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Section of Genetics

Genetic Cancer Susceptibility Group

Current Research Topics

  1. Identify the genes involved in lung cancer susceptibility. GCS is using exome sequencing-based approaches and very large imputation-based genome-wide association studies (GWAS) to investigate genetic susceptibility to lung cancer. GCS also studies the lung tumours that arise in patients who have inherited lung cancer susceptibility alleles, to explore the impact that genetic susceptibility has on the subsequent tumour phenotype (supported by the United States National Cancer Institute [NCI], the French Institut National du Cancer [INCa], and France Génomique). GCS has similar interests in other types of cancer, particularly lymphomas.

  2. Explore the mechanisms by which genetic variants influence the carcinogenic process. Nasopharyngeal cancer is common in southern and eastern Asia, whereas it is relatively rare in Europe and North America. It has been linked with genetic susceptibility, consumption of salted fish (and nitrosamines), and exposure to Epstein–Barr virus (EBV). This project aims to investigate how these three factors interact to influence the carcinogenic process (supported by the World Cancer Research Fund).

  3. Test the utility of circulating tumour DNA (ctDNA) as a biomarker for detecting cancer at early stages. Using and further expanding the genomic tools that GCS has developed for detecting low-abundance ctDNA mutations, GCS assesses the potential of tumour-derived alterations as an early biomarker in urinary bladder cancer and oesophageal cancer, and explores the prevalence of ctDNA in apparently healthy individuals and its characteristics (supported by the French INCa and La Ligue Nationale contre le Cancer, and the National Institute for Medical Research Development, Islamic Republic of Iran).

  4. Multi-omic characterization of rare tumours, (, with a current focus in two areas:
    • Molecular characterization of malignant pleural mesothelioma (MESOMICS). This project aims to compile a comprehensive molecular characterization of malignant mesothelioma. It is hoped that this may lead to a more comprehensive understanding of the disease, which will help improve its diagnosis, identify potential markers for early detection, and ultimately provide patients with more promising therapeutic options (supported by the French INCa and La Ligue Nationale contre le Cancer, and the French national mesothelioma biobank).

    • Unveil the molecular pathways underlying the development of pulmonary carcinoids (LungNENomics). GCS is working within a multicentre study across 16 centres and 7 countries to put together material for a genomics study of these rare and understudied lung tumours. The main goal of this project is to generate comprehensive, multidisciplinary, and multi-omics datasets that will shed light on the pathogenesis of pulmonary carcinoids and that will thereby improve the diagnosis and clinical management of these diseases (supported by the United States National Institutes of Health, the French INCa and La Ligue Nationale contre le Cancer, and the Dutch Cancer Society).

  5. Apply pathology in genetics and genomics studies. GCS also works towards optimizing morphological review, integrating and adapting sampling methods to ensure that the relevant tissue types are selected for genomic studies running across the Agency. As an example, GCS coordinates and manages the whole pathology workflow for the Mutographs project. This includes contributing to the development of operating protocols for multicentre sample collection, defining precise morphological criteria to be evaluated by the expert panel of pathologists via online review, and facilitating the linkage between morphological features and genomic findings. GCS also leads training initiatives in pathology within the Agency, as well as training in standardized sampling methods in several low- and middle-income countries.

  6. Develop computational biology tools. GCS aims to develop and implement the bioinformatics resources to analyse the genomics data and to then integrate these multi-layered genomics data into GCS studies. Sharing of bioinformatics pipelines takes place across IARC groups, and GCS is involved in coordinating the activities of the bioinformaticians nested within IARC’s scientific groups. This focuses on ease of use, reproducibility, and portability, enabling analyses to be performed easily on personal computers, on high-performance computing clusters, or in the cloud. These developments are shared with the wider community as open-source projects ( This aspect is especially important to ensure that scientists from low- and middle-income countries can also benefit from IARC developments in bioinformatics, and GCS is working towards identifying how IARC can provide additional training in this context.



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