Systematic immunohistochemistry screening for lynch syndrome in early age-of-onset colorectal cancer patients undergoing surgical resection

Journal of the American College of Surgeons

Volumn 214, Issue 1, 2012, Pages 61-67

  Steinhagen, Emily ^a   Shia, Jinru ^a   Markowitz, Arnold J ^a   Stadler, Zsofia K ^a   Salo Mullen, Erin E ^a   Zheng, Junting ^a   Lee Kong, Steven A ^a   Nash, Garrett M ^a   Offit, Kenneth ^a   Guillem, José G ^a  

^a MEMORIAL SLOAN KETTERING CANCER CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; COHORT ANALYSIS; COLON RESECTION; COLORECTAL CANCER; COLORECTAL SURGERY; FEMALE; GENE MUTATION; HEREDITARY NONPOLYPOSIS COLORECTAL CANCER; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; MAJOR CLINICAL STUDY; MALE; ONSET AGE; PRIORITY JOURNAL; PROSPECTIVE STUDY; RECTUM RESECTION; SCREENING;

ADULT; COLORECTAL NEOPLASMS; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; DNA MISMATCH REPAIR; FEMALE; HUMANS; IMMUNOHISTOCHEMISTRY; MALE; MIDDLE AGED; MUTATION; NEOPLASM STAGING; PROSPECTIVE STUDIES; YOUNG ADULT;

EID: 84255184037     PISSN: 10727515     EISSN: 18791190     Source Type: Journal    
DOI: 10.1016/j.jamcollsurg.2011.10.004     Document Type: Article

References (39)

1. H.F. Vasen, J.T. Wijnen, F.H. Menko Cancer risk in families with hereditary nonpolyposis colorectal cancer diagnosed by mutation analysis Gastroenterology 110 1996 1020 1027 (Pubitemid 26113739)
2. H.T. Lynch, P. Watson, S.J. Lanspa Natural history of colorectal cancer in hereditary nonpolyposis colorectal cancer (Lynch syndromes I and II) Dis Colon Rectum 31 1988 439 444
3. H. Hampel, W.L. Frankel, E. Martin Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer) N Engl J Med 352 2005 1851 1860
4. S.A. Lee-Kong, A.J. Markowitz, E. Glogowski Prospective immunohistochemical analysis of primary colorectal cancers for loss of mismatch repair protein expression Clin Colorectal Cancer 9 2010 255 259
5. S. Acharya, T. Wilson, S. Gradia hMSH2 forms specific mispair-binding complexes with hMSH3 and hMSH6 Proc Natl Acad Sci U S A 93 1996 13629 13634 (Pubitemid 26424170)
6. W.D. Foulkes, I. Thiffault, S.B. Gruber The founder mutation MSH2 (*)1906G - >C is an important cause of hereditary nonpolyposis colorectal cancer in the Ashkenazi Jewish population Am J Hum Genet 71 2001 1395 1412
7. J.G. Guillem, B.S. Rapaport, T. Kirchhoff A636P is associated with early-onset colon cancer in Ashkenazi Jews J Am Coll Surg 196 2003 222 225 (Pubitemid 36232066)
8. J.G. Guillem, H.G. Moore, C. Palmer A636P testing in Ashkenazi Jews Fam Cancer 3 2004 223 227
9. P. Ng, S. Henikoff SIFT: Predicting amino acid changes that affect protein function Nucleic Acids Res 31 2003 3812 3814 (Pubitemid 37442253)
10. P.C. Ng, S. Henikoff Predicting deleterious amino acid substitutions Genome Res 11 2001 863 874 (Pubitemid 32447869)
11. P.C. Ng, S. Henikoff Accounting for human polymorphisms predicted to affect protein function Genome Res 12 2002 436 446 (Pubitemid 34233019)
12. P. Kumar, S. Henikoff, P.C. Ng Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm Nat Protoc 4 2009 1073 1081
13. A. Goel, T. Nagasaka, J. Spiegel Low frequency of Lynch syndrome among young patients with non-familial colorectal cancer Clin Gastroenterol Hepatol 8 2010 966 971
14. R. Barnetson, A. Tenesa, S. Farrington Identification and survival of carriers of mutations in DNA mismatch-repair genes in colon cancer N Engl J Med 354 2006 2751 2763 (Pubitemid 43974193)
15. M. Giraldez, F. Balaguer, L. Bujanda MSH6 and MUTYH Deficiency is a frequent event in early-onset colorectal cancer Clin Cancer Res 16 2010 5402 5413
16. P.J. Limburg, W.S. Harmsen, H.H. Chen Prevalence of alterations in DNA mismatch repair genes in patients with young-onset colorectal cancer Clin Gastroenterol Hepatol 9 2011 497 502
17. M.O. Woods, H.B. Younghusband, P.S. Parfrey The genetic basis of colorectal cancer in a population-based incident cohort with a high rate of familial disease Gut 59 2010 1369 1377
18. R. Salovaara, A. Loukola, P. Kristo Population-based molecular detection of hereditary nonpolyposis colorectal cancer J Clin Oncol 18 2000 2193 2200 (Pubitemid 30350210)
19. H. Hampel, W. Frankel, E. Martin Feasibility of screening for Lynch syndrome among patients with colorectal cancer J Clin Oncol 26 2008 5783 5788
20. J.M. Cunningham, C.Y. Kim, E.R. Christensen The frequency of hereditary defective mismatch repair in a prospective series of unselected colorectal carcinomas Am J Hum Genet 69 2001 780 790 (Pubitemid 32868523)
21. V. Pinol, A. Castells, M. Andreu Accuracy of revised Bethesda guidelines, microsatellite instability, and immunohistochemistry for the identification of patients with hereditary nonpolyposis colorectal cancer JAMA 293 2005 1986 1994 (Pubitemid 40570892)
22. L.A. Aaltonen, R. Salovaara, P. Kristo Incidence of hereditary nonpolyposis colorectal cancer and the feasibility of molecular screening for the disease N Engl J Med 338 1998 1481 1487 (Pubitemid 28226275)
23. D. Wright, J. Arnold, B. Parry Immunohistochemistry to detect hereditary nonpolyposis colorectal cancer in young patients: the 7-year Auckland experience Dis Colon Rectum 54 2011 552 558
24. J.G. Guillem, E. Glogowski, H.G. Moore Single-amplicon MSH2 A636P mutation testing in Ashkenazi Jewish patients with colorectal cancer: role in presurgical management Ann Surg 245 2007 560 565 (Pubitemid 46555659)
25. S. Popat, R. Hubner, R.S. Houlston Systematic review of microsatellite instability and colorectal cancer prognosis J Clin Oncol 23 2005 609 618 (Pubitemid 46224239)
26. R. Gryfe, H. Kim, E.T. Hsieh Tumor microsatellite instability and clinical outcome in young patients with colorectal cancer N Engl J Med 342 2000 69 77 (Pubitemid 30036597)
27. C.M. Ribic, D.J. Sargent, M.J. Moore Tumor microsatellite-instability status as a predictor of benefit from fluorouracil-based adjuvant chemotherapy for colon cancer N Engl J Med 349 2003 247 257 (Pubitemid 36859476)
28. G. Des Guetz, O. Schischmanoff, P. Nicolas Does microsatellite instability predict the efficacy of adjuvant chemotherapy in colorectal cancer? A systematic review with meta-analysis Eur J Cancer 45 2009 1890 1896
29. D. Fink, S. Aebi, S.B. Howell The role of DNA mismatch repair in drug resistance Clin Cancer Res 4 1998 1 6 (Pubitemid 28062870)
30. D.J. Sargent, S. Marsoni, G. Monges Defective mismatch repair as a predictive marker for lack of efficacy of fluorouracil-based adjuvant therapy in colon cancer J Clin Oncol 28 2010 3219 3226
31. 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 2009 35 41
32. H. Hampel Point: justification for Lynch syndrome screening among all patients with newly diagnosed colorectal cancer J Nat Comp Cancer Network 8 2010 597 601
33. M. Hall Counterpoint: implementing population genetic screening for Lynch syndrome among newly diagnosed colorectal cancer patientswill the ends justify the means? J Nat Comp Cancer Network 8 2010 606 611
34. P.M. Lynch How helpful is age at colorectal cancer onset in finding HNPCC? Dis Colon Rectum 54 2011 515 517
35. W.S. Samowitz, K. Curtin, H.H. Lin The colon cancer burden of genetically defined hereditary nonpolyposis colon cancer Gastroenterology 121 2001 830 838 (Pubitemid 32959394)
36. A. de la Chapelle, G. Palomaki, H. Hampel Identifying Lynch syndrome Int J Cancer 125 2009 1492 1493
37. M. Mvundura, S.D. Grosse, H. Hampel The cost-effectiveness of genetic testing strategies for Lynch syndrome among newly diagnosed patients with colorectal cancer Genet Med 12 2010 93 104
38. T.A. Dinh, B.I. Rosner, J.C. Atwood Health benefits and cost-effectiveness of primary genetic screening for Lynch syndrome in the general population Cancer Prevent Res 4 2011 9 22
39. U. Ladabaum, G. Wang, J. Terdiman Strategies to identify the Lynch syndrome among patients with colorectal cancer: a cost-effectiveness analysis Ann Int Med 155 2011 69 79