Reflex immunohistochemistry and microsatellite instability testing of colorectal tumors for lynch syndrome among US Cancer Programs and follow-up of abnormal results

Journal of Clinical Oncology

Volumn 30, Issue 10, 2012, Pages 1058-1063

  Beamer, Laura C ^a   Grant, Marcia L ^a   Espenschied, Carin R ^a   Blazer, Kathleen R ^a   Hampel, Heather L ^b   Weitzel, Jeffrey N ^a   MacDonald, Deborah J ^a  

^a Division of Clinical Cancer Genetics   (United States)

^b OHIO STATE UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CANCER REGISTRY; CANCER SCREENING; COLORECTAL CANCER; CROSS-SECTIONAL STUDY; FOLLOW UP; HEALTH EDUCATION; HEALTH PROGRAM; HEREDITARY NONPOLYPOSIS COLORECTAL CANCER; HUMAN; IMMUNOHISTOCHEMISTRY; INTERNET; MICROSATELLITE INSTABILITY; OUTCOME ASSESSMENT; PATIENT REFERRAL; PREDICTIVE VALUE; PREOPERATIVE PERIOD; PRIORITY JOURNAL; UNITED STATES;

ADULT; AGED; COLORECTAL NEOPLASMS; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; CROSS-SECTIONAL STUDIES; FEMALE; GENETIC TESTING; HEALTH CARE SURVEYS; HUMANS; IMMUNOHISTOCHEMISTRY; INFORMED CONSENT; LOGISTIC MODELS; MALE; MICROSATELLITE INSTABILITY; MIDDLE AGED; PROGRAM EVALUATION; REFERRAL AND CONSULTATION; STANDARD OF CARE; UNITED STATES;

EID: 84862530392     PISSN: 0732183X     EISSN: 15277755     Source Type: Journal    
DOI: 10.1200/JCO.2011.38.4719     Document Type: Article

References (31)

1. ACS: Colorectal Cancer Facts & Figures 2011- 2013. Atlanta, American Cancer Society, 2011. http://www.cancer.org/research/cancerfactsfigures/ colorectalcancerfactsfigures/colorectal-cancer-factsfigures- 2011-2013-page
2. Palomaki GE, McClain MR, Melillo S, et al: EGAPP supplementary evidence review: DNA testing strategies aimed at reducing morbidity and mortality from Lynch syndrome. Genet Med 11:42-65, 2009
3. Hampel H, Frankel WL, Martin E, et al: Feasibility of screening for Lynch syndrome among patients with colorectal cancer. J Clin Oncol 26:5783-5788, 2008
4. Jasperson KW, Tuohy TM, Neklason DW, et al: Hereditary and familial colon cancer. Gastroenterology 138:2044-2058, 2010
5. Levin B, Lieberman DA, McFarland B, et al: Screening and surveillance for the early detection of colorectal cancer and adenomatous polyps, 2008: A joint guideline from the American Cancer Society, the US Multi-Society Task Force on Colorectal Cancer, and the American College of Radiology. CA Cancer J Clin 58:130-160, 2008 (Pubitemid 351830299)
6. NCCN: NCCN clinical practice guidelines in oncology V. 2.2011: Colorectal cancer screening. http://www.nccn.org/professionals/physician-gls/pdf/ colorectal-screening.pdf
7. South CD, Hampel H, Comeras I, et al: The frequency of Muir-Torre Syndrome among Lynch syndrome families. J Natl Cancer Inst 100:277-281, 2008 (Pubitemid 351480531)
8. Umar A, Boland CR, Terdiman JP, et al: Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability. J Natl Cancer Inst 96: 261-268, 2004 (Pubitemid 38256271)
9. Fishel R, Lescoe MK, Rao MR, et al: The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer. Cell 75:1027-1038, 1993 (Pubitemid 24014559)
10. Bronner CE, Baker SM, Morrison PT, et al: Mutation in the DNA mismatch repair gene homologue hMLH 1 is associated with hereditary nonpolyposis colon cancer. Nature 368:258-261, 1994
11. Mueller J, Gazzoli I, Bandipalliam P, et al: Comprehensive molecular analysis of mismatch repair gene defects in suspected Lynch syndrome (hereditary nonpolyposis colorectal cancer) cases. Cancer Res 69:7053-7061, 2009
12. Domingo E, Laiho P, Ollikainen M, et al: BRAF screening as a low-cost effective strategy for simplifying HNPCC genetic testing. J Med Genet 41: 664-668, 2004
13. Shia J, Stadler Z, Weiser MR, et al: Immunohistochemical staining for DNA mismatch repair proteins in intestinal tract carcinoma: How reliable are biopsy samples? Am J Surg Pathol 35:447-454, 2011
14. Evaluation of Genomic Applications in Practice and Prevention (EGAPP) Working Group: Recommendations from the EGAPP Working Group: Genetic testing strategies in newly diagnosed individuals with colorectal cancer aimed at reducing morbidity and mortality from Lynch syndrome in relatives. Genet Med 11:35-41, 2009
15. Collaborative Stage Work Group of the American Joint Committee on Cancer: Collaborative Stage Data Collection System User Documentation and Coding Instructions, Version 02.03.02. Chicago, IL, American Joint Committee on Cancer, 2011. http://www.cancerstaging.org/staging/index.html
16. Chubak B, Heald B, Sharp RR: Informed consent to microsatellite instability and immunohistochemistry screening for Lynch syndrome. Genet Med 13:356-360, 2011
17. Lindor NM, Sloan J, Goldberg R, et al: Colorectal tumour microsatellite instability test results: Perspectives from patients. Hered Cancer Clin Pract 2:69-75, 2004
18. des Guetz G, Mariani P, Cucherousset J, et al: Microsatellite instability and sensitivitiy to FOLFOX treatment in metastatic colorectal cancer. Anticancer Res 27:2715-2719, 2007 (Pubitemid 47227987)
19. Jensen SA, Vainer B, Kruhøffer M, et al: Microsatellite instability in colorectal cancer and association with thymidylate synthase and dihydropyrimidine dehydrogenase expression. BMC Cancer 9:25, 2009
20. Jover R, Nguyen TP, Pérez-Carbonell L, et al: 5-Fluorouracil adjuvant chemotherapy does not increase survival in patients with CpG island methylator phenotype colorectal cancer. Gastroenterology 140:1174-1181, 2011
21. Sargent DJ, Marsoni S, Monges G, et al: Defective mismatch repair as a predictive marker for lack of efficacy of fluorouracil-based adjuvant therapy in colon cancer. J Clin Oncol 28:3219-3226, 2010
22. Dinh TA, Rosner BI, Atwood JC, et al: Health benefits and cost-effectiveness of primary genetic screening for Lynch syndrome in the general population. Cancer Prev Res (Phila) 4:9-22, 2011
23. Hampel H, de la Chapelle A: The search for unaffected individuals with Lynch Syndrome: Do the ends justify the means? Cancer Prev Res (Phila) 4:1-5, 2011
24. Hampel H: Point: Justification for Lynch syndrome screening among all patients with newly diagnosed colorectal cancer. J Natl Compr Canc Netw 8:597-601, 2010
25. Lynch HT: Cancer family history and genetic testing: Are malpractice adjudications waiting to happen? Am J Gastroenterol 97:518-520, 2002
26. Lynch HT, Paulson J, Severin M, et al: Failure to diagnose hereditary colorectal cancer and its medicolegal implications: A hereditary nonpolyposis colorectal cancer case. Dis Colon Rectum 42:31-35, 1999 (Pubitemid 29053117)
27. Dillman D, Smyth JD, Christian LM: Internet, Mail, and Mixed-Mode Surveys: The Tailored Design Method. Hoboken, NJ, John Wiley & Sons, 2009
28. Rogers E: Diffusion of Innovations (ed 5). New York, NY, Free Press, 2003
29. Nutley S, Davies H, Walter I: Learning from the diffusion of innovations. http://www.ruru.ac.uk/ pdfs/conceptual%20synthesis%201diffusionof%20 innovations.pdf
30. CAP Technology Assessment Committee: POET Report: Prognostic Uses of MSI Testing, V1, Perspectives on Emerging Technology. Northfield, IL, College of American Pathologists, 2011. http:// www.cap.org/apps/docs/committees/ technology/ microsatellite-testing.pdf
31. Manne SL, Meropol NJ, Weinberg DS, et al: Facilitating informed decisions regarding microsatellite instability testing among high-risk individuals diagnosed with colorectal cancer. J Clin Oncol 28: 1366-1372, 2010