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  • Sir Peter MacCallum Department of Oncology
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    Ovarian and Breast Cancer Risks Associated With Pathogenic Variants in RAD51C and RAD51D.

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    Author
    Yang, X; Song, H; Leslie, G; Engel, C; Hahnen, E; Auber, B; Horváth, J; Kast, K; Niederacher, D; Turnbull, C; ...
    Date
    2020-12-14
    Source Title
    Journal of the National Cancer Institute
    Publisher
    Oxford University Press (OUP)
    University of Melbourne Author/s
    Traficante, Nadia; Bowtell, David
    Affiliation
    Sir Peter MacCallum Department of Oncology
    Metadata
    Show full item record
    Document Type
    Journal Article
    Citations
    Yang, X., Song, H., Leslie, G., Engel, C., Hahnen, E., Auber, B., Horváth, J., Kast, K., Niederacher, D., Turnbull, C., Houlston, R., Hanson, H., Loveday, C., Dolinsky, J. S., LaDuca, H., Ramus, S. J., Menon, U., Rosenthal, A. N., Jacobs, I. ,... Antoniou, A. C. (2020). Ovarian and Breast Cancer Risks Associated With Pathogenic Variants in RAD51C and RAD51D.. J Natl Cancer Inst, 112 (12), pp.1242-1250. https://doi.org/10.1093/jnci/djaa030.
    Access Status
    Access this item via the Open Access location
    URI
    http://hdl.handle.net/11343/254047
    DOI
    10.1093/jnci/djaa030
    Open Access URL
    https://discovery.ucl.ac.uk/id/eprint/10093306/1/Menon_djaa030VoR.pdf
    Open Access at PMC
    http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7735771
    Abstract
    BACKGROUND: The purpose of this study was to estimate precise age-specific tubo-ovarian carcinoma (TOC) and breast cancer (BC) risks for carriers of pathogenic variants in RAD51C and RAD51D. METHODS: We analyzed data from 6178 families, 125 with pathogenic variants in RAD51C, and 6690 families, 60 with pathogenic variants in RAD51D. TOC and BC relative and cumulative risks were estimated using complex segregation analysis to model the cancer inheritance patterns in families while adjusting for the mode of ascertainment of each family. All statistical tests were two-sided. RESULTS: Pathogenic variants in both RAD51C and RAD51D were associated with TOC (RAD51C: relative risk [RR] = 7.55, 95% confidence interval [CI] = 5.60 to 10.19; P = 5 × 10-40; RAD51D: RR = 7.60, 95% CI = 5.61 to 10.30; P = 5 × 10-39) and BC (RAD51C: RR = 1.99, 95% CI = 1.39 to 2.85; P = 1.55 × 10-4; RAD51D: RR = 1.83, 95% CI = 1.24 to 2.72; P = .002). For both RAD51C and RAD51D, there was a suggestion that the TOC relative risks increased with age until around age 60 years and decreased thereafter. The estimated cumulative risks of developing TOC to age 80 years were 11% (95% CI = 6% to 21%) for RAD51C and 13% (95% CI = 7% to 23%) for RAD51D pathogenic variant carriers. The estimated cumulative risks of developing BC to 80 years were 21% (95% CI = 15% to 29%) for RAD51C and 20% (95% CI = 14% to 28%) for RAD51D pathogenic variant carriers. Both TOC and BC risks for RAD51C and RAD51D pathogenic variant carriers varied by cancer family history and could be as high as 32-36% for TOC, for carriers with two first-degree relatives diagnosed with TOC, or 44-46% for BC, for carriers with two first-degree relatives diagnosed with BC. CONCLUSIONS: These estimates will facilitate the genetic counseling of RAD51C and RAD51D pathogenic variant carriers and justify the incorporation of RAD51C and RAD51D into cancer risk prediction models.

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