종양 유전검사 결과 설명 및 결과지 작성 권고안: 차세대염기서열분석법을 이용한 유전성 암 유전자검사

키워드

참고문헌 (31)

1. "NCI dictionary of cancer terms"[URL]
2. Metzker ML, "Sequencing technologies — the next generation", Nat Rev Genet, 11, pp.31~46 (2010)
3. Riley BD, "Essential elements of genetic cancer risk assessment, counseling, and testing : updated recommendations of the National Society of Genetic Counselors", J Genet Couns, 21, pp.151~161 (2012)
4. "Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic Version 2" (2022)[URL]
5. "Genetic/Familial High-Risk Assessment: Colorectal Version 2" (2021)[URL]
6. "Recommendations for genetic counselling related to genetic testing"[URL]
7. "Summary of the guidelines for genetic counselling"[URL]
8. "Clinical reporting of NGS data"[URL]
9. "Considerations for Design, Development, and Analytical Validation of Next Generation Sequencing (NGS)-Based In Vitro Diagnostics (IVDs) Intended to Aid in the Diagnosis of Suspected Germline Diseases. Docket No. FDA-2016-D-1270"[URL]
10. "General Genetic Laboratory Reporting Recommendations"[URL]
11. "OECD Guidelines for Quality Assurance in Genetic Testing"[URL]
12. Green RC, "ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing", Genet Med, 15, pp.565~574 (2013)
13. Rehm HL, "ACMG clinical laboratory standards for next-generation sequencing", Genet Med, 15, pp.733~747 (2013)
14. "Practice guidelines for targeted next generation sequencing analysis and interpretation"[URL]
15. Aziz N, "College of American Pathologists’ laboratory standards for next-generation sequencing clinical tests", Arch Pathol Lab Med, 139, pp.481~493 (2015)
16. Richards S, "Standards and guidelines for the interpretation of sequence variants : a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology", Genet Med, 17, pp.405~424 (2015)
17. "Practice guidelines for the evaluation of pathogenicity and the reporting of sequence variants in clinical molecular genetics"[URL]
18. "ACGS Best Practice Guidelines for Variant Classification in Rare Disease 2020"[URL]
19. Miller DT, "ACMG SF v3. 0 list for reporting of secondary findings in clinical exome and genome sequencing : a policy statement of the American College of Medical Genetics and Genomics(ACMG)", Genet Med, 23, pp.1381~1390 (2021)
20. "Genetic testing and management of individuals at risk of hereditary breast and ovarian cancer syndromes"[URL]
21. "2022 National Health Insurance Corporation Medical Fee"[URL]
22. "The 9th Korean Clinical Practice Guideline for Breast Cancer" (2021)[URL]
23. "NCCN Guidelines Kidney Cancer"[URL]
24. "VHLA Suggested Active Surveillance Guidelines"[URL]
25. Li MM, "Standards and guidelines for the interpretation and reporting of sequence variants in cancer", J Mol Diagn, 19, pp.4~23 (2017)
26. Matthijs G, "Guidelines for diagnostic next-generation sequencing", Eur J Hum Genet, 24, pp.2~5 (2016)
27. Claustres M, "Recommendations for reporting results of diagnostic genetic testing(biochemical, cytogenetic and molecular genetic)", Eur J Hum Genet, 22, pp.160~170 (2014)
28. den Dunnen JT, "HGVS recommendations for the description of sequence variants : 2016 update", Hum Mutat, 37, pp.564~569 (2016)
29. Need AC, "The importance of dynamic re-analysis in diagnostic whole exome sequencing", J Med Genet, 54, pp.155~156 (2017)
30. Wenger AM, "Systematic reanalysis of clinical exome data yields additional diagnoses : implications for providers", Genet Med, 19, pp.209~214 (2017)
31. Costain G, "Periodic reanalysis of whole-genome sequencing data enhances the diagnostic advantage over standard clinical genetic testing", Eur J Hum Genet, 26, pp.740~744 (2018)

관련 논문AI추천