Inserm Unit U1245 - Genetic predisposition to cancer

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Contact

  • Manager: Dr Dominique VAUR
  • Laboratory manager: Fabrice GUICHARD
  • Secretariat: 02 31 45 50 54

The team

The Laboratoire de Biologie et de Génétique des Cancers (LBGC ) team conducts research projects in the field of cancer genetics as part of INSERM Unit U1245 (oncogenetics). The laboratory is home to the SéSAME high-throughput sequencing platform, and relies on a team of bioinformaticians for dedicated developments in this field.

  • Manager: Dr Dominique VAUR
  • Laboratory manager: Fabrice GUICHARD
  • Genetics expert: Dr Nicolas GOARDON
  • Biologists : Dr Flavie BOULOUARD, Dr Laurent CASTERA, Dr Sophie KRIEGER, Dr Raphaël LEMAN, Dr Agathe RICOU,
  • IE: Alexandre ATKINSON, Thibault LAVOLE, I CHENTILLI

Research activities

The Cancer Biology and Genetics Laboratory is part of the "genetic predisposition to cancer" team of INSERM Unit U1245 "Genomic and Personalized Medicine in Cancer and Neurological disorders"(https://hal-normandie-univ.archives-ouvertes.fr/GPMCND and https://irib.univ-rouen.fr/index.php?info=entites&id=69 ). In this capacity, he leads research projects in the field of hereditary cancer genetics.

The projects developed by the team as part of INSERM Unit U1245 focus mainly on the search for "missing heredity", i.e. :

  • Exploring the genetic determinism of breast and ovarian cancer: Study of the genetic and molecular heterogeneity of hereditary forms of breast and ovarian cancer.
  • Studying the contribution of splicing mutations in genes involved in breast and ovarian cancer predisposition

Technical resources

The laboratory houses the "SéSAME" (Séquençage pour la Santé, l'Agronomie, la Mer et l'Environnement) high-throughput sequencing platform in Lower Normandy, which is equipped with :

  • Two Illumina high-throughput sequencers 
  • Two STAR high-throughput robots (Hamilton)
  • A covaris E220 sound level meter
  • A tapestation
  • QIASymphony automatic nucleic acid extraction system (Qiagen)
  • A 3500 capillary sequencer (Thermo Fisher)
  • A dedicated computing farm and storage servers for bioinformatics (576 cores, 3,000 GB of memory and 200 TB of storage).

Results

The laboratory's research into hereditary cancers has improved our understanding of the molecular mechanisms involved in hereditary predisposition to breast and ovarian cancers. For example, this work has enabled us to develop bioinformatics tools to better study the impact of genetic variants on RNA splicing. We have thus been able to classify many variations of unknown significance as genuine pathogenic variations that can be used for genetic counselling.

He intends to extend these studies to other genes and other regions of the genome not yet explored, using new techniques (long-read sequencing, functional tests, etc.) to discover new mechanisms explaining the missing heredity.

Partners

At regional level :

  • Rouen University Hospital,
  • IRIB Institute for Research and Innovation in Biomedicine Normandy Rouen
  • UMR 1086: Interdisciplinary research unit for cancer prevention and treatment - ANTICIPE
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