Retrospective Study of Genetic Testing Results Reveals Pathogenic Variants Beyond BRCA1/2 in Hereditary Breast and Ovarian Cancer Cases in New Brunswick: Implications for Future Care.

ABSTRACT:

Background

In Canada, founder variants in breast cancer susceptibility genes have been identified in populations residing in Québec and Newfoundland, thus demonstrating the value in characterizing the genetic profile of local populations for better clinical management. New Brunswick has a diverse, yet genetically unexplored population that includes founder Irish and Acadian ancestry, among others, and we hypothesized that this population could demonstrate potential enrichments for variants in breast cancer genes.

Methods

Health records were retrospectively analyzed for 445 cases referred to the genetics clinic in Moncton, New Brunswick, their molecular results were summarized and compared to allele frequencies from similar studies in Canada.

Results

No ethnic or age-r

SUBMITTER: Gauvin K 

PROVIDER: S-EPMC11795414 | biostudies-literature | 2025 Feb

REPOSITORIES: biostudies-literature