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William D. Foulkes

William D. Foulkes, MB.BS, PhD

Cancer

Breast cancer, Cancer predisposition, DICER1 Tumour Predisposition Syndrome (DTPS), Founder populations, Gene discovery, Genetic testing, Genetic variants, Multiple primary tumours
  • Principal Investigator, Lady Davis Institute for Medical Research
  • Director of Medical Genetics, Jewish General Hospital
  • Distinguished James McGill Professor, Departments of Human Genetics, Medicine and Oncology; Departmental Chair of Human Genetics, McGill University

Contact details

(514) 340-8222 ext. 23213
william.foulkes@mcgill.ca

Snapshot

The Foulkes laboratory studies genetic susceptibility to cancer, with a focus on identifying genetic variants that increase cancer risk in patients and families where no definitive genetic lesions are identified clinically. The work performed in the lab is often closely linked to individual patients seen in the medical genetics clinic by Pr Foulkes or collaborators.

Over the past 25+ years, the lab’s focus has included gene and allele discovery for some common diseases such as breast, ovarian and colorectal cancer, as well as the study of founder mutations in Quebec populations. Currently, the lab’s primary research focus is the study of DICER1 Tumour Predisposition Syndrome (previously known as DICER1 syndrome), a topic for which it has become a leading research group internationally. Other ongoing research interests include gene discovery in multiple primary tumour cases and studies on the feasibility and desirability of universal genetic testing.

Important Links :

See William D. Foulkes' publications on PubMed

Major Research Activities

Our research program aims to identify the genetic lesions that increase the risk for cancer development in individuals and families. We use both a personalized approach, where we perform genome-wide analyses of single individuals or families to correlate genotypes and phenotypes, as well as molecular approaches, where we study the impact of genetic lesions on cellular processes to assess the pathogenic potential of genetic variants.

 

The specific research areas in the laboratory include:

  • DICER1 tumour predisposition syndrome (DTPS): Since 2010, our group contributed several manuscripts to the description of the types of germline and somatic mutations leading to DTPS and the associated phenotypes in affected families. Current on-going projects use model systems to elucidate the impact of selected genetic variants on miRNA and mRNA profiles as the underlying mechanism causing DTPS-related tumours.
  • Rare familial and multiple primary tumours: Families / individuals with multiple rare or unusual cancer phenotypes have a high likelihood to carry a predisposing genetic lesion. We optimized the performance and analysis of whole exome sequencing of formalin-fixed, paraffin-embedded tumors to perform normal-tumour analyses of unsolved patients from the clinic and the literature.
  • Leveraging mutational signatures to identify cancer predisposition alleles: Cancers that are deficient in homologous DNA repair have unstable genomes filled with unrepaired mutations. These form a footprint, or signature, which can be recognized bioinformatically from tumour sequencing data. We are using bioinformatic strategies leveraging mutational signature data to identify driver variants in novel or unrecognized genes that cause cancer predisposition.

Recent Publications and References