Nadia Bouhamdani

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

ABSTRACTBackgroundIn 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.MethodsHealth 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.ResultsNo ethnic or age‐related correlation for specific variants could be identified. However, BRCA1/2 variant frequency was lower than expected in the study group and variants in other susceptibility genes such as ATM and CHEK2 were higher when compared to similar studies.PerspectivesThis study demonstrates a distinct profile in hereditary breast cancer genetics in a previously uncharacterized population, thus adding to existing knowledge of population genetics in Atlantic Canada.