID 188)

    • Event: WCLC 2020
    • Type: Posters (Featured)
    • Track: Tumor Biology and Systems Biology - Basic and Translational Science
    • Presentations: 1
    • Moderators:
    • Coordinates: 1/28/2021, 00:00 - 00:00, ePoster Hall
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      FP12.12 - Lung Cancer in Women Never-Smokers: A Genomics Perspective of the Women’s Health Initiative (WHI) Cohort (ID 3531)

      00:00 - 00:00  |  Presenting Author(s): Sitapriya Moorthi

      • Abstract
      • Presentation
      • Slides

      Introduction

      Lung cancer is the leading cause of cancer-related deaths worldwide. Although lung cancer is primarily attributed to tobacco consumption, the number of lung cancer cases in never-smokers (LCNS), defined as lifetime consumption of less than 100 cigarettes, is increasing. Currently, 24% of lung cancer cases in women and 17% of lung cancer cases in men are in individuals who have never smoked, the majority of which are adenocarcinomas. In fact, if considered as a separate class of cancer, LCNS would be the 7th highest cause of cancer related mortality worldwide. LCNS is more common among women and is 3-4-fold more common among Asian women (age-adjusted). Thus far, the majority of tumor genome-wide sequencing efforts in lung cancer have been focused on patient cohorts with a smoking history. We know that LCNS is distinct from lung adenocarcinoma found in smokers at the genetic level, however large gaps in our understanding of this population persist. Through a unique collaboration with the Women’s Health Initiative (WHI) we now have access to a large repository of tumor tissue from LCNS patients. We have performed exome-sequencing on this cohort and here we describe novel mutations, structural variants and copy number changes in this cohort.

      Methods

      Whole-exome sequencing of 75 tumor-normal pairs was performed. Mutations were identified for the entire cohort using a consensus dual-caller and filtering methodology. Variants were then analyzed to identify genes with significant mutations using MutSig2CV. Structural variant analysis was performed using SvABA and copy number analysis was performed using TITAN. Finally, we perform correlative analysis of mutations with the metadata curated by the WHI and highlight key features of this cohort.

      Results

      Our mutational analysis reveals showed that there is an enrichment of known oncogenes including KRAS, EGFR and TP53. Additionally, we identified mutations in STK11. Here we describe novel genes and mutations previously unknown to occur in LCNS cohort and describe their potential functional implications. We also report novel structural variants and copy number alterations.

      Conclusion

      Mutational analysis of our LCNS cohort reveals that this cohort in general has a lower tumor mutational burden compared to their control cohort with a history of smoking. Additionally, we find that this cohort has mutations that have been previously reported in studies in LCNS patients. However, the existence of novel mutations and structural alterations may offer a unique opportunity for future target identification and therapeutic intervention.

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