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Find definitions for commonly used terms in precision medicine.

  1. Haslam A, et al. BMC Cancer. 2023;23:46.
  2. National Cancer Institute. Dictionary of Cancer Terms – Biomarker. Accessed April 2024. https://www.cancer.gov/publications/dictionaries/cancer-terms/def/biomarker
  3. Le X, Elamin Y, and Zhang J. Cancers (Basel). 2023;15(11):2917.
  4. National Cancer Institute. Dictionary of Cancer Terms – Artificial intelligence. Accessed April 2024. https://www.cancer.gov/search/results?swKeyword=artificial+intelligence
  5. FDA-NIH Biomarker Working Group. BEST Accessed: April 2024. https://www.ncbi.nlm.nih.gov/books/NBK338448/
  6. Choi M, et al. Mol Cancer Ther. 2016;15(8):1781–91.
  7. National Cancer Institute. Dictionary of Cancer Terms – Biomarker Testing. Accessed April 2024. https://www.cancer.gov/publications/dictionaries/cancer-terms/def/biomarker-testing
  8. National Cancer Institute. Dictionary of Cancer Terms – BRCA. Accessed April 2024. https://www.cancer.gov/publications/dictionaries/cancer-terms/search/BRCA/?searchMode=Begins
  9. Breast Cancer. Molecular profiling. Accessed April 2024.  https://www.breastcancer.org/screening-testing/molecular-profiling
  10. Baba AI and Câtoi C. Comparative Oncology. Bucharest (RO): The Publishing House of the Romanian Academy; 2007. Chapter 2, CARCINOGENESIS. Available from: https://www.ncbi.nlm.nih.gov/books/NBK9552/
  11. Lui GYL, et al. J Clin Pathol. 2018;71(11):957–962.
  12. Wu Q, et al. Sci Rep. 2023;13(1):21928.
  13. Honoré N, et al. Cancer. 2021;13:5364.
  14. National Cancer Institute. Dictionary of Cancer Terms – ctDNA. Accessed April 2024. https://www.cancer.gov/publications/dictionaries/cancer-terms/def/11tDNA
  15. CDC. Clinical Laboratory Improvement Amendments (CLIA). Accessed April 2024.  https://www.cdc.gov/clia/about.html
  16. FDA. Companion Diagnostics. Accessed April 2024. https://www.fda.gov/medical-devices/in-vitro-diagnostics/companion-diagnostics
  17. Scheerens H, et al. Clin Transl Sci. 2017;10(2):84–92.
  18. Cui M, et al. Lab Invest. 2021;101(4):412–422.
  19. Abels E, et al. J Pathol. 2019;249(3):286–294
  20. Adashek JJ, et al. Cancers (Basel). 2021;13(14):3600.
  21. Wang R, et al. Cancer Res Commun. 2023;3(11):2221–2232.
  22. Iams WT, et al. JAMA Netw Open. 2024;7(1):e2351700.
  23. Al-Abbadi MA. Avicenna J Med. 2011;1(1):18–28.
  24. National Cancer Institute. Dictionary of Cancer Terms – MMR deficiency. Accessed April 2024. https://www.cancer.gov/publications/dictionaries/cancer-terms/def/mmr-deficiency
  25. The Royal College of Pathologists. Digital Pathology. Accessed April 2024. https://www.rcpath.org/profession/digital-pathology.html
  26. Jeroch J, et al. Cancers (Basel). 2023;15(12):3249. 
  27. Cannan WJ and Pederson DS. J Cell Physiol. 2016;231(1):3–14.
  28. National Cancer Institute. Dictionary of Cancer Terms – EGFR gene. Accessed April 2024. https://www.cancer.gov/publications/dictionaries/cancer-terms/def/egfr-gene
  29. Jia Y, et al. Oncotarget. 2017;8(25):41717–41733.
  30. Steward M and Dickson C. Sonography Endobronchial Assessment, Protocols, and Interpretation. In: StatPearls [Internet]. 2024. Available from: https://​www​.ncbi​.nlm​.nih​.gov​/books​/NBK570578/
  31. Zeng J, et al. J Natl Cancer Cent. 2021;1(2):58–73.
  32. My Cancer Genome. FANCA. Accessed April 2024. https://www.mycancergenome.org/content/gene/fanca/
  33. Foundation Medicine. Companion Diagnostics explained. Accessed April 2024. https://​www​.foundationmedicine​.com​/blog​/companion​-diagnostics​-explained​-their​-critical​-role-cancer-care-and-our-latest-approvals#:~:text=An​FDA​approved​companion​diagnostic​test​is​used,on​the​genomic​alterations​within​their​tumor​%28s%29
  34. Mathieson W, et al. J Histochem Cytochem. 2020;68(8):543–552.
  35. National Cancer Institute. Dictionary of Cancer Terms – Gene. Accessed April 2024. https://www.cancer.gov/publications/dictionaries/cancer-terms/def/gene
  36. National Cancer Institute. Dictionary of Cancer Terms – Gene expression. Accessed April 2024. https://www.cancer.gov/publications/dictionaries/cancer-terms/def/gene-expression
  37. National Cancer Institute. Cancer Genetics Overview (PDQ®)–Health Professional Version/ Accessed April 2024. https://www.cancer.gov/about-cancer/causes-prevention/genetics/overview-pdq
  38. National Cancer Institute. Dictionary of Cancer Terms – Alteration. Accessed April 2024. https://www.cancer.gov/publications/dictionaries/cancer-terms/def/alteration
  39. National Cancer Institute. About cancer – genetics. Accessed April 2024. https://www.cancer.gov/about-cancer/causes-prevention/genetics
  40. Abacan M, et al. Eur J Hum Genet. 2019;27(2):183–197.
  41. Institute of Medicine (US) Committee on Assessing Interactions Among Social, Behavioral, and Genetic Factors in Health. Genes, Behavior, and the Social Environment: Moving Beyond the Nature/Nurture Debate. National Academies Press; 2006. Available from: https://www.ncbi.nlm.nih.gov/books/NBK19932/
  42. Genetic Alliance. Understanding Genetics: A New York, Mid-Atlantic Guide for Patients and Health Professionals. Washington: Genetic Alliance. 2009. Available from: https://www.ncbi.nlm.nih.gov/books/NBK115571/
  43. National Cancer Institute. Dictionary of Cancer Terms – Genome. Accessed April 2024. https://www.cancer.gov/publications/dictionaries/cancer-terms/def/genome
  44. Pikor L, et al. Cancer Metastasis Rev. 2013;32(3-4):341–352.
  45. Breastcancer.org. Genomic tests for breast cancer. Accessed April 2024. https://www.breastcancer.org/screening-testing/genomic-tests
  46. National Cancer Institute. Dictionary of Cancer Terms – Germline Variant. Accessed April 2024. https://www.cancer.gov/publications/dictionaries/genetics-dictionary/def/germline-variant
  47. Gutierrez C and Schiff R. Arch Pathol Lab Med. 2011;135(1):55–62.
  48. Iqbal N and Iqbal N. Mol Biol Int. 2014;2014:852748.
  49. National Cancer Institute. Dictionary of Cancer Terms – Histology. Accessed April 2024. https://www.cancer.gov/publications/dictionaries/cancer-terms/def/histology
  50. Li X and Heyer WD. Cell Res. 2008;18(1):99–113.
  51. Stewart MD, et al. Oncologist. 2022;27:167–174. 
  52. Miller RE, et al. Ann Oncol. 2020;31(12):1606–1622.
  53. National Cancer Institute. Dictionary of Cancer Terms – Immunohistochemistry. Accessed April 2024. https://www.cancer.gov/publications/dictionaries/cancer-terms/def/immunohistochemistry
  54. Li J, et al. Cell Death Dis. 2024;15:175.
  55. Huang L, et al. Signal Transduct Target Ther. 2021;6:386.
  56. National Cancer Institute. Dictionary of Cancer Terms – Liquid Biopsy. Accessed April 2024. https://www.cancer.gov/publications/dictionaries/cancer-terms/def/liquid-biopsy
  57. Rabien A and Kristiansen G. Cancer Gene Profiling: Methods and Protocols. 2016:39–52.
  58. National Cancer Institute. Dictionary of Cancer Terms – Minimal residual disease. Accessed April 2024. https://www.cancer.gov/publications/dictionaries/cancer-terms/def/minimal-residual-disease
  59. National Cancer Institute. Dictionary of Cancer Terms – MSI-H. Accessed April 2024. https://www.cancer.gov/publications/dictionaries/cancer-terms/def/msi-h-cancer
  60. American Cancer Society. Multi-cancer Early Detection (MCED) Tests. Accessed April 2024. https://www.cancer.org/cancer/screening/multi-cancer-early-detection-tests.html
  61. Taberna M, et al. Front Oncol. 2020;10:85.
  62. NCCN. About. Referenced with permission from the National Comprehensive Cancer Network® (NCCN®). © National Comprehensive Cancer Network, Inc. 2024. All rights reserved. Accessed April 01, 2024. To view the most recent and complete version of the recommendations, go online to NCCN.org .
  63. Behjati S and Tarpey PS. Arch Dis Child Educ Pract Ed. 2013;98(6):236–238.
  64. Radhakrishnan SK, et al. DNA Repair (Amst). 2014;17:2–8.
  65. Novak D and Utikal J. Cancers (Basel). 2021;13(4):708.
  66. Gower A, et al. J Mol Med (Berl). 2014;92(7):697–707.
  67. Wu S, et al. Front Oncol. 2020;10:301.
  68. CAP. What is pathology. Accessed April 2024  https://www.cap.org/member-resources/articles/what-is-pathology#:~:text=Pathology​is​the​medical​discipline​that​provides​diagnostic,to​managing​chronic​diseases​through​accurate​laboratory​testing
  69. National Cancer Institute. Dictionary of Cancer Terms – Patient navigator. Accessed April 2024. https://www.cancer.gov/publications/dictionaries/cancer-terms/def/patient-navigator
  70. Han Y, et al. Am J Cancer Res. 2020;10(3):727–742.
  71. National Cancer Institute. Dictionary of Cancer Terms – Pharmacogenomics. Accessed April 2024. https://www.cancer.gov/publications/dictionaries/cancer-terms/def/pharmacogenomics
  72. Cerma K, et al. Biomedicines. 2023;11:109.
  73. National Cancer Institute. Dictionary of Cancer Terms – Phenotype. Accessed April 2024. https://www.cancer.gov/publications/dictionaries/cancer-terms/def/phenotype
  74. FDA. Precision Medicine. Accessed April 2024. https://www.fda.gov/medical-devices/in-vitro-diagnostics/precision-medicine
  75. National Library of Medicine. BEST (Biomarkers, EndpointS, and other Tools) Resource – Predictive Biomarker. Accessed April 2024. https://​www​.ncbi​.nlm​.nih​.gov​/books​/NBK402283/
  76. National Library of Medicine. BEST (Biomarkers, EndpointS, and other Tools) Resource – Prognostic Biomarker. Accessed April 2024. https://​www​.ncbi​.nlm​.nih​.gov​/books​/NBK402289/
  77. Chial, H. Nat Educ. 2008;1(1):33. 
  78. Bonilla B, et al. Annu Rev Genet. 2020;54:25–46.
  79. Mayerhoefer ME, et al. J Nucl Med. 2020;61(4):488–495.
  80. Pathology Outlines. Cytopathology. Accessed April 2024. https://www.pathologyoutlines.com/topic/cytopathologyrose.html
  81. Huang Z, et al. Transl Cancer Res. 2021;10(1):479.
  82. Gosney JR, et al. ESMO Open. 2023;8(4):101587.
  83. Ishida C, et al. Molecular Genetics Testing. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing. Available from: https://​www​.ncbi​.nlm​.nih​.gov​/booksv​/NBK560712/
  84. Tian Y, et al. Cancer Lett. 2023;216022.
  85. Alldredge J and Randall L. Obstet Gynecol Clin North Am. 2019;46(1):37–53.
  86. National Cancer Institute. Dictionary of Genetics Terms – Somatic Variant. Accessed April 2024. https://www.cancer.gov/publications/dictionaries/genetics-dictionary/def/somatic-variant
  87. Dufraing K, et al. Virchows Arch. 2021;478(3):553–565.
  88. Xu K, et al. BMC Cancer. 2024;24:491.
  89. American College of Surgeons. Synoptic reporting for cancer surgery: Current requirements and future state. Accessed April 2024. https://www.facs.org/for-medical-professionals/news-publications/news-and-articles/bulletin/2021/12/synoptic-reporting-for-cancer-surgery-current-requirements-and-future-state/
  90. College of American Pathologists. Definition of Synoptic Reporting. Accessed April 2024. https://​​documents​​.cap​​.org​​/documents​​/synoptic_​reporting_​definition_​examples_​v4.0.pdf
  91. National Cancer Institute. Dictionary of Cancer Terms – Targeted Therapy. Accessed April 2024. https://www.cancer.gov/publications/dictionaries/cancer-terms/def/targeted-therapy
  92. National Cancer Institute. Biomarker Testing for Cancer Treatment. Accessed April 2024. https://www.cancer.gov/about-cancer/treatment/types/biomarker-testing-cancer-treatment
  93. Hilgart JS, et al. Genet Med. 2012;14(9):765–776. 
  94. Hawkins RC. Clin Biochem Rev. 2007;28(4):179–194.
  95. American Cancer Society. How Is a Biopsy Done? Accessed April 2024. https://www.cancer.org/cancer/diagnosis-staging/tests/biopsy-and-cytology-tests/biopsy-types.html
  96. Sastre J, et al. Oncologist. 2012;17(7):947–955.
  97. National Cancer Institute. Dictionary of Cancer Terms – Tumor mutational burden. Accessed April 2024. https://www.cancer.gov/publications/dictionaries/cancer-terms/def/tumor-mutational-burden
  98. National Cancer Institute. Dictionary of Cancer Terms – VUS. Accessed April 2024. https://www.cancer.gov/publications/dictionaries/cancer-terms/def/vus

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