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  • Sir Peter MacCallum Department of Oncology
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    Association of germline variation with the survival of women with BRCA1/2 pathogenic variants and breast cancer

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    Author
    Muranen, TA; Khan, S; Fagerholm, R; Aittomaeki, K; Cunningham, JM; Dennis, J; Leslie, G; McGuffog, L; Parsons, MT; Simard, J; ...
    Date
    2020-09-10
    Source Title
    npj Breast Cancer
    Publisher
    NATURE PUBLISHING GROUP
    University of Melbourne Author/s
    James, Paul
    Affiliation
    Sir Peter MacCallum Department of Oncology
    Metadata
    Show full item record
    Document Type
    Journal Article
    Citations
    Muranen, T. A., Khan, S., Fagerholm, R., Aittomaeki, K., Cunningham, J. M., Dennis, J., Leslie, G., McGuffog, L., Parsons, M. T., Simard, J., Slager, S., Soucy, P., Easton, D. F., Tischkowitz, M., Spurdle, A. B., Schmutzler, R. K., Wappenschmidt, B., Hahnen, E., Hooning, M. J. ,... Nevanlinna, H. (2020). Association of germline variation with the survival of women with BRCA1/2 pathogenic variants and breast cancer. NPJ BREAST CANCER, 6 (1), https://doi.org/10.1038/s41523-020-00185-6.
    Access Status
    Open Access
    URI
    http://hdl.handle.net/11343/251590
    DOI
    10.1038/s41523-020-00185-6
    Abstract
    Germline genetic variation has been suggested to influence the survival of breast cancer patients independently of tumor pathology. We have studied survival associations of genetic variants in two etiologically unique groups of breast cancer patients, the carriers of germline pathogenic variants in BRCA1 or BRCA2 genes. We found that rs57025206 was significantly associated with the overall survival, predicting higher mortality of BRCA1 carrier patients with estrogen receptor-negative breast cancer, with a hazard ratio 4.37 (95% confidence interval 3.03-6.30, P = 3.1 × 10-9). Multivariable analysis adjusted for tumor characteristics suggested that rs57025206 was an independent survival marker. In addition, our exploratory analyses suggest that the associations between genetic variants and breast cancer patient survival may depend on tumor biological subgroup and clinical patient characteristics.

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