A5001460423- Cancer Genomics and Diagnostics
- Congenital Diaphragmatic Hernia Studies
- DNA Repair Mechanisms
- PARP inhibition in cancer therapy
- Medical Imaging and Pathology Studies
- Renal and related cancers
- Tracheal and airway disorders
- Lung Cancer Research Studies
- Neuroendocrine Tumor Research Advances
- Renal cell carcinoma treatment
McGill University Health Centre
2024-2025
McGill University
2021-2024
Abstract Hereditary leiomyomatosis and renal cell cancer (HLRCC) is an autosomal dominant predisposition syndrome characterized by cutaneous leiomyomas, uterine aggressive cancer. Germline variants in the fumarate hydratase ( FH ) gene predispose to HLRCC. Identifying germline pathogenic enables lifetime screening genetic testing for family members. In this report, we present a missense variant (c.1039T>C (p.S347P)), initially classified as of uncertain significance. Clinical assessment,...
Abstract It was hypothesized that variants in underexplored homologous recombination repair (HR) genes could explain unsolved multiple-case breast cancer (BC) families. We investigated HR deficiency (HRD)-associated mutational signatures and second hits tumor DNA from familial BC cases. No candidates were associated with HRD 38 probands previously tested negative gene panels. conclude it is unlikely unknown HRD-associated a large fraction of BC.