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Science Page References

Precision Health

Spear B.B., Heath-Chiozzi M., Hu J. Clinical application of pharmacogenetics. Trends Mol. Med. 2001; 7, 201–204.

Yale Medicine. (2024, October 25). Hereditary cancer syndromes. Yale Medicine. https://www.yalemedicine.org/conditions/hereditary-cancer-syndromes. Accessed 11/26/2024.


Zehir A et al. Mutational landscape of metastatic cancer revealed from prospective clinical sequencing of 10,000 patients. Nat Med. 2017 Jun;23(6):703-713.

Our Lab

Varley KE, Mitra RD. Nested Patch PCR enables highly multiplexed mutation discovery in candidate genes. Genome Res. 2008 Nov;18(11):1844-50. doi: 10.1101/gr.078204.108. Epub 2008 Oct 10. PMID: 18849522; PMCID: PMC2577855.

Varley K.E., Mitra RD. Bisulfite Patch PCR enables multiplexed sequencing of promoter methylation across cancer samples. Genome Res. 2010 Sep;20(9):1279-87. doi: 10.1101/gr.101212.109. Epub 2010 Jul 13. PMID: 20627893; PMCID: PMC2928506.

Garutti M, et al. Hereditary Cancer Syndromes: A Comprehensive Review with a Visual Tool. Genes (Basel). 2023 Apr 30;14(5):1025. doi: 10.3390/genes14051025. PMID: 37239385; PMCID: PMC10218093.

N. Jewel Samadder et al., Exome Sequencing Identifies Carriers of the Autosomal Dominant Cancer Predisposition Disorders Beyond Current Practice Guideline Recommendations. JCO Precis Oncol 8, e2400106(2024). DOI:10.1200/PO.24.00106

Yuan Ji et al. 2016 May;18(3):438-445. doi: 10.1016/j.jmoldx.2016.01.003. Epub 2016 Mar 3. Preemptive Pharmacogenomic Testing for Precision Medicine: A Comprehensive Analysis of Five Actionable Pharmacogenomic Genes Using Next-Generation DNA Sequencing and a Customized CYP2D6 Genotyping Cascade.

Pharmacogenomic Testing

Centers for Disease Control and Prevention. (2024). FastStats: Medication Safety Data. Accessed 11/19/2024.



Swen JJ, van der Wouden CH, Manson LE, et al; Ubiquitous Pharmacogenomics Consortium. A 12-gene pharmacogenetic panel to prevent adverse drug reactions: an open-label, multicentre, controlled, cluster-randomised crossover implementation study. Lancet. 2023;401(10374):347-356.



Hereditary Cancer Risk Testing

1https://www.yalemedicine.org/conditions/hereditary-cancer-syndromes. Accessed 6/10/2024.

2http://www.cancer.org/cancer/types/prostate-cancer/about/key-statistics.html. Accessed 6/10/2024.

3http://www.cancer.org/cancer/types/colon-rectal-cancer/about/key-statistics.html. Accessed 6/10/2024.

4Sehgal R., Sheahan K., O'Connell P.R., Hanly A.M., Martin S.T., Winter D.C. Lynch syndrome: an updated review. Genes (Basel). 2014 Jun 27;5(3):497-507. doi: 10.3390/genes5030497. PMID: 24978665; PMCID: PMC4198913.

SEER. Cancer Query System: SEER Survival Statistics: SEER 18, Relative Survival by Stage (2011-2017).

Manchanda R, et al. 2018. Current detection rates and time-to-detection of all identifiable BRCA carriers in the Greater London population. J. Med. Genet. 55:538–45.



Rosenberg SM, et al. BRCA1 and BRCA2 Mutation Testing in Young Women With Breast Cancer. JAMA Oncol. 2016 Jun 1;2(6):730-6. doi: 10.1001/jamaoncol.2015.5941. PMID: 26867710; PMCID: PMC5002892.

Bhattacharya P, Leslie SW, McHugh TW. Lynch Syndrome (Hereditary Nonpolyposis Colorectal Cancer) [Updated 2024 Jun 8].

Clinical Pharmacy Services

National Center for Health Statistics; National Health Interview Survey, 2021. Accessed 11/27/2024.



FDA: Drug Interactions: What You Should Know, Sept. 2013. Accessed 11/24/2024. 



Verbeurgt, P., Mamiya, T., & Oesterheld, J. (2014). How Common are Drug and Gene Interactions? Prevalence in a Sample of 1143 Patients with CYP2C9, CYP2C19 and CYP2D6 Genotyping. Pharmacogenomics, 15(5), 655–665. 



Ratigan A.R., Michaud V., Turgeon J., et al. Longitudinal Association of a Medication Risk Score With Mortality Among Ambulatory Patients Acquired Through Electronic Health Record Data. J Patient Saf. 2021;17(4):249-255.

Our Post-Diagnostic Services

ONN References

Wells K.J., Lee J.H., Calcano E.R., Meade C.D., Rivera M., Fulp W.J., Roetzheim R.G. A cluster randomized trial evaluating the efficacy of patient navigation in improving quality of diagnostic care for patients with breast or colorectal cancer abnormalities. Cancer Epidemiol Biomarkers Prev. 2012 Oct;21 (10):1664-72.



14th Annual AONN+ Conference Abstracts, Oct 2023., Vol14, No10, B6. Accessed 11/20/2024.



Second Opinion Pathology Review References

MD Anderson Cancer Center Institutional Profile. Accessed 12/2/2024.

Lipitz-Snyderman A, Chimonas S, Mailankody S, et al. Clinical value of second opinions in oncology: A retrospective review of changes in diagnosis and treatment recommendations. Cancer Med. 2023; 12: 8063-8072.




Genetic Tumor Testing References
Nesline, M.K., Subbiah, V., Previs, R.A. et al. The Impact of Prior Single-Gene Testing on Comprehensive Genomic Profiling Results for Patients with Non-Small Cell Lung Cancer. Oncol Ther (2024).



Retsma, M., et al. Effect of a Collaboration Between a Health Plan, Oncology Practice, and Comprehensive Genomic Profiling Company from the Payer Perspective. J Manag Care Spec Pharm. 2019 May;25(5):601-611. 



Haslem DS, Chakravarty I, Fulde G, Gilbert H, Tudor BP, Lin K, Ford JM, Nadauld LD. Precision oncology in advanced cancer patients improves overall survival with lower weekly healthcare costs. Oncotarget. 2018 Feb 2;9(15):12316-12322. 




Clinical Trials References
Committee on Quality of Health Care in America, Institute of Medicine. Crossing the Quality Chasm: A New Health System for the 21st Century. Washington, DC: National Academies Press; 2001.



Unger JM, Vaidya R, Hershman DL, et al. Systematic review and meta- analysis of the magnitude of structural, clinical, and physician and patient barriers to cancer clinical trial participation. J Natl Cancer Inst. 2019;111(3): 245–255.



Unger JM, Cook E, Tai E, Bleyer A. The Role of Clinical Trial Participation in Cancer Research: Barriers, Evidence, and Strategies. Am Soc Clin Oncol Educ Book. 2016; 35:185-198.

Genetics of Cancer

National Cancer Institute, The Genetics of Cancer, 2024. Accessed 11/26/2024.

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