
Glossary
Find definitions for commonly used terms in precision medicine.

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- Haslam A, et al. BMC Cancer. 2023;23:46.
- National Cancer Institute. Dictionary of Cancer Terms – Biomarker. Accessed April 2024. https://www.cancer.gov/publications/dictionaries/cancer-terms/def/biomarker
- Le X, Elamin Y, and Zhang J. Cancers (Basel). 2023;15(11):2917.
- National Cancer Institute. Dictionary of Cancer Terms – Artificial intelligence. Accessed April 2024. https://www.cancer.gov/search/results?swKeyword=artificial+intelligence
- FDA-NIH Biomarker Working Group. BEST Accessed: April 2024. https://www.ncbi.nlm.nih.gov/books/NBK338448/
- Choi M, et al. Mol Cancer Ther. 2016;15(8):1781–91.
- National Cancer Institute. Dictionary of Cancer Terms – Biomarker Testing. Accessed April 2024. https://www.cancer.gov/publications/dictionaries/cancer-terms/def/biomarker-testing
- National Cancer Institute. Dictionary of Cancer Terms – BRCA. Accessed April 2024. https://www.cancer.gov/publications/dictionaries/cancer-terms/search/BRCA/?searchMode=Begins
- Breast Cancer. Molecular profiling. Accessed April 2024. https://www.breastcancer.org/screening-testing/molecular-profiling
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- National Cancer Institute. Dictionary of Cancer Terms – ctDNA. Accessed April 2024. https://www.cancer.gov/publications/dictionaries/cancer-terms/def/11tDNA
- CDC. Clinical Laboratory Improvement Amendments (CLIA). Accessed April 2024. https://www.cdc.gov/clia/about.html
- FDA. Companion Diagnostics. Accessed April 2024. https://www.fda.gov/medical-devices/in-vitro-diagnostics/companion-diagnostics
- Scheerens H, et al. Clin Transl Sci. 2017;10(2):84–92.
- Cui M, et al. Lab Invest. 2021;101(4):412–422.
- Abels E, et al. J Pathol. 2019;249(3):286–294
- Adashek JJ, et al. Cancers (Basel). 2021;13(14):3600.
- Wang R, et al. Cancer Res Commun. 2023;3(11):2221–2232.
- Iams WT, et al. JAMA Netw Open. 2024;7(1):e2351700.
- Al-Abbadi MA. Avicenna J Med. 2011;1(1):18–28.
- National Cancer Institute. Dictionary of Cancer Terms – MMR deficiency. Accessed April 2024. https://www.cancer.gov/publications/dictionaries/cancer-terms/def/mmr-deficiency
- The Royal College of Pathologists. Digital Pathology. Accessed April 2024. https://www.rcpath.org/profession/digital-pathology.html
- Jeroch J, et al. Cancers (Basel). 2023;15(12):3249.
- Cannan WJ and Pederson DS. J Cell Physiol. 2016;231(1):3–14.
- National Cancer Institute. Dictionary of Cancer Terms – EGFR gene. Accessed April 2024. https://www.cancer.gov/publications/dictionaries/cancer-terms/def/egfr-gene
- Jia Y, et al. Oncotarget. 2017;8(25):41717–41733.
- 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/
- Zeng J, et al. J Natl Cancer Cent. 2021;1(2):58–73.
- My Cancer Genome. FANCA. Accessed April 2024. https://www.mycancergenome.org/content/gene/fanca/
- 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=AnFDAapprovedcompaniondiagnostictestisused,onthegenomicalterationswithintheirtumor%28s%29
- Mathieson W, et al. J Histochem Cytochem. 2020;68(8):543–552.
- National Cancer Institute. Dictionary of Cancer Terms – Gene. Accessed April 2024. https://www.cancer.gov/publications/dictionaries/cancer-terms/def/gene
- National Cancer Institute. Dictionary of Cancer Terms – Gene expression. Accessed April 2024. https://www.cancer.gov/publications/dictionaries/cancer-terms/def/gene-expression
- National Cancer Institute. Cancer Genetics Overview (PDQ®)–Health Professional Version/ Accessed April 2024. https://www.cancer.gov/about-cancer/causes-prevention/genetics/overview-pdq
- National Cancer Institute. Dictionary of Cancer Terms – Alteration. Accessed April 2024. https://www.cancer.gov/publications/dictionaries/cancer-terms/def/alteration
- National Cancer Institute. About cancer – genetics. Accessed April 2024. https://www.cancer.gov/about-cancer/causes-prevention/genetics
- Abacan M, et al. Eur J Hum Genet. 2019;27(2):183–197.
- 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/
- 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/
- National Cancer Institute. Dictionary of Cancer Terms – Genome. Accessed April 2024. https://www.cancer.gov/publications/dictionaries/cancer-terms/def/genome
- Pikor L, et al. Cancer Metastasis Rev. 2013;32(3-4):341–352.
- Breastcancer.org. Genomic tests for breast cancer. Accessed April 2024. https://www.breastcancer.org/screening-testing/genomic-tests
- National Cancer Institute. Dictionary of Cancer Terms – Germline Variant. Accessed April 2024. https://www.cancer.gov/publications/dictionaries/genetics-dictionary/def/germline-variant
- Gutierrez C and Schiff R. Arch Pathol Lab Med. 2011;135(1):55–62.
- Iqbal N and Iqbal N. Mol Biol Int. 2014;2014:852748.
- National Cancer Institute. Dictionary of Cancer Terms – Histology. Accessed April 2024. https://www.cancer.gov/publications/dictionaries/cancer-terms/def/histology
- Li X and Heyer WD. Cell Res. 2008;18(1):99–113.
- Stewart MD, et al. Oncologist. 2022;27:167–174.
- Miller RE, et al. Ann Oncol. 2020;31(12):1606–1622.
- National Cancer Institute. Dictionary of Cancer Terms – Immunohistochemistry. Accessed April 2024. https://www.cancer.gov/publications/dictionaries/cancer-terms/def/immunohistochemistry
- Li J, et al. Cell Death Dis. 2024;15:175.
- Huang L, et al. Signal Transduct Target Ther. 2021;6:386.
- National Cancer Institute. Dictionary of Cancer Terms – Liquid Biopsy. Accessed April 2024. https://www.cancer.gov/publications/dictionaries/cancer-terms/def/liquid-biopsy
- Rabien A and Kristiansen G. Cancer Gene Profiling: Methods and Protocols. 2016:39–52.
- 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
- National Cancer Institute. Dictionary of Cancer Terms – MSI-H. Accessed April 2024. https://www.cancer.gov/publications/dictionaries/cancer-terms/def/msi-h-cancer
- American Cancer Society. Multi-cancer Early Detection (MCED) Tests. Accessed April 2024. https://www.cancer.org/cancer/screening/multi-cancer-early-detection-tests.html
- Taberna M, et al. Front Oncol. 2020;10:85.
- 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 .
- Behjati S and Tarpey PS. Arch Dis Child Educ Pract Ed. 2013;98(6):236–238.
- Radhakrishnan SK, et al. DNA Repair (Amst). 2014;17:2–8.
- Novak D and Utikal J. Cancers (Basel). 2021;13(4):708.
- Gower A, et al. J Mol Med (Berl). 2014;92(7):697–707.
- Wu S, et al. Front Oncol. 2020;10:301.
- CAP. What is pathology. Accessed April 2024 https://www.cap.org/member-resources/articles/what-is-pathology#:~:text=Pathologyisthemedicaldisciplinethatprovidesdiagnostic,tomanagingchronicdiseasesthroughaccuratelaboratorytesting
- National Cancer Institute. Dictionary of Cancer Terms – Patient navigator. Accessed April 2024. https://www.cancer.gov/publications/dictionaries/cancer-terms/def/patient-navigator
- Han Y, et al. Am J Cancer Res. 2020;10(3):727–742.
- National Cancer Institute. Dictionary of Cancer Terms – Pharmacogenomics. Accessed April 2024. https://www.cancer.gov/publications/dictionaries/cancer-terms/def/pharmacogenomics
- Cerma K, et al. Biomedicines. 2023;11:109.
- National Cancer Institute. Dictionary of Cancer Terms – Phenotype. Accessed April 2024. https://www.cancer.gov/publications/dictionaries/cancer-terms/def/phenotype
- FDA. Precision Medicine. Accessed April 2024. https://www.fda.gov/medical-devices/in-vitro-diagnostics/precision-medicine
- National Library of Medicine. BEST (Biomarkers, EndpointS, and other Tools) Resource – Predictive Biomarker. Accessed April 2024. https://www.ncbi.nlm.nih.gov/books/NBK402283/
- National Library of Medicine. BEST (Biomarkers, EndpointS, and other Tools) Resource – Prognostic Biomarker. Accessed April 2024. https://www.ncbi.nlm.nih.gov/books/NBK402289/
- Chial, H. Nat Educ. 2008;1(1):33.
- Bonilla B, et al. Annu Rev Genet. 2020;54:25–46.
- Mayerhoefer ME, et al. J Nucl Med. 2020;61(4):488–495.
- Pathology Outlines. Cytopathology. Accessed April 2024. https://www.pathologyoutlines.com/topic/cytopathologyrose.html
- Huang Z, et al. Transl Cancer Res. 2021;10(1):479.
- Gosney JR, et al. ESMO Open. 2023;8(4):101587.
- 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/
- Tian Y, et al. Cancer Lett. 2023;216022.
- Alldredge J and Randall L. Obstet Gynecol Clin North Am. 2019;46(1):37–53.
- National Cancer Institute. Dictionary of Genetics Terms – Somatic Variant. Accessed April 2024. https://www.cancer.gov/publications/dictionaries/genetics-dictionary/def/somatic-variant
- Dufraing K, et al. Virchows Arch. 2021;478(3):553–565.
- Xu K, et al. BMC Cancer. 2024;24:491.
- 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/
- College of American Pathologists. Definition of Synoptic Reporting. Accessed April 2024. https://documents.cap.org/documents/synoptic_reporting_definition_examples_v4.0.pdf
- National Cancer Institute. Dictionary of Cancer Terms – Targeted Therapy. Accessed April 2024. https://www.cancer.gov/publications/dictionaries/cancer-terms/def/targeted-therapy
- National Cancer Institute. Biomarker Testing for Cancer Treatment. Accessed April 2024. https://www.cancer.gov/about-cancer/treatment/types/biomarker-testing-cancer-treatment
- Hilgart JS, et al. Genet Med. 2012;14(9):765–776.
- Hawkins RC. Clin Biochem Rev. 2007;28(4):179–194.
- 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
- Sastre J, et al. Oncologist. 2012;17(7):947–955.
- 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
- 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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