Genetic analyses of proposed new ovarian cancer predisposing gene

Status Completed
Start date 2018
Location Quebec
Researcher Tonin, Patricia
Associated institution The Research Institute of the McGill University Health Centre and McGill University
Summary

A significant proportion of hereditary ovarian cancer cases cannot be explained by BRCA1 or BRCA2 mutations. This project aimed to identify new susceptibility genes by focusing on DNA repair pathways. Genetic analyses identified a rare variant in the FANCI gene, more frequent in the French-Canadian population and associated with impaired DNA repair. Frequency analyses using datasets including CARTaGENE suggest this variant may contribute to cancer risk. The findings highlight the role of multiple rare variants and improve understanding of the genetic basis of ovarian cancer.

Themes
  • Cancer
  • Genetics and genomics
Data types
  • Genetic data
  • Questionnaire data

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