Evaluating the Integration of Genomics into Cancer Screening Programmes: Challenges and Opportunities

Author:

Briggs Sarah,Slade Ingrid

Funder

Medical Research Council

Wellcome Trust

Publisher

Springer Science and Business Media LLC

Subject

General Medicine

Reference67 articles.

1. •• Turnbull C, Sud A, Houlston RS. Cancer genetics, precision prevention and a call to action. Nat Genet. 2018;50(9):1212–8. https://doi.org/10.1038/s41588-018-0202-0 . This paper provides a comprehensive review of cancer genetics including high and moderate risk cancer susceptibility genes and polygenic risk scores. It summarises the clinical utility of identifying variants in this genetic architecture and provides a call to action for population testing.

2. Lee A, Mavaddat N, Wilcox AN, Cunningham AP, Carver T, Hartley S, et al. BOADICEA: a comprehensive breast cancer risk prediction model incorporating genetic and nongenetic risk factors. Genet Med. 2019. https://doi.org/10.1038/s41436-018-0406-9 .

3. Frampton MJ, Law P, Litchfield K, Morris EJ, Kerr D, Turnbull C, et al. Implications of polygenic risk for personalised colorectal cancer screening. Ann Oncol. 2015;27:429–34. https://doi.org/10.1093/annonc/mdv540 .

4. Pashayan N, Duffy SW, Chowdhury S, Dent T, Burton H, Neal DE, et al. Polygenic susceptibility to prostate and breast cancer: implications for personalised screening. Br J Cancer. 2011;104(10):1656–63. https://doi.org/10.1038/bjc.2011.118 .

5. •• Torkamani A, Wineinger NE, Topol EJ. The personal and clinical utility of polygenic risk scores. Nat Rev Genet. 2018;19(9):581–90. https://doi.org/10.1038/s41576-018-0018-x . This is a recent and comprehensive reiview of the evidence supporting the clinical and personal utlitity of polygenic risk profiling.

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