History, genetics, and strategies for cancer prevention in lynch syndrome

Clinical Gastroenterology and Hepatology

Volumn 12, Issue 5, 2014, Pages 715-727

  Kastrinos, Fay ^a   Stoffel, Elena M ^b  

^a NewYork Presbyterian Hospital   (United States)

^b UNIVERSITY OF MICHIGAN HEALTH SYSTEM   (United States)

Author keywords

Colorectal Cancer; Lynch Syndrome

Indexed keywords

ARTICLE; CANCER GENETICS; CANCER PREVENTION; CANCER RISK; CANCER SCREENING; CHEMOPROPHYLAXIS; CLINICAL FEATURE; COLONOSCOPY; DNA DETERMINATION; GENE MUTATION; GENETIC SCREENING; HEREDITARY NONPOLYPOSIS COLORECTAL CANCER; HUMAN; MISMATCH REPAIR; MOLECULAR GENETICS; PREDICTION; RISK ASSESSMENT; ADULT; COLORECTAL NEOPLASMS; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; FEMALE; GASTROENTEROLOGY; GENETICS; HISTORY; MALE; MIDDLE AGED; PROCEDURES; SURGERY; TRENDS; UNITED STATES;

ADULT; COLORECTAL NEOPLASMS; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; FEMALE; GASTROENTEROLOGY; GENETIC TESTING; HISTORY, 20TH CENTURY; HISTORY, 21ST CENTURY; HUMANS; MALE; MIDDLE AGED; SURGICAL PROCEDURES, OPERATIVE; UNITED STATES;

EID: 84898774680     PISSN: 15423565     EISSN: 15427714     Source Type: Journal    
DOI: 10.1016/j.cgh.2013.06.031     Document Type: Article

References (110)

1. Siegel R., Naishadham D., Jemal A. Cancer statistics, 2013. CA Cancer J Clin 2013, 63:11-30.
2. Lichtenstein P., Holm N.V., Verkasalo P.K., et al. Environmental and heritable factors in the causation of cancer. NEngl J Med 2000, 343:78-85.
3. Jasperson K.W., Tuohy T.T., Neklason D.W., et al. Hereditary and familial colon cancer. Gastroenterology 2010, 138:2044-2058.
4. Lynch H.T., de la Chapelle A. Hereditary colorectal cancer. NEngl J Med 2003, 348:919-932.
5. Hampel H., Frankel W.L., Martin E., et al. Feasibility of screening for Lynch syndrome among patients with colorectal cancer. JClin Oncol 2008, 26:5783-5788.
6. Hampel H., Frankel W.L., Martin E., et al. Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer). NEngl J Med 2005, 352:1851-1860.
7. Warthin A.S. Heredity with reference to carcinoma. Arch Intern Med 1913, 12:546-555.
8. Warthin A.S. The further study of a cancer family. JCancer Res 1925, 9:279-286.
9. Hauser I.J., Weller C.V. Afurther report on the cancer family of Warthin. Am J Cancer 1936, 27:434-449.
10. Lynch H.T., Krush A.J. Cancer family 'G' revisited: 1895-1970. Cancer 1971, 27:1505-1511.
11. Douglas J.A., Gruber S.B., Meister K.A., et al. History and molecular genetics of Lynch syndrome in Family G: a century later. JAMA 2005, 294:2195-2202.
12. Lynch H.T., Shaw M.W., Magnuson C.W., et al. Hereditary factors in cancer: study of two large Midwestern kindreds. Arch Intern Med 1966, 117:206-212.
13. Boland C.R., Troncale F.J. Familial colonic cancer without antecedent polyposis. Ann Intern Med 1984, 100:700-701.
14. Lynch H.T., Lynch J.F. Hereditary nonpolyposis colorectal cancer (Lynch syndromes I and II): a common genotype linked to oncogenes?. Med Hypoth 1985, 18:19-28.
15. Vasen H.F., Mecklin J.P., Khan P.M., et al. The international collaborative group on hereditary non-polyposis colorectal cancer (ICG-HNPCC). Dis Colon Rectum 1991, 34:424-425.
16. Boland C.R. Evolution of the nomenclature for the hereditary colorectal cancer syndromes. Familial Cancer 2005, 4:211-218.
17. Peltomaki P., Aaltonen L.A., Sistonen P., et al. Genetic mapping of a locus predisposing to human colorectal cancer. Science 1993, 260:810-812.
18. Lindblom A., Tannergard P., Werelius B., et al. Genetic mapping of a second locus predisposing to hereditary non-polyposis colon cancer. Nat Genet 1993, 5:279-282.
19. Ionov Y., Peinado M.A., Malkhosyan S., et al. Ubiquitous somatic mutations in simple repeated sequences reveal a new mechanism for colonic carcinogenesis. Nature 1993, 363:558-561.
20. Thibodeau S.N., Bren G., Schaid D., et al. Microsatellite instability in cancer of the proximal colon. Science 1993, 260:816-819.
21. Fishel R., Lescoe M.K., Rao M.R., et al. The human mutator gene homolog MSH2 and its association with hereditary non polyposis colon cancer. Cell 1993, 75:1027-1038.
22. Leach F.S., Nicolaides N.C., Papadopoulos N., et al. Mutations of a MutS homolog in hereditary nonpolyposis colorectal cancer. Cell 1993, 75:1215-1225.
23. Bronner C.E., Baker S.M., Morrison P.T., et al. Mutation in the DNA mismatch repair gene homologue hMLH1 is associated with hereditary non-polyposis colon cancer. Nature 1994, 368:258-261.
24. Papadopoulos N., Nicolaides N.C., Wei Y.F., et al. Mutation of a MutL homolog in hereditary colon cancer. Science 1994, 263:1625-1629.
25. Miyaki M., Konishi M., Tanaka K., et al. Germline mutation of MSH6 as the cause of hereditary nonpolyposis colorectal cancer. Nat Genet 1997, 17:271-272.
26. Nicolaides N.C., Papadopoulos N., Liu B., et al. Mutations of two PMS homologues in hereditary nonpolyposis colon cancer. Nature 1994, 371:75-80.
27. Grady W.M., Carethers J.M. Genomic and epigenetic instability in colorectal cancer pathogenesis. Gastroenterology 2008, 135:1079-1099.
28. Grady W.M. Genetic testing for high-risk colon cancer patients. Gastroenterology 2003, 124:1574-1594.
29. Kovacs M.E., Papp J., Szentirmay Z., et al. Deletions removing the last exon of TACSTD1 constitute a distinct class of mutations predisposing to Lynch syndrome. Hum Mutat 2009, 30:197-203.
30. Ligtenberg M.J., Kuiper R.D., Chan T.L., et al. Heritable somatic methylation and inactivation of MSH2 in families with Lynch syndrome due to deletion of the 3' exons of TACSTD1. Nat Genet 2009, 41:112-117.
31. Niessen R.C., Hofstra R.M., Westers H., et al. Germline hypermethylation of MLH1 and EPCAM deletions are a frequent cause of Lynch syndrome. Genes Chromosomes Cancer 2009, 48:737-744.
32. Kempers M.J., Kuiper R.P., Ockeleon C.W., et al. Risk of colorectal and endometrial cancers in EPCAM deletion-positive Lynch syndrome: a cohort study. Lancet Oncol 2011, 12:49-55.
33. Hampel H. Point: justification for lynch syndrome screening among all patients with newly diagnosed colorectal cancer. JNCCN 2010, 8:597-601.
34. Aarnio M., Mecklin J.P., Aaltonen L.A., et al. Life-time risk of different cancers in hereditary non-polyposis colorectal cancer (HNPCC) syndrome. Int J Cancer 1995, 64:430-433.
35. Dunlop M.G., Farrington S.M., Carothers A.D., et al. Cancer risk associated with germline DNA mismatch repair gene mutations. Hum Mol Genet 1997, 6:105-110.
36. Watson P., Lynch H.T. Cancer risk in mismatch repair gene mutation carriers. Fam Cancer 2001, 1:57-60.
37. Vasen H.F., Wijnen J.T., Menko F.H., et al. Cancer risk in families with hereditary nonpolyposis colorectal cancer diagnosed by mutation analysis. Gastroenterology 1996, 110:1020-1027.
38. Quehenberger F., Vasen H.F., van Houwelingen H.C. Risk of colorectal and endometrial cancer for carriers of mutations of the hMLH1 and hMSH2 gene: correction for ascertainment. JMed Genet 2005, 42:491-496.
39. Jenkins M.A., Baglietto L., Dowty J.G., et al. Cancer risks for mismatch repair gene mutation carriers: a population-based early onset case-family study. Clin Gastroenterol Hepatol 2006, 4:489-498.
40. Stoffel E., Mukherjee B., Raymond V.M., et al. Calculation of risk of colorectal and endometrial cancer among patients with Lynch syndrome. Gastroenterology 2009, 137:1621-1627.
41. Barrow E., Robinson L., Alduaij W., et al. Cumulative lifetime incidence of extracolonic cancers in Lynch syndrome: a report of 121 families with proven mutations. Clin Genet 2009, 75:141-149.
42. Engel C., Loeffler M., Steinke V., et al. Risks of less common cancers in proven mutation carriers with Lynch syndrome. JClin Oncol 2012, 30:4409-4415.
43. Win A.K., Young J.P., Lindor N.M., et al. Colorectal and other cancer risks for carriers and noncarriers from families with a DNA mismatch repair gene mutation: a prospective cohort study. JClin Oncol 2012, 30:958-964.
44. Win A.K., Lindor N.M., Young J.P., et al. Risk of primary extracolonic cancers following colorectal cancer in Lynch syndrome. JNatl Cancer Inst 2012, 104:1363-1372.
45. Kastrinos F., Mukherjee B., Tayob N., et al. Risk of pancreatic cancer in Lynch syndrome. JAMA 2009, 302:1790-1795.
46. Raymond V., Mukherjee B., Wang F., et al. Elevated risk of prostate cancer among men with Lynch syndrome. JClin Oncol 2013, 14:1713-1718.
47. Plaschke J., Engel C., Kruger S., et al. Lower incidence of colorectal cancer and later age of disease onset in 27 families with pathogenic MSH6 germline mutations compared to families with MLH1 or MSH2 mutations. JClin Oncol 2004, 22:4486-4494.
48. Goecke T., Schulmann K., Engel C., et al. Genotype-phenotype comparison of German MLH1 and MSH2 mutation carriers clinically affected with Lynch syndrome: a report by the German HNPCC Consortium. JClin Oncol 2006, 24:4285-4292.
49. Vasen H.F., Stormorken A., Menko F.H., et al. MSH2 mutation carriers are at higher risk of cancer than MLH1 mutation carriers: a study of hereditary nonpolyposis colorectal cancer families. JClin Oncol 2001, 19:4074-4080.
50. Hampel H., Stephens J.A., Pukkala E., et al. Cancer risk in hereditary nonpolyposis colorectal cancer syndrome: later age of onset. Gastroenterology 2005, 129:415-421.
51. Kastrinos F., Stoffel E.M., Balmana J., et al. Phenotype comparison of MLH1 and MSH2 mutation carriers in a cohort of 1913 individuals undergoing clinical genetic testing in the United States. Cancer Epidemiol Biomarkers Prev 2008, 17:2044-2051.
52. Wagner A., Hendriks Y.M.C., Meijers-Heijboer E.J., et al. Atypical HNPCC owing to MSH6 germline mutations: analysis of a large Dutch pedigree. JMed Genet 2001, 38:318-322.
53. Peterlongo P., Nafa K., Lerman G.S., et al. MSH6 germline mutations are rare in colorectal cancer families. Int J Cancer 2003, 107:571-579.
54. Kolodner R.D., Tytell J.D., Schmeits J.L., et al. Germline MSH6 mutations in colorectal cancer families. Cancer Res 1999, 59:5068-5074.
55. Baglietto L., Lindor N.M., Dowty J.G., et al. Dutch Lynch Syndrome Study Group: risks of Lynch syndrome cancers for MSH6 mutationcarriers. JNatl Cancer Inst 2010, 102:193-201.
56. Wijnen J., De Leeuw W., Vasen H., et al. Familial endometrial cancer in female carriers of MSH6 germline mutations. Nat Genet 1999, 23:142-144.
57. 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.
58. Senter L., Clendenning M., Sotamaa K., et al. The clinical phenotype of Lynch syndrome due to germline PMS2 mutations. Gastroenterology 2008, 135:419-428.
59. Lynch H.T., Riegert-Johnson D.L., Snyder C., et al. Lynch syndrome-associated extracolonic tumors are rare in two extended families with the same EPCAM deletion. Am J Gastroenterol 2011, 106:1829-1836.
60. Talseth-Palmer B.A., Wijnen J.T., Grice D.M., et al. Genetic modifiers of cancer risk in Lynch syndrome: a review. Fam Cancer 2013, 12:207-216.
61. Reeves S.G., Rich D., Meldrum C.J., et al. IGF1 is a modifier of disease risk in hereditary non-polyposis colorectal cancer. Int J Cancer 2008, 123:1339-1343.
62. Krüger S., Silber A.S., Engel C., et al. Arg462Gln sequence variation in the prostate-cancer-susceptibility gene RNASEL and age of onset of hereditary non-polyposis colorectal cancer: a case-control study. Lancet Oncol 2005, 6:566-572.
63. Shi Z., Johnstone D., Talseth-Palmer B.A., et al. Haemochromatosis HFE gene polymorphisms as potential modifiers of hereditary nonpolyposis colorectal cancer risk and onset age. Int J Cancer 2009, 125:78-83.
64. Chen J., Pande M., Huang Y.J., et al. Cell cycle-related genes as modifiers of age of onset of colorectal cancer in Lynch syndrome: a large-scale study in non-Hispanic white patients. Carcinogenesis 2013, 34:299-306.
65. Pande M., Amos C.I., Osterwisch D.R., et al. Genetic variation in genes for the xenobiotic-metabolizing enzymes CYP1A1, EPHX1, GSTM1, GSTT1, and GSTP1 and susceptibility to colorectal cancer in Lynch syndrome. Cancer Epidemiol Biomarkers Prev 2008, 17:2393-2401.
66. Bellido F., Guinó E., Jagmohan-Changur S., et al. Genetic variant in telomerase gene modifies cancer risk in Lynch syndrome. Eur J Hum Genet 2013, 21:511-516.
67. Jarvinen H.J., Aarnio M., Mustonen H., et al. Controlled 15-year trial on screening for colorectal cancer in families with hereditary nonpolyposis colorectal cancer. Gastroenterology 2000, 118:829-834.
68. de Jong A.E., Hendiks Y.M., Kleibeuker J.H., et al. Decrease in mortality in Lynch syndrome families because of surveillance. Gastroenterology 2006, 130:665-671.
69. de Vos Tot Nederveen Cappel W.H., Nagengast F.M., Griffioen G.E., et al. Surveillance for hereditary nonpolyposis colorectal cancer: a long-term study on 114 families. Dis Colon Rectum 2002, 45:1588-1594.
70. Mecklin J.P., Aarnio M., Laara E., et al. Development of colorectal tumors in colonoscopic surveillance in Lynch syndrome. Gastroenterology 2007, 133:1093-1098.
71. Vasen H.F., Abdirahman M., Brohet R., et al. One to 2- year surveillance intervals reduce risk of colorectal cancer in families with Lynch syndrome. Gastroenterology 2010, 138:2300-2306.
72. Lindor N.M., Petersen G.M., Hadley D.W., et al. Recommendations for the care of individuals with an inherited predisposition to Lynch syndrome: a systematic review. JAMA 2006, 296:1507-1517.
73. Vasen H.F., 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.
74. National Comprehensive Cancer Network. Guidelines for detection, prevention, and risk reduction. Available at:. Version 1.2013. Accessibility verified June 1,2013. http://www.nccn.org/professionals/physician_gls/pdf/colorectal_screening.pdf.
75. Boks De, Trujillo A.P., Voorg A.C., et al. Survival analysis of endometrial carcinoma associated with hereditary nonpolyposis colorectal cancer. Int J Cancer 2002, 102:198-200.
76. Rijcken F.E., Mourits M.J., Kleibeuker J.H., et al. Gynecologic screening in hereditary nonpolyposis colorectal cancer. Gynecol Oncol 2003, 91:74-80.
77. Schmeler K.M., Lynch H.T., Chen L.M., et al. Prophylactic surgery to reduce the risk of gynecologic cancers in the Lynch syndrome. NEng J Med 2006, 354:261-296.
78. Parry S., Win A.K., Parry B., et al. Metachronous colorectal cancer risk for mismatch repair gene mutation carriers: the advantage of more extensive colon surgery. Gut 2011, 60:950-957.
79. Burn J., Bishop D.R., Mecklin J.P., et al. Effect of aspirin or resistant starch on colorectal neoplasia in the Lynch syndrome. NEngl J Med 2008, 259:2567-2578.
80. Burn J., Gerdes A.M., 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. Lindor N.M., Rabe K., Petersen G.M., et al. Lower cancer incidence in Amsterdam-I criteria families without mismatch repair deficiency: familial colorectal cancer type X. JAMA 2005, 293:1979-1985.
82. Rodríguez-Soler M., Pérez-Carbonell L., Guarinos C., et al. Risk of cancer in cases suspected Lynch syndrome without germline mutation. Gastroenterology 2013, 144:926-932.
83. Rodriguez-Bigas M.A., Boland C.R., Hamilton S.R., et al. National Cancer Institute workshop on hereditary nonpolyposis colorectal cancer syndrome: meeting highlights and Bethesda guidelines. JNatl Cancer Inst 1997, 89:1758-1762.
84. Umar A., Boland C.R., Terdiman J.P., et al. Revised Bethesda guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability. JNatl Cancer Inst 2004, 96:261-268.
85. Grover S., Stoffel E.M., Bussone L., et al. Physician assessment of family cancer history and referral for genetic evaluation in colorectal cancer patients. Clin Gastroenterol Hepatol 2004, 2:813-819.
86. Trano G., Wasmuth H.H., Sjursen W., et al. Awareness of heredity in colorectal cancer patients is insufficient among clinicians: a Norwegian population-based study. Colorectal Dis 2009, 11:456-461.
87. Palomaki G.E., McClain M.R., 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.
88. Boland C.R., Thibodeau S.N., Hamilton S.R., et al. ANational 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.
89. de la Chapelle A., Palomaki G., Hampel H. Identifying Lynch syndrome. Int J Cancer 2009, 125:1492-1493.
90. Ladabaum U., Wang G., Terdiman J.P., et al. Strategies to identify the Lynch syndrome among patients with colorectal cancer: a cost-effectiveness analysis. Ann Intern Med 2011, 155:69-79.
91. Kane M.F., Loda M., Gaida G.M., et al. Methylation of the hMLH1 promoter correlates with lack of expression of hMLH1 in sporadic colon tumors and mismatch repair-defective human tumor cell lines. Cancer Res 1997, 57:808-811.
92. Wang L., Cunningham J., Winters J., et al. BRAF mutations in colon cancer are not likely attributable to defective DNA mismatch repair. Cancer Res 2003, 97:1421-1427.
93. Berends M.J., Wu Y., Sijmons R.H., et al. Molecular and clinical characteristics of MSH6 variants: an analysis of 25 index carriers of a germline variant. Am J Hum Genet 2002, 70:26-37.
94. 1,2,6 and molecular testing for the systematic identification of Lynch syndrome in colorectal cancer. Gut 2013, 62:272-279.
95. Plaschke J., Kruger S., Dietmaier W., et al. For the German HNPCC consortium: eight novel MSH6 germline mutations in patients with familial and nonfamilial colorectal cancer selected by loss of protein expression in tumor tissue. Hum Mutat 2004, 23:285.
96. Overbeek L.I., Ligtenber M.J., Willems R.W., et al. Interpretation of immunohistochemistry for mismatch repair proteins is only reliable in a specialized setting. Am J Surg Pathol 2008, 32:1246-1251.
97. Klarskov L., Ladelund S., Holck S., et al. Interobserver variability in the evaluation of mismatch repair protein immunostaining. Human Pathol 2010, 41:1387-1396.
98. Barnetson R.A., Tenesa A., Farrington S.M., et al. Identification and survival of carriers of mutations in DNA mismatch repair genes in colon cancers. NEngl J Med 2006, 354:2751-2763.
99. Chen S., Wang W., Lee S., et al. Prediction of germline mutations and cancer risk in the Lynch syndrome. JAMA 2006, 296:1479-1487.
100. 1,2,6 model predicts risk of germline MLH1, MSH2, and MSH6 germline mutations based on cancer history. Gastroenterology 2011, 140:73-81.
101. Green R.C., Parfrey P.S., Woods M.O., et al. Prediction of Lynch syndrome in consecutive patients with colorectal cancer. JNatl Cancer Inst 2009, 101:331-340.
102. Tressalet C., Brouquet A., Julie C., et al. Evaluation of predictive models in daily practice for the identification of patients with Lynch syndrome. Int J Cancer 2012, 130:1367-1377.
103. Khan O., Blanco A., Conrad P., et al. Performance of Lynch syndrome predictive models in a multi-center US referral population. Am J Gastroenterol 2011, 106:1822-1827.
104. Dinh T.A., Rosner B.I., Atwood J.C., et al. Health benefits andcost-effectiveness of primary genetic screening for Lynchsyndrome in the general population. Cancer Prev Res 2011, 4:9-22.
105. Moreira L., Balaguer F., Lindor N.M., et al. Identification of Lynch syndrome among patients with colorectal cancer. JAMA 2012, 308:1555-1565.
106. Kastrinos F., Syngal S. Screening patients for colorectal cancer for Lynch syndrome: what are we waiting for?. JClin Oncol 2012, 30:1024-1027.
107. Kastrinos F., Syngal S. Inherited colorectal cancer syndromes. Cancer J 2011, 17:405-415.
108. Beamer L.C., Grant M.L., Espenschied C.R., et al. Reflex immunohistochemistry and microsatellite instability testing of colorectal tumors for Lynch syndrome among US cancer programs and follow-up of abnormal results. JClin Oncol 2012, 30:11058-11063.
109. Ramsoekh D., van Leerdam M.E., Tops C.M., et al. The use of genetic testing in hereditary colorectal cancer syndromes: genetic testing in HNPCC, (A)FAP and MAP. Clin Genet 2007, 72:562-567.
110. Ponz de Leon M., Benatti P., DiGregorio C., et al. Genetic testing among high-risk individuals in families with hereditary nonpolyposis colorectal cancer. Br J Cancer 2004, 90:882-887.