Guidelines on genetic evaluation and management of lynch syndrome: A consensus statement by the us multi-society task force on colorectal cancer

Gastroenterology

Volumn 147, Issue 2, 2014, Pages 502-526

  Giardiello, Francis M ^a   Allen, John I ^b   Axilbund, Jennifer E ^a   Boland, C Richard ^c   Burke, Carol A ^d   Burt, Randall W ^e   Church, James M ^d   Dominitz, Jason A ^f,g   Johnson, David A ^h   Kaltenbach, Tonya ⁱ   Levin, Theodore R ^j   Lieberman, David A ^k   Robertson, Douglas J ^l,m   Syngal, Sapna ^n,o,p   Rex, Douglas K ^q  

^a JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c BAYLOR UNIVERSITY MEDICAL CENTER   (United States)

^d LERNER RESEARCH INSTITUTE   (United States)

^e UNIVERSITY OF UTAH   (United States)

^f VA PUGET SOUND HEALTH CARE SYSTEM   (United States)

^g UNIVERSITY OF WASHINGTON   (United States)

^h EASTERN VIRGINIA MEDICAL SCHOOL   (United States)

ⁱ STANFORD UNIVERSITY   (United States)

^j KAISER PERMANENTE MEDICAL CENTER   (United States)

^k OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^l VA MEDICAL CENTER   (United States)

^m DARTMOUTH MEDICAL SCHOOL   (United States)

ⁿ BRIGHAM AND WOMEN S HOSPITAL   (United States)

^o DANA FARBER CANCER INSTITUTE   (United States)

^p HARVARD MEDICAL SCHOOL   (United States)

^q INDIANA UNIVERSITY SCHOOL OF MEDICINE   (United States)

more..

Author keywords

Colorectal Cancer; Genetic Testing; Lynch Syndrome

Indexed keywords

B RAF KINASE; MISMATCH REPAIR PROTEIN; PROTEIN MLH1;

ARTICLE; CANCER DIAGNOSIS; CANCER PREVENTION; CANCER RISK; CANCER SCREENING; CLINICAL FEATURE; COLON RESECTION; COMPUTATIONAL MODEL; DIFFERENTIAL DIAGNOSIS; ENDOMETRIUM CANCER; GENE MUTATION; GENETIC COUNSELING; GENETIC SCREENING; GERMLINE MUTATION; HEALTH CARE PERSONNEL; HEREDITARY NONPOLYPOSIS COLORECTAL CANCER; HETEROZYGOSITY; HUMAN; HYSTERECTOMY; ILEORECTAL ANASTOMOSIS; IMMUNOHISTOCHEMISTRY; INFORMATION RETRIEVAL; MEDICAL SOCIETY; MICROSATELLITE INSTABILITY; MODEL; OVARIECTOMY; OVARY CANCER; PANCREAS CANCER; PELVIC EXAMINATION; PRACTICE GUIDELINE; PRIORITY JOURNAL; PUBLICATION; RISK ASSESSMENT; SMALL INTESTINE CANCER; SOMATIC MUTATION; STOMACH CANCER; TRANSVAGINAL ECHOGRAPHY; UROGENITAL TRACT CANCER;

COLORECTAL CANCER; GENETIC TESTING; LYNCH SYNDROME;

ALGORITHMS; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; GASTROENTEROLOGY; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; GENETIC THERAPY; HUMANS; PEDIGREE; PREDICTIVE VALUE OF TESTS; PROGNOSIS; RISK ASSESSMENT; RISK FACTORS;

EID: 84904701595     PISSN: 00165085     EISSN: 15280012     Source Type: Journal    
DOI: 10.1053/j.gastro.2014.04.001     Document Type: Article

References (164)

1. R. Siegel, D. Naishadham, and A. Jemal Cancer statistics, 2013 CA Cancer J Clin 63 2013 11 30
2. E.A. Platz, W.C. Willett, and G.A. Colditz et al. Proportion of colorectal cancer risk that might be preventable in a cohort of middle-aged US men Cancer Causes Control 11 2000 579 588
3. P. Lichtenstein, N.V. Holm, and P.K. Verkasalo Environmental and heritable factors in the causation of cancer - analysis of cohorts of twins from Sweden, Denmark, and Finland N Engl J Med 343 2000 78 85
4. L.A. Aaltonen, R. Salovaara, and P. Kristo et al. Incidence of hereditary nonpolyposis colorectal cancer and the feasibility of molecular screening of the disease N Engl J Med 338 1998 1481 1487
5. R.A. Barnetson, A. Tenesa, and S.M. Farrington et al. Identification and survival of carriers of mutations in DNA mismatch-repair genes in colon cancer N Engl J Med 354 2006 2751 2763
6. H. Hampel, W.L. Frankel, and E. Martin et al. Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer) N Engl J Med 352 2005 1851 1860
7. V. Pinol, A. Castells, and M. Andreu et al. Gastrointestinal Oncology Group of the Spanish Gastroenterology Association, accuracy of revised Bethesda guidelines, microsatellite instability, and immunohistochemistry for the identification of patients with hereditary nonpolyposis colorectal cancer JAMA 293 2005 1986 1994
8. R. Salovaara, A. Loukkola, and P. Kristo et al. Population-based molecular detection of hereditary nonpolyposis colorectal cancer J Clin Oncol 182 2000 193 200
9. H.T. Lynch, M.W. Shaw, and C.W. Magnuson et al. Hereditary factors in cancer. Study of two large midwestern kindreds Arch Intern Med 117 1966 206 212
10. R. Fishel, M.K. Lescoe, and M.R.S. Rao et al. The human mutator gene homolog hMSH2 and its association with hereditary nonpolyposis colon cancer Cell 75 1993 1027 1038
11. F.S. Leach, N. Nicolaides, and N. Papadopoulos et al. Mutations of a MutS homolog in hereditary non-polyposis colorectal cancer Cell 75 1993 1215 1255
12. N. Papadopoulos, N.C. Nicolaides, and Y.-F. Wei et al. Mutation of a mutL homolog in hereditary colon cancer Science 263 1994 1625 1629
13. C.E. Bronner, S.M. Baker, and P.T. Morrison et al. Mutations in the DNA mismatch repair gene homologue hMLH1 is associated with hereditary nonpolyposis colon cancer Nature 368 1994 258 261
14. National Cancer Institute. Levels of evidence for cancer genetic studies (PDQ). 2012. Available at: http://www.cancer.gov/cancertopics/pdq/levels- evidence-genetics. Accessed November 1, 2013.
15. G.H. Guyatt, A.D. Oxman, and G.E. Vist et al. GRADE: an emerging consensus on rating quality of evidence and strength of recommendations BMJ 336 2008 924 926
16. C.R. Boland, and F.J. Troncale Familial colonic cancer without antecedent polyposis Ann Intern Med 100 1984 700 701
17. V. Bonadona, B. Bonaïti, and S. Olschwang et al. Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome JAMA 30 2011 2304 2310
18. M.G. Dunlap, S.M. Farrington, and A.D. Carothers et al. Cancer risk associated with germline DNA mismatch repair gene mutations Hum Mol Genet 6 1997 105 110
19. F. Quehenberger, H.F. Vasen, and H.C. van Houwelingen Risk of colorectal and endometrial cancer for carriers of mutations of the hMLH1 and hMSH2 gene: correction for ascertainment J Med Genet 42 2005 491 496
20. M.A. Jenkins, L. Baglietto, and J.G. Dowty et al. Cancer risks for mismatch repair gene mutation carriers: a population-based early onset care-family study Clin Gastroenterol Hepatol 4 2006 489 498
21. F. Alarcon, C. Lasset, and J. Carayol et al. Estimating cancer risk in HNPCC by the BRL method Eur J Hum Genet 15 2007 831 836
22. L. Baglietto, N.M. Lindor, and J.G. Dowty et al. Risks of Lynch syndrome cancers for MSH6 mutation carriers J Natl Cancer Inst 102 2010 193 201
23. Y.H. Choi, M. Cotterchio, and G. McKeown-Eyssen et al. Penetrance of colorectal cancer among MLH1/MSH2 carriers participating in the colorectal cancer familial registry in Ontario Hered Cancer Clin Pract 7 2009 14
24. Y.M. Hendriks, A. Wagner, and H. Morreau et al. Cancer risk in hereditary nonpolyposis colorectal cancer due to MSH6 mutations: impact on counseling and surveillance Gastroenterology 127 2004 17 25
25. L. Senter, M. Clendenning, and K. Sotamaa et al. The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations Gastroenterology 135 2008 419 428
26. H. Hampel, W.L. Frankel, and E. Martin et al. Feasibility of screening for Lynch syndrome among patients with colorectal cancer J Clin Oncol 26 2008 5783 5788
27. H.R. Vasen Clinical description of the Lynch syndrome [hereditary nonpolyposis colorectal cancer (HNPCC)] Fam Cancer 4 2005 219 225
28. H. Hampel, J.A. Stephens, and E. Pukkala et al. Cancer risk in hereditary nonpolyposis colorectal cancer syndrome: later age of onset Gastroenterology 129 2005 415 421
29. Howlader N, Noone AM, Krapcho M, et al., eds. SEER Cancer Statistics Review, 1975-2009 (Vintage 2009 Populations). Bethesda, MD: National Cancer Institute. Available at: http://seer.cancer.gov/csr/1975-2009-pops09/. Accessed November 1, 2013.
30. H.T. Lynch, T.C. Smyrk, and P. Watson et al. Genetics, natural history, tumor spectrum, and pathology of hereditary nonpolyposis colorectal cancer: an update review Gastroenterology 104 1993 1535 1549
31. W.H. de Vos tot Nederveen Cappel, F.M. Nagengast, and G. Griffioen et al. Survellance for hereditary nonpolyposis colorectal cancer: a long-term study of 114 families Dis Colon Rectum 45 2002 1588 1594
32. S. Parry, A.K. Win, and B. Parry et al. Metachronous colorectal cancer risk for mismatch repair gene mutation carriers: the advantage of more extensive colon surgery Gut 60 2011 950 957
33. A.K. Win, S. Parry, and B. Parry et al. Risk of metachronous colon cancer following surgery for rectal cancer in mismatch repair gene mutation carriers Ann Surg Oncol 20 2013 1829 1836
34. D.L. Edelstein, J.E. Axilbund, and M. Baxter et al. Rapid development of colorectal neoplasia in patients with Lynch syndrome Clin Gastroenterol Hepatol 9 2011 340 343
35. J.R. Jass, S.M. Stewart, and J. Stewart et al. Hereditary nonpolyposis colorectal cancer - morphologies, genes and mutations Mut Res 310 1994 125 133
36. M.A. Jenkins, S. Hayashi, and A.M. O'Shea et al. Pathology features in Bethesda guidelines predict colorectal cancer microsatellite instability: a population based study Gastroenterology 133 2007 48 56
37. P. Peltomaki, G.J.A. Offerhaus, and H.F.A. Vasen Lynch syndrome F.T. Bosman, F. Carneiro, R.H. Hruban, WHO classification of tumors of the digestive system 2010 Stylus Publishing Sterling, VA 152 155
38. R. Gryfe, H. Kim, and E.T.K. Hsieh et al. Tumor microsatellite instability and clinical outcome in young patients with colorectal cancer N Engl J Med 342 2000 69 77
39. M. Aarnio, R. Sankila, and E. Pukkala et al. Cancer risk in mutation carriers of DNA-mismatch-repair genes Int J Cancer 81 1999 214 218
40. H.R. Vasen, A. Stormorken, and F.H. Menko et al. MSH2 mutation carriers are a higher risk for cancer than MLH1 mutation carriers: a study of hereditary nonpolyposis colorectal cancer families J Clin Oncol 19 2001 4074 4080
41. G. Ponti, L. Losi, and M. Pedroni et al. Value of MLH1 and MSH2 mutations in the appearance of Muir-Torre syndrome phenotype in HNPCC patients presenting sebaceous gland tumors or kertoacanthomas J Invest Dermatol 126 2006 2302 2307
42. C.D. South, H. Hampel, and I. Comeras et al. The frequency of Muir-Torre syndrome among Lynch syndrome families J Natl Cancer Inst 100 2008 277 281
43. P. Watson, R. Burzow, and H.T. Lynch et al. The clinical features of ovarian cancer in hereditary nonpolyposis colorectal cancer Gynecol Oncol 82 2001 223 228
44. E. Barrow, L. Robinson, and W. Alduaij et al. Cumulative lifetime incidence of extracolonic cancers in Lynch syndrome: a report of 121 families with proven mutations Clin Genet 75 2009 141 149
45. M. Aarnio, R. Salovaara, and L.A. Aaltonen et al. Features of gastric cancer in hereditary non-polyposis colorectal cancer Int J Cancer 74 1997 551 555
46. P. Watson, H.F. Vasen, and J.P. Mecklin et al. The risk of extra-colonic, extra-endometrial cancer in Lynch syndrome Int J Cancer 123 2008 444 449
47. L.G. Capelle, N.C. Van Grieken, and H.F. Lingsma et al. Risk and epidemiological time trends of gastric cancer in Lynch syndrome carriers in the Netherlands Gastroenterology 138 2010 487 492
48. C. Engel, M. Loeffler, and V. Steinke et al. Risks of less common cancers in proven mutation carriers with lynch syndrome J Clin Oncol 30 2012 4409 4415
49. R.S. van der Post, L.A. Kiemeney, and M.J. Ligtenberg et al. Risk of urothelial bladder cancer in Lynch syndrome is increased, in particular among MSH2 mutation carriers J Med Genet 47 2010 464 470
50. F. Kastrinos, E.M. Stoffel, and J. Balmana et al. Phenotype comparison of MLH1 and MSH2 mutation carriers in a cohort of 1914 individuals undergoing clinical genetic testing in the United States Cancer Epidemiol Biomarkers Prev 17 2008 2044 2051
51. A.K. Win, J.P. Young, and N.M. Lindor 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 30 2012 958 964
52. Axilbund JE, Klein AP, Bacon JA, et al. Risk of pancreatic cancer in hereditary nonpolyposis colorectal cancer. Insight Meeting, Dusseldorf, Germany, June 24-27, 2009.
53. E.M. Grindedal, P. Moller, and R. Eeles et al. Germ-line mutations in mismatch repair genes associated with prostate cancer Cancer Epidemiol Biomarkers Prev 18 2009 2460 2467
54. F. Kastrinos, B. Mukherjee, and N. Tayob et al. Risk of pancreatic cancer in families with Lynch syndrome JAMA 302 2009 1790-175
55. A. Muller, T.B. Edmonston, and D.A. Corao et al. Exclusion of breast cancer as an integral tumor of hereditary nonpolyposis colorectal cancer Cancer Res 62 2002 1014 1019
56. H.F. Vasen, H. Morreau, and J.W. Nortier Is breast cancer part of the tumor spectrum of hereditary nonpolyposis colorectal cancer? Am J Hum Genet 68 2001 1533 1535
57. M.D. Walsh, D.D. Buchanan, and M.C. Cummings et al. Lynch syndrome-associated breast cancers: clinicopathologic characteristics of a case series from the colon cancer family registry Clin Cancer Res 16 2010 2214 2224
58. N. Buerki, L. Gautier, and M. Kovac et al. Evidence for breast cancer as an integral part of Lynch syndrome Genes Chromosomes Cancer 51 2012 83 91
59. V.M. Raymond, B. Mukherjee, and F. Wang et al. Elevated risk of prostate cancer among men with Lynch syndrome J Clin Oncol 31 2013 1713 1718
60. S.B. Gruber Cancer genetics: lesions from colorectal cancer D.P. Kelsen, J.M. Daly, S.E. Kern, Gastrointestinal oncology: principles and practice 2002 Lippincott William and Wilkins Philadelphia, PA 1635 1639
61. J. Teruya-Feldstein, J. Greene, and L. Cohen et al. Analysis of mismatch repair defects in the familial occurrence of lymphoma and colorectal cancer Leuk Lymphoma 43 2002 1619 1626
62. M. Nilbert, C. Therkildsen, and A. Nissen et al. Sarcomas associated with hereditary nonpolyposis colorectal cancer: broad anatomical and morphologic spectrum Fam Cancer 8 2009 209 213
63. J.D. Trimbath, G.M. Petersen, and S.H. Erdman et al. Cafe-au-lait spots and early onset colorectal neoplasia: a variant of HNPCC? Fam Cancer 1 2001 101 105
64. C.A. Durno, S. Holter, and P.M. Sherman et al. The gastrointestinal phenotype of germline biallelic mismatch repair gene mutations Am J Gastroenterol 105 2010 2449 2456
65. H.F.A. Vasen, J.P. Mecklin, and P. Meera Khan et al. The International Collaborative Group on Hereditary Non-Polyposis Colorectal Cancer Dis Colon Rect 34 1991 424 425
66. H.F.A. Vasen, P. Watson, and J.P. Mecklin et al. New criteria for hereditary non-polyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative Group on HNPCC (ICG-HNPCC) Gastroenterology 116 1999 1453 1456
67. A. Umar, C.R. Boland, and J.P. Terdiman et al. Revised Bethesda Guidelines for hereditary polyposis colorectal cancer (Lynch syndrome) and microsatellite instability J Natl Cancer Inst 96 2004 261 268
68. A.R. Mensenkamp, I.P. Vogelaar, and W.A.G. van Zelst-Stams et al. Somatic mutations in MLH1 and MSH2 are a frequent cause of mismatch-repair deficiency in Lynch syndrome-like tumors Gastroenterology 146 2014 643 646
69. N.M. Lindor, K. Rabe, and G.M. Petersen et al. Lower cancer incidence in Amsterdam-I criteria families without mismatch repair deficiency: familial colorectal cancer type X JAMA 293 2005 1979 1985
70. Y. Mueller-Koch, H. Vogelsang, and R. Koop et al. Hereditary nonpolyposis colorectal cancer: Clinical and molecular evidence for a new entity of hereditary colorectal cancer Gut 54 2005 1733 1740
71. X. Lior, E. Pons, and R.M. Xicola et al. Differential features of colorectal cancers fulfilling Amsterdam criteria without involvement of the mutator pathway Clin Cancer Res 11 2005 7304 7310
72. L. Valle, J. Perea, and P. Carbonell et al. Clinicopathologic and pedigree differences in Amsterdam I-positive hereditary nonpolyposis colorectal cancer families according to tumor microsatellite instability status J Clin Oncol 25 2007 781 786
73. H.T. Lynch, P.M. Lynch, and J. Pester et al. The cancer family syndrome. Rare cutaneous phenotypic linkage of Torre's syndrome Arch Intern Med 141 1981 607 611
74. M.M. Entius, J.J. Keller, and P. Drillenburg et al. Microsatellite instability and expression of hMLH-1 and hMSH-2 in sebaceous gland carcinomas as markers for Muir-Torre syndrome Clin Cancer Res 6 2000 1784 1789
75. S.R. Hamilton, B. Liu, and R.E. Parsons et al. The molecular basis of Turcot's syndrome N Engl J Med 332 1995 839 847
76. C.E. Bronner, S.M. Baker, and P.T. Morrison et al. Mutations in the DNA mismatch repair gene homologue hMLH1 is associated with hereditary nonpolyposis colon cancer Nature 368 1994 258 261
77. N.C. Nicolaides, N. Papadopoulos, and B. Liu et al. Mutations of two PMS homologues in hereditary nonpolyposis colon cancer Nature 371 1994 75 80
78. Y. Akiyama, H. Sato, and T. Yamada et al. Germ-line mutations of hMSH6/GTBP gene in an atypical hereditary nonpolyposis colorectal cancer kindred Cancer Res 57 1997 3920 3923
79. M. Miyaki, M. Konishi, and K. Tanaka et al. Germline mutation of the hMSH6 gene as the cause of hereditary nonpolyposis colorectal cancer Nat Genet 17 1997 271 272
80. M.E. Kovacs, J. Papp, and Z. Szentirmay et al. Deletions removing the last exon of TACSTD1 constitute a distinct class of mutations predisposing to Lynch syndrome Hum Mutat 30 2009 197 203
81. H.T. Lynch, D.L. Riegert-Johnson, and C. Snyder et al. Lynch syndrome-associated extracolonic tumors are rare in two extended families with the same EPCAM deletion Am J Gastroenterol 106 2011 1829 1836
82. M.J. Kempers, R.P. Kuiper, and C.W. Ockeloen et al. Risk of colorectal and endometrial cancers in EPCAM deletion-positive Lynch syndrome: a cohort study Lancet Oncol 12 2011 49 55
83. A.K. Rustgi The genetics of hereditary colon cancer Genes Dev 21 2007 2525 2538
84. C.P. Vaughn, J. Robles, and J.J. Swensen et al. Clinical analysis of PMS2: mutation detection and avoidance of pseudogenes Hum Mutat 31 2010 588 593
85. E. Borràs, M. Pineda, and J. Cadiñanos et al. Refining the role of pms2 in Lynch syndrome: germline mutational analysis improved by comprehensive assessment of variants J Med Genet 50 2013 552 563
86. M.P. Hitchins, and R.L. Ward Constitutional (germline) MLH1 epimutation as an aetiological mechanism for hereditary non-polyposis colorectal cancer J Med Genet 46 2009 793 802
87. L.A. Aaltonen, P. Peltomaki, and F.S. Leach et al. Clues to the pathogenesis of familial colorectal cancer Science 260 1993 812 816
88. C.R. Boland, S.N. Thibodeau, and S.R. Hamilton et al. A National Cancer Institute Workshop of microsatellite instability for cancer detection and familial predisposition: development of international criteria for the determination of microsatellite instability in colorectal cancer Cancer Res 58 1998 5248 5257
89. Y. Wu, M.J. Berends, and R.G. Mensink et al. Association of hereditary nonpolyposis colorectal cancer-related tumors displaying low microsatellite instability with MSH6 germline mutations Am J Hum Genet 65 1999 1291 1298
90. A.C. Haugen, A. Goel, and K. Yamada et al. Genetic instability caused by loss of MutS homologue 3 in human colorectal cancer Cancer Res 68 2008 8465 8472
91. S.Y. Lee, H. Chung, and B. Devaraj et al. Microsatellite alterations at selected tetranucleotide repeats are associated with morphologies of colorectal neoplasias Gastroenterology 139 2010 1519 1525
92. T. Hienonen, P. Laiho, and R. Salovaara et al. Little evidence for involvement of MLH3 in colorectal cancer predisposition Int J Cancer 106 2003 292 296
93. H.X. Liu, X.L. Zhou, and T. Liu et al. The role of hMLH3 in familial colorectal cancer Cancer Res 63 2003 1894 1899
94. N.M. Lindor, L.J. Burgart, and O. Leontovich et al. Immunohistochemistry versus microsatellite instability testing in phenotyping colorectal tumors J Clin Oncol 20 2002 1043 1048
95. J.M. Cunningham, C.Y. Kim, and E.R. Christensen et al. The frequency of hereditary defective mismatch repair in a prospective series of unselected colorectal cancers Am J Hum Genet 68 2001 795 801
96. G. Deng, I. Bell, and S. Crawley et al. BRAF mutation is frequently present in sporadic colorectal cancer with methylated hMLH1, but not in hereditary nonpolyposis colorectal cancer Clin Cancer Res 10 2004 191 195
97. E. Domingo, R.C. Niessen, and C. Oliveria et al. BRAF-V600E is not involved in the colorectal tumorigenesis of HNPCC in patients with functional MLH1 and MSH2 genes Oncogene 24 2005 3995 3998
98. H. Nakagawa, T. Nagasake, and H.M. Culling et al. Efficient molecular screening of Lynch syndrome by specific 3′ promoter methylation of the MLH1 or BRAF mutation in colorectal cancer with high-frequency microsatellite instability Oncol Rep 21 2009 1577 1583
99. J. Balmana, F. Balaguer, and S. CastellviÍ-Bel et al. Gastrointestinal Oncology Group of the Spanish Gastroenterological Association, comparison of predictive models, clinical criteria and molecular tumour screening for the identification of patients with Lynch syndrome in a population-based cohort of colorectal cancer patients J Med Genet 45 2008 557 563
100. R.C. Green, P.S. Parfrey, and M.O. Woods et al. Prediction of Lynch syndrome in consecutive patients with colorectal cancer J Natl Cancer Inst 101 2009 331 340
101. F. Kastrinos, J.I. Allen, and D.H. Stockwell et al. Development and validation of a colon cancer risk assessment tool for patients undergoing colonoscopy Am J Gastroenterol 104 2009 1508 1518
102. J.G. Monzon, C. Cremin, and L. Armstrong et al. Validation of predictive models for germline mutations in DNA mismatch repair genes in colorectal cancer Int J Cancer 126 2010 930 939
103. C.R. Boland, and M. Shike Report from the Jerusalem Workshop on Lynch syndrome - hereditary nonpolyposis colorectal cancer Gastroenterology 138 2010 2197 2201
104. R.A. Barnetson, A. Tenesa, and S.M. Farrington et al. Identification and survival of carriers of mutations in DNA mismatch-repairs genes in colon cancer N Engl J Med 354 2006 2751 2763
105. F. Kastrinos, E.W. Steyerberg, and R. Mercado et al. The PREMM(1,2,6) model predicts risk of MLH1, MSH2, and MSH6 germline mutations based on cancer history Gastroenterology 2011 14073 14081
106. T.A. Dinh, B.I. Rosner, and J.C. Atwood et al. Health benefits and cost-effectiveness of primary genetic screening for Lynch syndrome in the general population Cancer Prev Res 4 2010 9 22
107. G.E. Palomaki, M.R. McClain, and S. Melillo et al. EGAPP supplementary evidence review: DNA testing strategies aimed at reducing morbidity and mortality from Lynch syndrome Genet Med 2009 1142 1165
108. F. Kastrinos, E.W. Steyerberg, and J. Balmaña et al. Comparison of the clinical prediction model PREMM(1,2,6) and molecular testing for the systematic identification of Lynch syndrome in colorectal cancer Gut 62 2013 272 279
109. C. Julié, C. Trésallet, and A. Brouquet et al. Identification in daily practice of patients with Lynch syndrome (hereditary nonpolyposis colorectal cancer): revised Bethesda guidelines-based approach versus molecular screening Am J Gastroenterol 103 2008 2825 2835
110. M.G. van Lier, C.H. Leenen, and A. Wagner et al. Yield of routine molecular analyses in colorectal cancer patients ≤70 years to detect underlying Lynch syndrome J Pathol 226 2012 764 774
111. L. Pérez-Carbonell, C. Ruiz-Ponte, and C. Guarinos et al. Comparison between universal molecular screening for Lynch syndrome and revised Bethesda guidelines in a large population-based cohort of patients with colorectal cancer Gut 61 2012 865 872
112. L. Moreira, F. Balaguer, and N. Lindor et al. Identification of Lynch syndrome among patients with colorectal cancer JAMA 308 2012 1555 1565
113. 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 for Lynch syndrome in relatives Genet Med 11 2009 35 41
114. U. Ladabaum, G. Wang, and J. Terdiman et al. Strategies to identify the Lynch syndrome among patients with colorectal cancer: a cost-effectiveness analysis Ann Intern Med 155 2011 69 79
115. G.E. Palomaki, M.R. McClain, and S. Melillo et al. EGAPP supplementary evidence review: DNA testing strategies aimed at reducing morbidity and mortality for Lynch syndrome Genet Med 11 2009 42 65
116. M. Mvundura, S.D. Grosse, and H. Hampel et al. The cost-effectiveness of genetic testing strategies for Lynch syndrome among newly diagnosed patients with colorectal cancer Genet Med 12 2010 93 104
117. B. Heald, T. Plesec, and X. Liu et al. Implementation of universal microsatellite instability and immunohistochemistry screening for diagnosing lynch syndrome in a large academic medical center J Clin Oncol 31 2013 1336 1340
118. E.M. Stoffel, and A. Chitenden Genetic testing for hereditary colorectal cancer: challenges in identifying, counseling, and managing high-risk patients Gastroenterology 139 2010 1436 1441
119. American Gastroenterological Association Medical Position Statement: hereditary colorectal cancer and genetic testing Gastroenterology 121 2001 195 197
120. F.M. Giardiello, J.D. Brensinger, and G.M. Petersen AGA technical review on hereditary colorectal cancer and genetic testing Gastroenterology 121 2001 198 213
121. Genetic testing for colon cancer: joint statement of the American College of Medical Genetics and American Society of Human Genetics. Joint Test and Technology Transfer Committee Working Group Genet Med 2 2000 362 366
122. National Comprehensive Cancer Network. NCCN Clinical Practice Guidelines in Oncology: Colorectal Cancer Screening. Version 2.2012. http://www.nccn.org/ professionals/physician-gls/PDF/colorectal-screening.pdf. Accessed November 1, 2013.
123. M.E. Robson, C.D. Storm, and J. Weitzel et al. American Society of Clinical Oncology policy statement update: genetic and genomic testing for cancer susceptibility J Clin Oncol 28 2010 893 901
124. Statement of the American Society of Clinical Oncology: genetic testing for cancer susceptibility J Clin Oncol 14 1996 1730 1740
125. N.A. Holtzman Promoting safe and effective genetic testing in the United States: work of the task force on genetic testing Clin Chem 45 1999 732 738
126. National Advisory Council for Human Genome Research Statement on use of DNA testing for presymptomatic identification of cancer risk J Am Med Assoc 271 1994 785
127. American College of Surgeons. Commission on Cancer; standard 2.3: risk assessment and genetic counseling. Available at: http://www.facs.org/cancer/ cocsource/2012/february.html#. Accessed November 1, 2013.
128. J.D. Trimbath, and F.M. Giardiello Genetic testing and counseling for hereditary colorectal cancer Aliment Pharmacol Ther 16 2002 1843 1857
129. H.J. Järvinen, J.P. Mecklin, and P. Sistonen Screening reduces colorectal cancer rate in families with hereditary nonpolyposis colorectal cancer Gastroenterology 108 1995 1405 1411
130. H.J. Järvinen, M. Aarnio, and H. Mustonen et al. Controlled 15-year trial on screening for colorectal cancer in families with hereditary nonpolyposis colorectal cancer Gastroenterology 118 2000 829 834
131. H.J. Järvinen, L. Renkonen-Sinisalo, and K. Aktán- Collán 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 27 2009 4793 4797
132. I. Dove-Edwin, P. Sasieni, and J. Adams et al. Prevention of colorectal cancer by colonoscopic surveillance in individuals with a family history of colorectal cancer: 16 year, prospective, follow-up study BMJ 331 2005 1047
133. H.F. Vasen, M. Abdirahman, and R. Brohet et al. One to 2-year surveillance intervals reduce risk of colorectal cancer in families with Lynch syndrome Gastroenterology 138 2010 2300 2306
134. C. Engel, N. Rahner, and K. Schulmann et al. Efficacy of annual colonoscopic surveillance in individuals with hereditary nonpolyposis colorectal cancer Clin Gastroenterol Hepatol 8 2010 174 182
135. S. Stuckless, J.S. Green, and M. Morgenstern et al. Impact of colonoscopic screening in male and female Lynch syndrome carriers with an MSH2 mutation Clin Genet 82 2012 439 445
136. S. Grover, and S. Sygal Risk assessment, genetic testing and management of Lynch syndrome J NCCN 8 2010 98 105
137. N.M. Lindor, G.M. Petersen, and D.W. Hadley et al. Recommendations for the care of individuals with an inherited predisposition to Lynch syndrome: a systematic review JAMA 2006 1507 1517
138. H.F.A. Vasen, I. Blanco, and K. Aktan-Collan et al. Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts Gut 62 2013 812 823
139. I. Dove-Edwin, D. Boks, and S. Goff et al. The outcome of endometrial carcinoma surveillance by ultrasound in women at risk of hereditary nonpolyposis colorectal carcinoma and familial colorectal carcinoma Cancer 94 2002 1708 1712
140. F.E. Rijcken, M.J. Mourits, and J.H. Kleibeuker et al. Gynecologic screening in hereditary nonpolyposis colorectal cancer Gynecol Oncol 91 2003 74 80
141. L. Renkonen-Sinisalo, R. Butzow, and A. Leminen et al. Surveillance for endometrial cancer in hereditary nonpolyposis colorectal cancer syndrome Int J Cancer 120 2007 821 824
142. F. Lécuru, M.A. Le Frère Belda, and A.S. Bats et al. Performance of office hysteroscopy and endometrial biopsy for detecting endometrial disease in women at risk of human non-polyposis colon cancer: a prospective study Int J Gynecol Cancer 18 2008 1326 1331
143. L.H. Gerritzen, N. Hoogerbrugge, and A.L. Oei et al. Improvement of endometrial biopsy over transvaginal ultrasound alone for endometrial surveillance in women with Lynch syndrome Fam Cancer 8 2009 391 397
144. S. Stuckless, J. Green, and L. Dawson et al. Impact of gynecological screening in Lynch syndrome carriers with an MSH2 mutation Clin Genet 83 2013 359 364
145. D.G. Evans, K.N. Gaarenstroom, and D. Stirling et al. Screening for familial ovarian cancer: poor survival of BRCA1/2 related cancers J Med Genet 46 2009 593 597
146. K.M. Schmeler, H.T. Lynch, and L.M. Chen et al. Prophylactic surgery to reduce the risk of gynecological cancers in Lynch syndrome N Engl J Med 354 2006 261 269
147. K.Y. Yang, A.B. Caughey, and S.E. Little et al. A cost-effectiveness analysis of prophylactic surgery versus gynecologic surveillance for women from hereditary non-polyposis colorectal cancer (HNPCC) families Fam Cancer 10 2011 535 543
148. J.S. Kwon, C.C. Sun, and S.K. Peterson et al. Cost-effectiveness analysis of prevention strategies for gynecologic cancers in Lynch syndrome Cancer 113 2008 326 335
149. L. Renkonen-Sinisalo, P. Sipponen, and M. Aarnio et al. No support for endoscopic surveillance for gastric cancer in hereditary non-polyposis colorectal cancer Scand J Gastroenterol 37 2002 574 577
150. K. Schulmann, F.E. Brasch, and E. Kunstmann et al. HNPCC-associated small bowel cancer: clinical and molecular characteristics Gastroenterology 128 2005 590 599
151. J.C. Saurin, F. Pilleul, and E.B. Soussan et al. Small-bowel capsule endoscopy diagnoses early and advanced neoplasms in asymptomatic patients with Lynch syndrome Endoscopy 42 2010 1057 1062
152. T. Myrhøj, M.B. Andersen, and I. Bernstein Screening for urinary tract cancer with urine cytology in Lynch syndrome and familial colorectal cancer Fam Cancer 7 2008 303 307
153. E. Stoffel, B. Mukherjee, and V.M. Raymond et al. Calculation of risk of colorectal and endometrial cancer among patients with Lynch syndrome Gastroenterology 137 2009 1621 1627
154. G.P. Thériault, C.G. Tremblay, and B.G. Armstrong Bladder cancer screening among primary aluminum production workers in Quebec J Occup Med 32 1990 869 872
155. Office of Disease Prevention and Health Promotion. Screening for bladder cancer. Available at: http://odphp.osophs.dhhs.gov/pubs/guidecps/PDF/CH17.PDF. Accessed November 1, 2013.
156. M.I. Canto, F. Harinck, and R.H. Hruban et al. International Cancer of the Pancreas Screening (CAPS) Consortium summit on the management of patients with increased risk for familial pancreatic cancer International Cancer of Pancreas Screening (CAPS) Consortium Gut 62 2013 339 347
157. P.J. Barrow, S. Ingham, and C. O'Hara et al. The spectrum of urological malignancy in Lynch syndrome Fam Cancer 12 2013 57 63
158. J.F. Haanstra, W.H. de Vos Tot Nederveen Cappel, and J.P. Gopie et al. Quality of life after surgery for colon cancer in patients with Lynch syndrome: partial versus subtotal colectomy Dis Colon Rectum 55 2012 653 659
159. W.H. de Vos tot Nederveen Cappel, E. Buskens, and P. van Duijvendijk et al. Decision analysis in the surgical treatment of colorectal cancer due to a mismatch repair gene defect Gut 52 2003 1752 1755
160. M.F. Kalady, J. Lipman, and E. McGannon et al. Risk of colonic neoplasia after proctectomy for rectal cancer in hereditary nonpolyposis colorectal cancer Ann Surg 255 2012 1121 1125
161. J. Burn, D.T. Bishop, and J.P. Mecklin et al. Effect of aspirin or resistant starch on colorectal neoplasia in the Lynch syndrome N Engl J Med 359 2008 2567 2578
162. J.C. Mathers, M. Movahedi, and F. Macrae et al. Long-term effect of resistant starch on cancer risk in carriers of hereditary colorectal cancer: an analysis from the CAPP2 randomized controlled trial Lancet Oncol 13 2012 1242 1249
163. J. Burn, A.M. Gerdes, and F. Macrae et al. Long-term effect of aspirin on cancer risk in carriers of hereditary colorectal cancer: an analysis from the CAPP2 randomized controlled trial Lancet 378 2011 2081 2087
164. P.M. Rothwell, F.G. Fowkes, and J.F. Belch et al. Effect of daily aspirin on long-term risk of death due to cancer: analysis of individual patient data from randomized trials Lancet 377 2011 31 41