Screening Guidelines: Colorectal Cancer Screening References

  1. Jemal A, Siegel R, Ward E, et al. Cancer statistics, 2008. CA Cancer J Clin 2008;58:71-96.
  2. Winawer SJ, Zauber AG, Ho MN, et al. Prevention of colorectal cancer by colonoscopic polypectomy. N Engl J Med 1993;329:1977-1981.
  3. 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. Gastroenterology 2008;134:1570-1595.
  4. Mandel JS, Bond JH, Church TR, Snover DC, Bradley GM, Schuman LM, Ederer F. Reducing mortality from colorectal cancer by screening for fecal occult blood. N Engl J Med 1993;328:1365-1371.
  5. Mandel JS, Church TR, Ederer F, Bond JH. Colorectal cancer mortality: Effectiveness of biennial screening for fecal occult blood. J Natl Cancer Inst 1999;91:434-437.
  6. Hardcastle JD, Chamberlain JO, Robinson MHE, Moss SM, Amar SS, Balfour TW, James PD, Mangham CM. Randomized controlled trial of faecal-occult-blood screening for colorectal cancer. Lancet 1996;348:1472-1477.
  7. Kronborg O, Fenger C, Olsen J, Jorgenson OD, Sondergaard O. Randomised study of screening for colorectal cancer with faecal-occult-blood test. Lancet 1996;348:1467-1471.
  8. Mandel JS, Church TR, Bond JH, Ederer F, Geisser MS, Mongin SJ, Snover DC, Schuman LM. The effect of fecal occult-blood screening on the incidence of colorectal cancer. N Engl J Med 2000;343:1603-1607.
  9. Morikawa T, Kato J, Yamaji, Wada R, Mitsushima T, Shiratori Y. Comparison of the immunochemical fecal occult blood test and total colonoscopy in the asymptomatic population. Gastroenterology 2005;125:422-428.
  10. Selby JV, Friedman GD, Quesenberry CP Jr, Weiss NS. A case-control study of screening sigmoidoscopy and mortality from colorectal cancer. N Engl J Med 1992;326:653-657.
  11. Newcomb PA, Norfleet RG, Storer BE, Surawicz TS, Marcus PM. Screening sigmoidoscopy and colorectal cancer mortality. J Natl Cancer Inst 1992;84:1572-1575.
  12. Lieberman DA, Weiss DG, Bond JH, Ahnen DJ, Garewal H, Chejfec G. Use of colonoscopy to screen asymptomatic adults for colorectal cancer. N Engl J Med 2000;343:162-168.
  13. Imperiale TF, Wagner DR, Lin CY, Larkin GN, Rogge JD, Ransohoff DF. Risk of advanced proximal neoplasms in asymptomatic adults according to the distal colorectal findings. N Engl J Med 2000;343:169-174.
  14. Winawer SJ, Stewart E, Zauber AG, Bond JH, Ansel H, Waye JD, Hall D, Hamlin JA, Schapiro M, O'Brien MJ, Sternberg SS, Gottlieb LS. A comparison of colonoscopy and double-contrast barium enema for surveillance after polypectomy. N Engl J Med 2000;342:1766-1772.
  15. Fenlon HM, Nunes DP, Schroy III PC, Barish MA, Clarke PD, Ferrucci JT. A comparison of virtual and conventional colonoscopy for the detection of colorectal polyps. N Engl J Med 1999;341:1496-1503.
  16. Pickhardt PJ, Choi JR, Hwang I, Butler JA, Puckett ML, Hildebrandt HA, Wong RK, Nugent PA, Mysliwiec PA, Schindler WR. Computed tomographic virtual colonoscopy to screen for colorectal neoplasia in asymptomatic adults. N Engl J Med 2003;349:2191-2200.
  17. Cotton PB, Durkalski VL, Pineau BC, Palesch YY, Mauldin PD, Hoffman B, Vining DJ, Small WC, Affronti J, Rex D, Kopecky KK, Ackerman S, Burdick JS, Brewington C, Turner MA,  Zfass A, Wright AR, Iyer RB, Lynch P, Sivak M, Butler H. Computed tomographic colonography (virtual colonoscopy): a multicenter comparison with standard colonoscopy for detection of colorectal neoplasia. JAMA 2004;291:1713-1719.
  18. Rockey D, Paulson E, Niedzwiecki D, Davis W, Bosworth HB, Sanders L, Yee J, Henderson J, Hatten P, Burdick S, Sanyal A, Rubin DT, Sterling M, Akerkar G, Bhutani MS, Binmoeller K, Garvie J, Bini EJ, McQuaid K, Foster WL, Thompson WM, Dachman A, Halvorsen R. Analysis of air contrast barium enema, computed tomographic colonography, and colonoscopy: prospective comparison. Lancet 2005;365:305-311.
  19. Mulhall BP, Veerappan GR, Jackson JL. Meta-analysis: computed tomographic colonography. Ann Intern Med 2005;142:635-650.
  20. Johnson CD, Chen M-H, Toledano AY, et al. Accuracy of CT colonography for detection of large adenomas and cancers. N Engl J Med 2008;359:1207-1217.
  21. Imperiale TF, Ransohoff DF, Itzkowitz SH, et al. Fecal DNA versus fecal occult blood for colorectal cancer screening in an average-risk population. N Engl J Med 2004;351:2704-2714.
  22. Ahlquist DA, Skoletsky JE, Boynton KA, et al. Colorectal cancer screening by detection of altered human DNA in stool: feasibility of a multitarget assay panel. Gastroenterology 2000;119:1219-1227.
  23. Calistri D, Rengucci C, Bocchini R, et al. Fecal multiple molecular tests to detect colorectal cancer in stool. Clin Gastroenterol Hepatol 2003;1:377-383.
  24. Tagore KS, Lawson MJ, Yucaitis JA, et al. Sensitivity and specificity of a stool DNA multitarget assay panel for the detection of advanced colorectal neoplasia. Clin Colorectal Cancer 2003;3:47-53.
  25. Brand RE, Ross ME, Shuber AP. Reproducibility of a multitarget stool-based DNA assay for colorectal cancer detection. Am J Gastroenterol 2004;99:1338-1341.
  26. Syngal S, Stoffel E, Chung D, et al. Detection of stool DNA mutations before and after treatment of colorectal neoplasias. Cancer 2006;106:277-283.
  27. Itzkowitz SH, Jandorf L, Brand R, et al. Improved fecal DNA test for colorectal cancer screening. Clin Gastroenterol Hepatol 2007;5:111-117.
  28. Zauber AG, Winawer SJ, O'Brien MJ, Lansdorp-Vogelaar I, van Ballegooijen M, Hankey BF, Shi W, Bond JH, Schapiro M, Panish JF, Stewart ET, Waye JD. Colonoscopic polypectomy and long-term prevention of colorectal-cancer deaths. N Engl J Med. 2012 Feb 23;366(8):687-96.
  29. Winawer S, Fletcher R, Rex D, Bond J, Burt R, Ferrucci J, Ganiats T, Levin T, Woolf S, Johnson D, Kirk L, Litin S, Simmang C. Colorectal cancer screening and surveillance: clinical guidelines and rationale — Update based on new evidence. Gastroenterology, 2003;124:544-560.
  30. Levin B, Barthel J, Burt R, David D, Giardiello F, Gruber S, Halverson A, Hamilton S, Ludwig K, Lynch P, Marino C, Martin E, Mayer R, Pirrucello S, Rajput A, Sambasiva Rao M, Wasif Saif M, Shike M, Steinback G, Weinberg D, Winawer S (2005) National Comprehensive Cancer Network. Clinical Practice Guidelines in Oncology. Colorectal Screening. Vol 1.
  31. Campbell WJ, Spence RA, Parks TG. Familial adenomatous polyposis. Br J Surg, 1994;81:1722-33.
  32. Burt RW, Leppert MF, Slattery ML, et al. Genetic testing and phenotype in a large kindred with attenuated familial adenomatous polyposis. Gastroenterology 2004;127:444-51.
  33. Kinzler KW, Nilbert MC, Su LK, et al. Identification of FAP locus genes from chromosome 5q21. Science 1991;253:661-5.
  34. Spirio L, Olschwang S, Groden J, et al. Alleles of the APC gene: an attenuated form of familial polyposis. Cell 1993;75:951-7.
  35. Sieber OM, Lipton L, Crabtree M, et al. Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MYH. N Engl J Med 2003; 348:791-9.
  36. Laken SJ, Petersen GM, Gruber SB, et al. Familial colorectal cancer in Ashkenazim due to a hypermutable tract in APC. Nat Genet 1997;17:79-83.
  37. Syngal S, Schrag D, Falchuk M, et al. Phenotypic characteristics associated with the APC gene I1307K mutation in Ashkenazi Jewish patients with colorectal polyps. JAMA 2000;284:857-60.
  38. King JE, Dozois RR, Lindor NM, et al. Care of patients and their families with familial adenomatous polyposis. Mayo Clin Proc 2000;75:57-67.
  39. Hernegger GS, Moore HG, Guillem JG. Attenuated familial adenomatous polyposis: an evolving and poorly understood entity. Dis Colon Rectum 2002;45:127-34; Discussion 134-6.
  40. Hampel H, Peltomaki P. Hereditary colorectal cancer: risk assessment and management. Clin Genet 2000;58:89-97.
  41. Giardiello FM, Yang VW, Hylind LM, et al. Primary chemoprevention of familial adenomatous polyposis with sulindac. N Engl J Med 2002;346:1054-9.
  42. Parc YR, Olschwang S, Desaint B, et al. Familial adenomatous polyposis: prevalence of adenomas in the ileal pouch after restorative proctocolectomy. Ann Surg 2001;233:360-4.
  43. Phillips RK, Wallace MH, Lynch PM, et al. A randomised, double blind, placebo controlled study of celecoxib, a selective cyclooxygenase 2 inhibitor, on duodenal polyposis in familial adenomatous polyposis. Gut 2002;50:857-60.
  44. Burke W, Petersen G, Lynch P, Botkin J, Daly M, Garber J, Kahn MJ Ellis, McTiernan A, Offit K, Thomson E, Varricchio C. Recommendations for follow-up care of individuals with an inherited predisposition to cancer. 1. HNPCC. Journal of the American Medical Association 1997;277(11):915-919.
  45. Bailey-Wilson JE, Elston RC, Schuelke GS, et al. Segregation analysis of hereditary nonpolyposis colorectal cancer. Genet Epidemiol 1986;3:27-38.
  46. Vasen HF, Taal BG, Griffioen G, et al. Clinical heterogeneity of familial colorectal cancer and its influence on screening protocols. Gut 1994;35:1262-6.
  47. Aarnio M, Sankila R, Pukkala E, et al. Cancer risk in mutation carriers of DNA-mismatch-repair genes. Int J Cancer 1999;81:214-8.
  48. Watson P, Lynch HT. Extracolonic cancer in hereditary nonpolyposis colorectal cancer. Cancer 1993;71:677-85.
  49. 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 2004;96:261-8.
  50. Leach FS, Nicolaides NC, Papadopoulos N, et al. Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer. Cell 1993;75:1215-25.
  51. Fishel R, Lescoe MK, Rao MR, et al. The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer. Cell 1993;75:1027-38.
  52. Bronner CE, Baker SM, Morrison PT, et al. Mutation in the DNA mismatch repair gene homologue hMLH1 is associated with hereditary non-polyposis colon cancer. Nature 1994;368:258-61.
  53. Liu B, Parsons R, Papadopoulos N, et al. Analysis of mismatch repair genes in hereditary non-polyposis colorectal cancer patients. Nat Med 1996;2:169-74.
  54. Wijnen JT, Vasen HF, Khan PM, et al. Clinical findings with implications for genetic testing in families with clustering of colorectal cancer. N Engl J Med 1998;339:511-8.
  55. Boland CR, Thibodeau SN, Hamilton SR, et al. A National Cancer Institute Workshop on Microsatellite Instability for cancer detection and familial predisposition: development of international criteria for the determination of microsatellite instability in colorectal cancer. Cancer Res 1998;58:5248-57.
  56. Aaltonen LA, Peltomaki P, Leach FS, et al. Clues to the pathogenesis of familial colorectal cancer. Science 1993;260:812-6.
  57. Thibodeau SN, Bren G, Schaid D. Microsatellite instability in cancer of the proximal colon. Science 1993;260:816-9.
  58. Lindor NM, Burgart LJ, Leontovich O, et al. Immunohistochemistry versus microsatellite instability testing in phenotyping colorectal tumors. J Clin Oncol 2002;20:1043-8.
  59. Cunningham JM, Christensen ER, Tester DJ, et al. Hypermethylation of the hMLH1 promoter in colon cancer with microsatellite instability. Cancer Res 1998;58:3455-60.
  60. Cunningham JM, Kim CY, Christensen ER, et al. The frequency of hereditary defective mismatch repair in a prospective series of unselected colorectal carcinomas. Am J Hum Genet 2001;69:780-90.
  61. Jarvinen HJ, Mecklin JP, Sistonen P.  Screening reduces colorectal cancer rate in families with hereditary nonpolyposis colorectal cancer. Gastroenterology 1995;108:1405-11.
  62. Jarvinen HJ, Aarnio M, Mustonen H, et al. Controlled 15-year trial on screening for colorectal cancer in families with hereditary nonpolyposis colorectal cancer. Gastroenterology 2000;118:829-34.
  63. Vasen HF, Nagengast FM, Khan PM. Interval cancers in hereditary non-polyposis colorectal cancer (Lynch syndrome). Lancet 1995; 345:1183-4.
  64. Lynch HT, Smyrk T, Lynch J. An update of HNPCC (Lynch syndrome). Cancer Genet Cytogenet 1997;93:84-99.
  65. Rodriguez-Bigas MA. Prophylactic colectomy for gene carriers in hereditary nonpolyposis colorectal cancer. Has the time come? Cancer 1996; 78:199-201.
  66. Lynch PM. COX-2 inhibition in clinical cancer prevention. Oncology (Huntingt) 2001;15:21-6.
  67. Giardiello FM, Brensinger JD, Petersen GM. AGA technical review on hereditary colorectal cancer and genetic testing. Gastroenterology 2001; 121:198-213.
  68. Benson AB, 3rd, Choti MA, Cohen AM, et al. NCCN Practice Guidelines for Colorectal Cancer. Oncology (Huntingt) 2000;14:203-12.
  69. Schulmann K, Brasch FE, Kunstmann E, et al. HNPCC-associated small bowel cancer: clinical and molecular characteristics. Gastroenterology 2005; 128:590-9.
  70. Burke W, Petersen G, Lynch P, et al. Recommendations for follow-up care of individuals with an inherited predisposition to cancer. I. Hereditary nonpolyposis colon cancer. Cancer Genetics Studies Consortium. JAMA 1997;277:915-9.
  71. Dove-Edwin I, Boks D, Goff S, et al. The outcome of endometrial carcinoma surveillance by ultrasound scan in women at risk of hereditary nonpolyposis colorectal carcinoma and familial colorectal carcinoma. Cancer 2002;94:1708-12.
  72. Rijcken FEM, Mourits MJE, Kleibeuker JH, et al. Gynecologic screening in hereditary nonpolyposis colorectal cancer. Gynecol Oncol 2000;91:74-80. 
  73. Lu KH et al. Prophylactic gynecologic surgery to reduce risk in Lynch syndrome. N Engl J Med 2006;354:261-269.
  74. Offit K, Kauff ND. Reducing the risk of gynecologic cancer in the Lynch syndrome (editorial) N Engl J Med 2006;354:293-295.
  75. Garber JE, Offit K. Hereditary cancer predisposition syndromes. Journal of Clinical Oncology 2005;23:276-92.
  76. Offit K, Garber J, Grady M, Greene MH, Gruber S, Peshkin B, Rodriguez-Bigas M, Trimbath J, Weitzel J.  ASCO Curriculum: Cancer Genetics & Cancer Predisposition Testing, 2nd edition.  Alexandria, VA: ASCO Publishing; 2004.