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Classifying Breast Cancer Tissue Through DNA Methylation and Clinical Covariate Based Retrieval

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Case-Based Reasoning Research and Development (ICCBR 2020)

Part of the book series: Lecture Notes in Computer Science ((LNAI,volume 12311))

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Abstract

In the current era of medicine where clinicians and researchers alike are seeking to personalize treatment plans to individuals, the integration of clinical data with microarray data is surprisingly absent. With this in mind, clinical covariate data was used to pre-select previously classified breast cancer tissue, and employ these classifications to new test cases. The pool of retrieved cases was then reduced further by investigating similar DNA methylation patterns. We first compared breast cancer tissue to normal tissue samples. This work was then extended to differentiating triple-negative breast cancer samples from ER-positive samples followed by investigating these subtypes at a genomic region level. In order to use the clinical covariate data, categorical distance measures were used to locate similar cases before being narrowed down with numeric DNA methylation data. Classification was then carried out using a novel, confidence-based procedure that automatically retrieves solved cases for each test sample until a threshold is met. We find that integrating clinical covariates increases the accuracy within our constructed two-stage system as opposed to using microarray data alone. Further, we outperformed random forest, naive bayes and kNN after refining the cases to a genomic region level.

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Notes

  1. 1.

    https://portal.gdc.cancer.gov/projects/TCGA-BRCA.

  2. 2.

    https://www.cancer.gov/tcga.

References

  1. Anaissi, A.: Case-base retrieval of childhood leukaemia patients using gene expression data, January 2013

    Google Scholar 

  2. Anaissi, A., Goyal, M., Catchpoole, D.R., Braytee, A., Kennedy, P.J.: Case-based retrieval framework for gene expression data. Cancer Inform. 14, 21–31 (2015). https://doi.org/10.4137/CIN.S22371

    Article  Google Scholar 

  3. Ayyad, S.M., Saleh, A.I., Labib, L.M.: Gene expression cancer classification using modified k-nearest neighbors technique. Biosystems 176, 41–51 (2019). https://doi.org/10.1016/j.biosystems.2018.12.009

    Article  Google Scholar 

  4. Bell, J.T., et al.: Epigenome-wide scans identify differentially methylated regions for age and age-related phenotypes in a healthy ageing population. PLoS Genet. 8(4) (2012). https://doi.org/10.1371/journal.pgen.1002629

  5. Boriah, S., Chandola, V., Kumar, V.: Similarity measures for categorical data: A comparative evaluation. In: Proceedings of the 2008 SIAM International Conference on Data Mining (2008). https://doi.org/10.1137/1.9781611972788.22

  6. Colaprico, A., et al.: Tcgabiolinks: An R/bioconductor package for integrative analysis of TCGA data. Nucleic Acids Res. (2015). https://doi.org/10.1093/nar/gkv1507

  7. Flanagan, J.M., et al.: Platinum-based chemotherapy induces methylation changes in blood dna associated with overall survival in patients with ovarian cancer. Clin. Cancer Res. 23(9), 2213–2222 (2016). https://doi.org/10.1158/1078-0432.ccr-16-1754

    Article  Google Scholar 

  8. Hall, M., Frank, E., Holmes, G., Pfahringer, B., Reutemann, P., Witten, I.H.: The WEKA data mining software: An update. SIGKDD Explor. 11(1), 10–18 (2009)

    Article  Google Scholar 

  9. Horvath, S., et al.: Aging effects on DNA methylation modules in human brain and blood tissue. Gen. Biol. 13(10) (2012). https://doi.org/10.1186/gb-2012-13-10-r97

  10. Lamy, J.B., Sekar, B., Guezennec, G., Bouaud, J., Séroussi, B.: Explainable artificial intelligence for breast cancer: A visual case-based reasoning approach. Artif. Intell. Med. 94, 42–53 (2019). https://doi.org/10.1016/j.artmed.2019.01.001

  11. Li, S., Harner, E.J., Adjeroh, D.A.: Random KNN feature selection - A fast and stable alternative to random forests. BMC Bioinforma. 12(1),  450 (2011). https://doi.org/10.1186/1471-2105-12-450, http://www.biomedcentral.com/1471-2105/12/450

  12. Song, M.A., et al.: Racial differences in genome-wide methylation profiling and gene expression in breast tissues from healthy women. Epigenetics 10(12), 1177–1187 (2015). https://doi.org/10.1080/15592294.2015.1121362

    Article  Google Scholar 

  13. van Vliet, M.H., Horlings, H.M., van de Vijver, M.J., Reinders, M.J., Wessels, L.F.: Integration of clinical and gene expression data has a synergetic effect on predicting breast cancer outcome. PLoS ONE 7(7) (2012). https://doi.org/10.1371/journal.pone.0040358

  14. Yang, G.S., et al.: Differential DNA methylation following chemotherapy for breast cancer is associated with lack of memory improvement at one year. Epigenetics, 1–12 (2019). https://doi.org/10.1080/15592294.2019.1699695

  15. Yao, B., Li, S.: ANMM4CBR: A case-based reasoning method for gene expression data classification. Algorithm. Mol. Biol. 5(1), 1–11 (2010). https://doi.org/10.1186/1748-7188-5-14

    Article  Google Scholar 

  16. Zhu, B., et al.: Integrating clinical and multiple omics data for prognostic assessment across human cancers. Sci. Rep. 7(1), 1–13 (2017). https://doi.org/10.1038/s41598-017-17031-8

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Correspondence to Christopher L. Bartlett .

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Bartlett, C.L., Liu, G., Bichindaritz, I. (2020). Classifying Breast Cancer Tissue Through DNA Methylation and Clinical Covariate Based Retrieval. In: Watson, I., Weber, R. (eds) Case-Based Reasoning Research and Development. ICCBR 2020. Lecture Notes in Computer Science(), vol 12311. Springer, Cham. https://doi.org/10.1007/978-3-030-58342-2_6

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  • DOI: https://doi.org/10.1007/978-3-030-58342-2_6

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  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-030-58341-5

  • Online ISBN: 978-3-030-58342-2

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