Genetic/familial high-risk assessment: Colorectal version 1.2016: Clinical practice guidelines in oncology

JNCCN Journal of the National Comprehensive Cancer Network

Volumn 14, Issue 8, 2016, Pages 1010-1030

  Provenzale, Dawn ^a   Gupta, Samir ^b   Ahnen, Dennis J ^c   Bray, Travis ^d   Cannon, Jamie A ^e   Cooper, Gregory ^f   David, Donald S ^g   Early, Dayna S ^h   Erwin, Deborah ⁱ   Ford, James M ^j   Giardiello, Francis M ^k   Grady, William ^l   Halverson, Amy L ^m   Hamilton, Stanley R ⁿ   Hampel, Heather ^o   Ismail, Mohammad K ^p   Klapman, Jason B ^q   Larson, David W ^r   Lazenby, Audrey J ^s   Lynch, Patrick M ⁿ   Mayer, Robert J ^t   Ness, Reid M ^u   Regenbogen, Scott E ^v   Samadder, Niloy Jewel ^w   Shike, Moshe ^x   Steinbach, Gideon ^l   Weinberg, David ^y   Dwyer, Mary ^a   Darlow, Susan ^a   more..

^a DUKE CANCER INSTITUTE   (United States)

^b UNIVERSITY OF CALIFORNIA SAN DIEGO   (United States)

^c UNIVERSITY OF COLORADO   (United States)

^d Hereditary Colon Cancer Foundation   (United States)

^e UNIVERSITY OF ALABAMA AT BIRMINGHAM   (United States)

^f UNIVERSITY HOSPITALS OF CLEVELAND   (United States)

^g CITY OF HOPE NATIONAL MEDICAL CENTER   (United States)

^h BARNES JEWISH HOSPITAL   (United States)

ⁱ ROSWELL PARK CANCER INSTITUTE   (United States)

^j STANFORD CANCER INSTITUTE   (United States)

^k JOHNS HOPKINS UNIVERSITY   (United States)

^l SEATTLE CANCER CARE ALLIANCE   (United States)

^m NORTHWESTERN UNIVERSITY   (United States)

ⁿ UNIVERSITY OF TEXAS MD ANDERSON CANCER CENTER   (United States)

^o OHIO STATE UNIVERSITY   (United States)

^p ST JUDE CHILDREN S RESEARCH HOSPITAL   (United States)

^q H LEE MOFFITT CANCER CENTER AND RESEARCH INSTITUTE   (United States)

^r MAYO CLINIC CANCER CENTER   (United States)

^s UNIVERSITY OF NEBRASKA MEDICAL CENTER   (United States)

^t DANA FARBER BRIGHAM AND WOMEN S CANCER CENTER   (United States)

^u VANDERBILT INGRAM CANCER CENTER   (United States)

^v UNIVERSITY OF MICHIGAN COMPREHENSIVE CANCER CENTER   (United States)

^w UNIVERSITY OF UTAH   (United States)

^x MEMORIAL SLOAN KETTERING CANCER CENTER   (United States)

^y FOX CHASE CANCER CENTER   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

EPITHELIAL CELL ADHESION MOLECULE;

ARTICLE; CANCER EPIDEMIOLOGY; CANCER RISK; CANCER SCREENING; CANCER STAGING; CHEMOPROPHYLAXIS; CLINICAL EVALUATION; COLON CANCER; COLORECTAL CANCER; ENDOMETRIUM CANCER; EVIDENCE BASED PRACTICE; FOLLOW UP; GENETIC FAMILIAL HIGH RISK ASSESSMENT; GENETIC RISK; GENETIC SCREENING; GERMLINE MUTATION; HEREDITARY COLORECTAL CANCER; HEREDITARY NONPOLYPOSIS COLORECTAL CANCER; HIGH RISK POPULATION; HUMAN; IMMUNOHISTOCHEMISTRY; MANAGED CARE; META ANALYSIS (TOPIC); MICROSATELLITE INSTABILITY; MISMATCH REPAIR; ONCOLOGY; OVARY CANCER; PRACTICE GUIDELINE; RANDOMIZED CONTROLLED TRIAL (TOPIC); RISK ASSESSMENT; RISK FACTOR; SCREENING TEST; SYSTEMATIC REVIEW (TOPIC); COLORECTAL NEOPLASMS; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; DISEASE MANAGEMENT; EARLY CANCER DIAGNOSIS; GENETICS; HEALTH SURVEY; PROCEDURES;

COLORECTAL NEOPLASMS; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; DISEASE MANAGEMENT; EARLY DETECTION OF CANCER; GERM-LINE MUTATION; HUMANS; POPULATION SURVEILLANCE; RISK ASSESSMENT;

EID: 84982980766     PISSN: 15401405     EISSN: 15401413     Source Type: Journal    
DOI: 10.6004/jnccn.2016.0108     Document Type: Article

References (84)

1. Siegel RL, Miller KD, Jemal A. Cancer statistics, 2015. CA Cancer J Clin 2015;65:5-29.
2. Burt R, Neklason DW. Genetic testing for inherited colon cancer. Gastroenterology 2005;128:1696-1716.
3. Giardiello FM, Offerhaus JG. Phenotype and cancer risk of various polyposis syndromes. Eur J Cancer 1995;31 A: 1085-1087.
4. Hamilton SR, Liu B, Parsons RE, et al. The molecular basis of Turcot's syndrome. N Engl J Med 1995;332:839-847.
5. Aaltonen LA, Salovaara R, Kristo P, et al. Incidence of hereditary nonpolyposis colorectal cancer and the feasibility of molecular screening for the disease. N Engl J Med 1998;338:1481-1487.
6. Hampel H, Frankel WL, Martin E, et al. Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer). N Engl J Med 2005;352:1851-1860.
7. Hampel H, Frankel WL, Martin E, et al. Feasibility of screening for Lynch syndrome among patients with colorectal cancer. J Clin Oncol 2008;26:5783-5788.
8. Lynch HT, De La Chapelle A. Hereditary colorectal cancer. N Engl J Med 2003;348:919-932.
9. Boland CR, Goel A. Microsatellite instability in colorectal cancer. Gastroenterology 2010;138:2073-2087 e2073.
10. Kempers MJ, Kuiper RP, Ockeloen CW, et al. Risk of colorectal and endometrial cancers in EPCAM deletion-positive Lynch syndrome: a cohort study. Lancet Oncol 2011;12:49-55.
11. Rumilla K, Schowalter KV, Lindor NM, et al. Frequency of deletions of EPCAM (TACSTD1) in MSH2-associated Lynch syndrome cases. J Mol Diagn 2011;13:93-99.
12. Vasen HF, Watson P, Mecklin JP, Lynch HT. New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative group on HNPCC. Gastroenterology 1999;116:1453-1456.
13. Vasen HF. Clinical diagnosis and management of hereditary colorectal cancer syndromes. J Clin Oncol 2000;18:81S-92S.
14. Barnetson RA, Tenesa A, Farrington SM, et al. Identification and survival of carriers of mutations in DNA mismatch-repair genes in colon cancer. N Engl J Med 2006;354:2751-2763.
15. Rodriguez-Bigas MA, Boland CR, Hamilton SR, et al. A National Cancer Institute Workshop on Hereditary Nonpolyposis Colorectal Cancer Syndrome: meeting highlights and Bethesda guidelines. J Natl Cancer Inst 1997;89:1758-1762.
16. 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;96:261-268.
17. Raedle J, Trojan J, Brieger A, et al. Bethesda guidelines: relation to microsatellite instability and MLH1 promoter methylation in patients with colorectal cancer. Ann Intern Med 2001;135:566-576.
18. Pinol V, Castells A, Andreu M, et al. Accuracy of revised Bethesda guidelines, microsatellite instability, and immunohistochemistry for the identification of patients with hereditary nonpolyposis colorectal cancer. JAMA 2005;293:1986-1994.
19. Balmana J, Stockwell DH, Steyerberg EW, et al. Prediction of MLH1 and MSH2 mutations in Lynch syndrome. JAMA 2006;296:1469-1478.
20. Chen S, Wang W, Lee S, et al. Prediction of germline mutations and cancer risk in the Lynch syndrome. JAMA 2006;296:1479-1487.
21. Kastrinos F, Steyerberg EW, Mercado R, et al. The PREMM (1, 2, 6) model predicts risk of MLH1, MSH2, and MSH6 germline mutations based on cancer history. Gastroenterology 2011;140:73-81.
22. Bonadona V, Bonaiti B, Olschwang S, et al. Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome. JAMA 2011;305:2304-2310.
23. Kohlmann W, Gruber S. Lynch Syndrome. GeneReviews at GeneTests: Medical Genetics Information Resource 2014.
24. Moreira L, Balaguer F, Lindor N, et al. Identification of Lynch syndrome among patients with colorectal cancer. JAMA 2012;308:1555-1565.
25. 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 2009;11:35-41.
26. Ladabaum U, Wang G, Terdiman J, et al. Strategies to identify the Lynch syndrome among patients with colorectal cancer: a cost-effectiveness analysis. Ann Intern Med 2011;155:69-79.
27. 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 2009;11:42-65.
28. Balmana J, Balaguer F, Cervantes A, Arnold D. Familial risk-colorectal cancer: ESMO Clinical Practice Guidelines. Ann Oncol 2013;24 Suppl 6: vi73-80.
29. Giardiello FM, Allen JI, Axilbund JE, et al. Guidelines on genetic evaluation and management of Lynch syndrome: a consensus statement by the US Multi-Society Task Force on colorectal cancer. Gastroenterology 2014;147:502-526.
30. Goodfellow PJ, Billingsley CC, Lankes HA, et al. Combined microsatellite instability, MLH1 methylation analysis, and immunohistochemistry for Lynch syndrome screening in endometrial cancers from GOG210: an NRG Oncology and Gynecologic Oncology Group study. J Clin Oncol 2015;33:4301-4308.
31. Marquez E, Geng Z, Pass S, et al. Implementation of routine screening for Lynch syndrome in university and safety-net health system settings: successes and challenges. Genet Med 2013;15:925-932.
32. Hendriks YM, De Jong AE, Morreau H, et al. Diagnostic approach and management of Lynch syndrome (hereditary nonpolyposis colorectal carcinoma): a guide for clinicians. CA Cancer J Clin 2006;56:213-225.
33. 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;58:5248-5257.
34. Xicola RM, Llor X, Pons E, et al. Performance of different microsatellite marker panels for detection of mismatch repair-deficient colorectal tumors. J Natl Cancer Inst 2007;99:244-252.
35. Caldes T, Godino J, Sanchez A, et al. Immunohistochemistry and microsatellite instability testing for selecting MLH1, MSH2 and MSH6 mutation carriers in hereditary non-polyposis colorectal cancer. Oncol Rep 2004;12:621-629.
36. Vasen HF, Hendriks Y, De Jong AE, et al. Identification of HNPCC by molecular analysis of colorectal and endometrial tumors. Dis Markers 2004;20:207-213.
37. Hampel H, Frankel W, Panescu J, et al. Screening for Lynch syndrome (hereditary nonpolyposis colorectal cancer) among endometrial cancer patients. Cancer Res 2006;66:7810-7817.
38. Lindor NM, Burgart LJ, Leontovich O, et al. Immunohistochemistry versus microsatellite instability testing in phenotyping colorectal tumors. J Clin Oncol 2002;20:1043-1048.
39. Reyes CM, Allen BA, Terdiman JP, Wilson LS. Comparison of selection strategies for genetic testing of patients with hereditary nonpolyposis colorectal carcinoma: effectiveness and cost-effectiveness. Cancer 2002;95:1848-1856.
40. Shia J, Klimstra DS, Nafa K, et al. Value of immunohistochemical detection of DNA mismatch repair proteins in predicting germline mutation in hereditary colorectal neoplasms. Am J Surg Pathol 2005;29:96-104.
41. Pino MS, Chung DC. Application of molecular diagnostics for the detection of Lynch syndrome. Expert Rev Mol Diagn 2010;10:651-665.
42. Stoffel EM, Mangu PB, Gruber SB, et al. Hereditary colorectal cancer syndromes: American Society of Clinical Oncology Clinical Practice Guideline endorsement of the familial risk-colorectal cancer: European Society for Medical Oncology Clinical Practice Guidelines. J Clin Oncol 2015;33:209-217.
43. Rubenstein JH, Enns R, Heidelbaugh J, Barkun A. American Gastroenterological Association Institute Guideline on the Diagnosis and Management of Lynch Syndrome. Gastroenterology 2015;149:777-782.
44. Haraldsdottir S, Hampel H, Tomsic J, et al. Colon and endometrial cancers with mismatch repair deficiency can arise from somatic, rather than germline, mutations. Gastroenterology 2014;147:1308-1316. e1301.
45. Engel C, Loeffler M, Steinke V, et al. Risks of less common cancers in proven mutation carriers with lynch syndrome. J Clin Oncol 2012;30:4409-4415.
46. Kastrinos F, Mukherjee B, Tayob N, et al. Risk of pancreatic cancer in families with Lynch syndrome. JAMA 2009;302:1790-1795.
47. Watson P, Vasen HF, Mecklin JP, et al. The risk of extra-colonic, extraendometrial cancer in the Lynch syndrome. Int J Cancer 2008;123:444-449.
48. Win AK, Young JP, Lindor NM, et al. Colorectal and other cancer risks for carriers and noncarriers from families with a DNA mismatch repair gene mutation: a prospective cohort study. J Clin Oncol 2012;30:958-964.
49. Win AK, Lindor NM, Young JP, et al. Risks of primary extracolonic cancers following colorectal cancer in lynch syndrome. J Natl Cancer Inst 2012;104:1363-1372.
50. Lindor NM, Petersen GM, Hadley DW, et al. Recommendations for the care of individuals with an inherited predisposition to Lynch syndrome: a systematic review. JAMA 2006;296:1507-1517.
51. Syngal S, Brand RE, Church JM, et al. ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes. Am J Gastroenterol 2015;110:223-262; quiz 263.
52. Jenkins MA, Dowty JG, Ait Ouakrim D, et al. Short-term risk of colorectal cancer in individuals with lynch syndrome: a meta-analysis. J Clin Oncol 2015;33:326-331.
53. Haanstra JF, Kleibeuker JH, Koornstra JJ. Role of new endoscopic techniques in Lynch syndrome. Fam Cancer 2013;12:267-272.
54. Stoffel EM, Turgeon DK, Stockwell DH, et al. Missed adenomas during colonoscopic surveillance in individuals with Lynch Syndrome (hereditary nonpolyposis colorectal cancer). Cancer Prev Res (Phila) 2008;1:470-475.
55. Chen LM, Yang KY, Little SE, et al. Gynecologic cancer prevention in Lynch syndrome/hereditary nonpolyposis colorectal cancer families. Obstet Gynecol 2007;110:18-25.
56. Schmeler KM, Lynch HT, Chen LM, et al. Prophylactic surgery to reduce the risk of gynecologic cancers in the Lynch syndrome. N Engl J Med 2006;354:261-269.
57. Stuckless S, Green J, Dawson L, et al. Impact of gynecological screening in Lynch syndrome carriers with an MSH2 mutation. Clin Genet 2013;83:359-364.
58. ACOG Practice Bulletin No. 147: Lynch syndrome. Obstet Gynecol 2014;124:1042-1054.
59. Auranen A, Joutsiniemi T. A systematic review of gynecological cancer surveillance in women belonging to hereditary nonpolyposis colorectal cancer (Lynch syndrome) families. Acta Obstet Gynecol Scand 2011;90:437-444.
60. Jarvinen HJ, Renkonen-Sinisalo L, Aktan-Collan K, et al. Ten years after mutation testing for Lynch syndrome: cancer incidence and outcome in mutation-positive and mutation-negative family members. J Clin Oncol 2009;27:4793-4797.
61. Renkonen-Sinisalo L, Butzow R, Leminen A, et al. Surveillance for endometrial cancer in hereditary nonpolyposis colorectal cancer syndrome. Int J Cancer 2007;120:821-824.
62. Rijcken FE, Mourits MJ, Kleibeuker JH, et al. Gynecologic screening in hereditary nonpolyposis colorectal cancer. Gynecol Oncol 2003;91:74-80.
63. 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;94:1708-1712.
64. Dashti SG, Chau R, Ouakrim DA, et al. Female hormonal factors and the risk of endometrial cancer in Lynch syndrome. JAMA 2015;314:61-71.
65. Capelle LG, Van Grieken NC, Lingsma HF, et al. Risk and epidemiological time trends of gastric cancer in Lynch syndrome carriers in the Netherlands. Gastroenterology 2010;138:487-492.
66. Schulmann K, Engel C, Propping P, Schmiegel W. Small bowel cancer risk in Lynch syndrome. Gut 2008;57:1629-1630.
67. Ten Kate GL, Kleibeuker JH, Nagengast FM, et al. Is surveillance of the small bowel indicated for Lynch syndrome families? Gut 2007;56:1198-1201.
68. Koornstra JJ, Kleibeuker JH, Vasen HF. Small-bowel cancer in Lynch syndrome: is it time for surveillance? Lancet Oncol 2008;9:901-905.
69. Senter L, Clendenning M, Sotamaa K, et al. The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations. Gastroenterology 2008;135:419-428.
70. Renkonen-Sinisalo L, Sipponen P, Aarnio M, et al. No support for endoscopic surveillance for gastric cancer in hereditary non-polyposis colorectal cancer. Scand J Gastroenterol 2002;37:574-577.
71. Vasen HF, Blanco I, Aktan-Collan K, et al. Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts. Gut 2013;62:812-823.
72. Correa P, Haenszel W, Cuello C, et al. A model for gastric cancer epidemiology. Lancet 1975;2:58-60.
73. Blaser MJ. Hypothesis: the changing relationships of Helicobacter pylori and humans: implications for health and disease. J Infect Dis 1999;179:1523-1530.
74. Joost P, Therkildsen C, Dominguez-Valentin M, et al. Urinary tract cancer in Lynch syndrome: increased risk in carriers of MSH2 mutations. Urology 2015;86:1212-1217.
75. Mork M, Hubosky SG, Roupret M, et al. Lynch syndrome: a primer for urologists and panel recommendations. J Urol 2015;194:21-29.
76. Skeldon SC, Semotiuk K, Aronson M, et al. Patients with Lynch syndrome mismatch repair gene mutations are at higher risk for not only upper tract urothelial cancer but also bladder cancer. Eur Urol 2013;63:379-385.
77. Win AK, Lindor NM, Jenkins MA. Risk of breast cancer in Lynch syndrome: a systematic review. Breast Cancer Res 2013;15:R27.
78. Haraldsdottir S, Hampel H, Wei L, et al. Prostate cancer incidence in males with Lynch syndrome. Genet Med 2014;16:553-557.
79. Wimmer K, Kratz CP, Vasen HF, et al. Diagnostic criteria for constitutional mismatch repair deficiency syndrome: suggestions of the European consortium 'care for CMMRD' (C4CMMRD). J Med Genet 2014;51:355-365.
80. Burn J, Gerdes AM, Macrae F, et al. Long-term effect of aspirin on cancer risk in carriers of hereditary colorectal cancer: an analysis from the CAPP2 randomised controlled trial. Lancet 2011;378:2081-2087.
81. Movahedi M, Bishop DT, Macrae F, et al. Obesity, aspirin, and risk of colorectal cancer in carriers of hereditary colorectal cancer: a prospective investigation in the CAPP2 study. J Clin Oncol 2015.
82. Cleland JG. Does aspirin really reduce the risk of colon cancer? Lancet 2012;379:1586; author reply 1587.
83. Jankowski J, Barr H, Moayyedi P. Does aspirin really reduce the risk of colon cancer? Lancet 2012;379:1586-1587; author reply 1587.
84. Ait Ouakrim D, Dashti SG, Chau R, et al. Aspirin, ibuprofen, and the risk of colorectal cancer in Lynch syndrome. J Natl Cancer Inst 2015;107.