Hereditary colon cancer syndromes

Seminars in Oncology

Volumn 38, Issue 4, 2011, Pages 490-499

  Gala, Manish ^a   Chung, Daniel C ^a  

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CYCLOOXYGENASE 2 INHIBITOR; MAMMALIAN TARGET OF RAPAMYCIN INHIBITOR;

CANCER SCREENING; CLINICAL EXAMINATION; COLON CANCER; COLON POLYPOSIS; COLON RESECTION; COLONOSCOPY; FAMILIAL COLON POLYPOSIS; FAMILY HISTORY; GENE MUTATION; GENETIC LINKAGE; GENETIC SCREENING; GENOTYPE PHENOTYPE CORRELATION; HEREDITARY COLORECTAL CANCER; HEREDITARY NONPOLYPOSIS COLORECTAL CANCER; HIGH RISK PATIENT; HUMAN; HYPERPLASTIC POLYPOSIS SYNDROME; JUVENILE POLYP; MUTYH ASSOCIATED POLYPOSIS; ONSET AGE; PEUTZ JEGHERS SYNDROME; PRIORITY JOURNAL; REVIEW; SYNDROME;

EID: 79961008230     PISSN: 00937754     EISSN: None     Source Type: Journal    
DOI: 10.1053/j.seminoncol.2011.05.003     Document Type: Article

References (117)

1. Cancer facts and figures 2010. Atlanta, GA: American Cancer Society 2010.
2. Altekruse SF, Kosary CL, Krapcho M, et al. SEER Cancer Statistics Review, 1975-2007. Bethesda,: National Cancer Institute; 2009.
3. Johns LE, Houlston RS. A systematic review and metaanalysis of familial colorectal cancer risk. Am J Gastroenterol. 2001;96:2992-3003. (Pubitemid 32959544)
4. Samowitz WS, Curtin K, Lin HH, et al. The colon cancer burden of genetically defined hereditary nonpolyposis colon cancer. Gastroenterology. 2001;121:830-8. (Pubitemid 32959394)
5. Bussey HJ, Veale AM, Morson BC. Genetics of gastrointestinal polyposis. Gastroenterology. 1978;74:1325-30. (Pubitemid 8352867)
6. 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. (Pubitemid 39091892)
7. Knudsen AL, Bisgaard ML, Bulow S. Attenuated familial adenomatous polyposis (AFAP). A review of the literature. Fam Cancer. 2003;2:43-55.
8. Lynch HT, Smyrk T, McGinn T, et al. Attenuated familial adenomatous polyposis (AFAP). A phenotypically and genotypically distinctive variant of FAP. Cancer. 1995; 76:2427-33.
9. Bjork J, Akerbrant H, Iselius L, et al. Periampullary adenomas and adenocarcinomas in familial adenomatous polyposis: cumulative risks and APC gene mutations. Gastroenterology. 2001;121:1127-35. (Pubitemid 33022093)
10. Groves CJ, Saunders BP, Spigelman AD, Phillips RK. Duodenal cancer in patients with familial adenomatous polyposis (FAP): results of a 10 year prospective study. Gut. 2002;50:636-41.
11. Bianchi LK, Burke CA, Bennett AE, Lopez R, Hasson H, Church JM. Fundic gland polyp dysplasia is common in familial adenomatous polyposis. Clin Gastroenterol Hepatol. 2008;6:180-5. (Pubitemid 351172948)
12. Herraiz M, Barbesino G, Faquin W, et al. Prevalence of thyroid cancer in familial adenomatous polyposis syndrome and the role of screening ultrasound examinations. Clin Gastroenterol Hepatol. 2007;5:367-73. (Pubitemid 46401518)
13. Hughes LJ, Michels VV. Risk of hepatoblastoma in familial adenomatous polyposis. Am J Med Genet. 1992; 43:1023-5.
14. Hamilton SR, Liu B, Parsons RE, et al. The molecular basis of Turcot's syndrome. N Engl J Med. 1995;332: 839-47.
15. Gardner EJ, Plenk HP. Hereditary pattern for multiple osteomas in a family group. Am J Hum Genet. 1952;4: 31-6.
16. Gardner EJ. Follow-up study of a family group exhibiting dominant inheritance for a syndrome including intestinal polyps, osteomas, fibromas and epidermal cysts. Am J Hum Genet. 1962;14:376-90.
17. Speake D, Evans DG, Lalloo F, Scott NA, Hill J. Desmoid tumours in patients with familial adenomatous polyposis and desmoid region adenomatous polyposis coli mutations. Br J Surg. 2007;94:1009-13. (Pubitemid 47236547)
18. Smith TG, Clark SK, Katz DE, Reznek RH, Phillips RK. Adrenal masses are associated with familial adenomatous polyposis. Dis Colon Rectum. 2000;43:1739-42. (Pubitemid 32001874)
19. Nieuwenhuis MH, De Vos Tot Nederveen Cappel W, Botma A, et al. Desmoid tumors in a dutch cohort of patients with familial adenomatous polyposis. Clin Gastroenterol Hepatol. 2008;6:215-9. (Pubitemid 351172943)
20. Gurbuz AK, Giardiello FM, Petersen GM, et al. Desmoid tumours in familial adenomatous polyposis. Gut. 1994; 35:377-81. (Pubitemid 24092910)
21. Kinzler KW, Nilbert MC, Su LK, et al. Identification of FAP locus genes from chromosome 5q21. Science. 1991;253:661-5. (Pubitemid 21917199)
22. Nishisho I, Nakamura Y, Miyoshi Y, et al. Mutations of chromosome 5q21 genes in FAP and colorectal cancer patients. Science. 1991;253:665-9. (Pubitemid 21917200)
23. Groden J, Thliveris A, Samowitz W, et al. Identification and characterization of the familial adenomatous polyposis coli gene. Cell. 1991;66:589-600.
24. Chung DC. The genetic basis of colorectal cancer: insights into critical pathways of tumorigenesis. Gastroenterology. 2000;119:854-65.
25. Miyaki M, Konishi M, Kikuchi-Yanoshita R, et al. Characteristics of somatic mutation of the adenomatous polyposis coli gene in colorectal tumors. Cancer Res. 1994;54:3011-20. (Pubitemid 24187789)
26. Miyoshi Y, Nagase H, Ando H, et al. Somatic mutations of the APC gene in colorectal tumors: mutation cluster region in the APC gene. Hum Mol Genet. 1992;1: 229-33.
27. Dobbie Z, Spycher M, Mary JL, et al. Correlation between the development of extracolonic manifestations in FAP patients and mutations beyond codon 1403 in the APC gene. J Med Genet. 1996;33:274-80. (Pubitemid 26102452)
28. Nagase H, Miyoshi Y, Horii A, et al. Correlation between the location of germ-line mutations in the APC gene and the number of colorectal polyps in familial adenomatous polyposis patients. Cancer Res. 1992;52: 4055-7.
29. Spirio L, Olschwang S, Groden J, et al. Alleles of the APC gene: an attenuated form of familial polyposis. Cell. 1993;75:951-7. (Pubitemid 24014551)
30. Hernegger GS, Moore HG, Guillem JG. Attenuated familial adenomatous polyposis: an evolving and poorly understood entity. Dis Colon Rectum. 2002;45:127-34.
31. Burt R, Neklason DW. Genetic testing for inherited colon cancer. Gastroenterology. 2005;128:1696-716. (Pubitemid 40692561)
32. Grady WM. Genetic testing for high-risk colon cancer patients. Gastroenterology. 2003;124:1574-94. (Pubitemid 36617678)
33. Zimmer V, Lammert F, Raedle J. Gardner variant of familial adenomatous polyposis: from extensive skull osteomatosis to metastatic rectal remnant cancer. Clin Gastroenterol Hepatol. 2010;8:A34.
34. Giardiello FM, Hamilton SR, Krush AJ, et al. Treatment of colonic and rectal adenomas with sulindac in familial adenomatous polyposis. N Engl J Med. 1993;328: 1313-6. (Pubitemid 23131373)
35. Steinbach G, Lynch PM, Phillips RK, et al. The effect of celecoxib, a cyclooxygenase-2 inhibitor, in familial adenomatous polyposis. N Engl J Med. 2000;342: 1946-52. (Pubitemid 30419089)
36. Hirota WK, Zuckerman MJ, Adler DG, et al. ASGE guideline: the role of endoscopy in the surveillance of premalignant conditions of the upper GI tract. Gastrointest Endosc. 2006;63:570-80.
37. Brosens LA, Keller JJ, Offerhaus GJ, Goggins M, Giardiello FM. Prevention and management of duodenal polyps in familial adenomatous polyposis. Gut. 2005; 54:1034-43. (Pubitemid 40873922)
38. Vasen HF, Moslein G, Alonso A, et al. Guidelines for the clinical management of familial adenomatous polyposis (FAP). Gut. 2008;57:704-13. (Pubitemid 351579987)
39. Al-Tassan N, Chmiel NH, Maynard J, et al. Inherited variants of MYH associated with somatic G:C→T:A mutations in colorectal tumors. Nat Genet. 2002;30: 227-32.
40. 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. (Pubitemid 36245755)
41. Sampson JR, Dolwani S, Jones S, et al. Autosomal recessive colorectal adenomatous polyposis due to inherited mutations of MYH. Lancet. 2003;362:39-
42. Jo WS, Bandipalliam P, Shannon KM, et al. Correlation of polyp number and family history of colon cancer with germline MYH mutations. Clin Gastroenterol Hepatol. 2005;3:1022-8. (Pubitemid 41415751)
43. Croitoru ME, Cleary SP, Di Nicola N, et al. Association between biallelic and monoallelic germline MYH gene mutations and colorectal cancer risk. J Natl Cancer Inst. 2004;96:1631-4. (Pubitemid 39534887)
44. Enholm S, Hienonen T, Suomalainen A, et al. Proportion and phenotype of MYH-associated colorectal neoplasia in a population-based series of Finnish colorectal cancer patients. Am J Pathol. 2003;163:827-32. (Pubitemid 37040119)
45. Halford SE, Rowan AJ, Lipton L, et al. Germline mutations but not somatic changes at the MYH locus contribute to the pathogenesis of unselected colorectal cancers. Am J Pathol. 2003;162:1545-8. (Pubitemid 36512837)
46. Nielsen M, Hes FJ, Nagengast FM, et al. Germline mutations in APC and MUTYH are responsible for the majority of families with attenuated familial adenomatous polyposis. Clin Genet. 2007;71:427-33. (Pubitemid 46730652)
47. Lubbe SJ, Di Bernardo MC, Chandler IP, Houlston RS. Clinical implications of the colorectal cancer risk associated with MUTYH mutation. J Clin Oncol. 2009;27: 3975-80.
48. Jenkins MA, Croitoru ME, Monga N, et al. Risk of colorectal cancer in monoallelic and biallelic carriers of MYH mutations: a population-based case-family study. Cancer Epidemiol Biomarkers Prev. 2006;15:312-4. (Pubitemid 43342180)
49. Nielsen M, Joerink-van de Beld MC, Jones N, et al. Analysis of MUTYH genotypes and colorectal phenotypes in patients With MUTYH-associated polyposis. Gastroenterology. 2009;136:471-6.
50. Nielsen M, Franken PF, Reinards TH, et al. Multiplicity in polyp count and extracolonic manifestations in 40 Dutch patients with MYH associated polyposis coli (MAP). J Med Genet. 2005;42:e54.
51. Vogt S, Jones N, Christian D, et al. Expanded extracolonic tumor spectrum in MUTYH-associated polyposis. Gastroenterology. 2009;137:1976-85.
52. Jones N, Vogt S, Nielsen M, et al. Increased colorectal cancer incidence in obligate carriers of heterozygous mutations in MUTYH. Gastroenterology. 2009;137: 489-94.
53. Slupska MM, Baikalov C, Luther WM, Chiang JH, Wei YF, Miller JH. Cloning and sequencing a human homolog (hMYH) of the Escherichia coli mutY gene whose function is required for the repair of oxidative DNA damage. J Bacteriol. 1996;178:3885-92. (Pubitemid 26227206)
54. Nghiem Y, Cabrera M, Cupples CG, Miller JH. The mutY gene: a mutator locus in Escherichia coli that generates G.C - T.A transversions. Proc Natl Acad Sci U S A. 1988; 85:2709-13.
55. Nielsen M, Hes FJ, Vasen HF, van den Hout WB. Costutility analysis of genetic screening in families of patients with germline MUTYH mutations. BMC Med Genet. 2007;8:42.
56. Hyman NH, Anderson P, Blasyk H. Hyperplastic polyposis and the risk of colorectal cancer. Dis Colon Rectum. 2004;47:2101-4. (Pubitemid 40179073)
57. Boparai KS, Mathus-Vliegen EM, Koornstra JJ, et al. Increased colorectal cancer risk during follow-up in patients with hyperplastic polyposis syndrome: a multicentre cohort study. Gut. 2010;59:1094-100.
58. Young J, Jenkins M, Parry S, et al. Serrated pathway colorectal cancer in the population: genetic consideration. Gut. 2007;56:1453-9. (Pubitemid 47517843)
59. Jass J, Burt, R. Hyperplastic polyposis. In: Hamilton SR, Aaltonen LA, editors. World Health Organization classification of tumours pathology and genetics of tumours of the digestive system. Lyon, France: IARC Press; 2000: 135-6.
60. McGarrity TJ, Amos C. Peutz-Jeghers syndrome: clinicopathology and molecular alterations. Cell Mol Life Sci. 2006;63:2135-44. (Pubitemid 44465687)
61. Giardiello FM, Brensinger JD, Tersmette AC, et al. Very high risk of cancer in familial Peutz-Jeghers syndrome. Gastroenterology. 2000;119:1447-53. (Pubitemid 32198669)
62. Rowan A, Bataille V, MacKie R, et al. Somatic mutations in the Peutz-Jeghers (LKB1/STKII) gene in sporadic malignant melanomas. J Invest Dermatol. 1999;112: 509-11. (Pubitemid 29171943)
63. Su GH, Hruban RH, Bansal RK, et al. Germline and somatic mutations of the STK11/LKB1 Peutz-Jeghers gene in pancreatic and biliary cancers. Am J Pathol. 1999;154:1835-40. (Pubitemid 29262866)
64. Wang ZJ, Churchman M, Campbell IG, et al. Allele loss and mutation screen at the Peutz-Jeghers (LKB1) locus (19p13.3) in sporadic ovarian tumours. Br J Cancer. 1999;80:70-2. (Pubitemid 29210090)
65. Wilson DM, Pitts WC, Hintz RL, Rosenfeld RG. Testicular tumors with Peutz-Jeghers syndrome. Cancer. 1986;57:2238-40. (Pubitemid 16121764)
66. Cantu JM, Rivera H, Ocampo-Campos R, et al. Peutz- Jeghers syndrome with feminizing sertoli cell tumor. Cancer. 1980;46:223-8. (Pubitemid 10080463)
67. Trau H, Schewach-Millet M, Fisher BK, Tsur H. Peutz- Jeghers syndrome and bilateral breast carcinoma. Cancer. 1982;50:788-92. (Pubitemid 12052732)
68. Srivatsa PJ, Keeney GL, Podratz KC. Disseminated cervical adenoma malignum and bilateral ovarian sex cord tumors with annular tubules associated with Peutz- Jeghers syndrome. Gynecol Oncol. 1994;53:256-64. (Pubitemid 24177056)
69. Hemminki A, Markie D, Tomlinson I, et al. A serine/ threonine kinase gene defective in Peutz-Jeghers syndrome. Nature. 1998;391:184-7. (Pubitemid 28092478)
70. Jenne DE, Reimann H, Nezu J, et al. Peutz-Jeghers syndrome is caused by mutations in a novel serine threonine kinase. Nat Genet. 1998;18:38-43. (Pubitemid 28027876)
71. Zbuk KM, Eng C. Hamartomatous polyposis syndromes. Nat Clin Pract Gastroenterol Hepatol. 2007;4:492-502. (Pubitemid 47371630)
72. Tomlinson IP, Houlston RS. Peutz-Jeghers syndrome. J Med Genet. 1997;34:1007-11. (Pubitemid 27522107)
73. Udd L, Katajisto P, Rossi DJ, et al. Suppression of Peutz- Jeghers polyposis by inhibition of cyclooxygenase-2. Gastroenterology. 2004;127:1030-7. (Pubitemid 39345871)
74. Wei C, Amos CI, Zhang N, et al. Suppression of Peutz- Jeghers polyposis by targeting mammalian target of rapamycin signaling. Clin Cancer Res. 2008;14:1167-71. (Pubitemid 351302565)
75. Howe JR, Mitros FA, Summers RW. The risk of gastrointestinal carcinoma in familial juvenile polyposis. Ann Surg Oncol. 1998;5:751-6. (Pubitemid 28565728)
76. Scott-Conner CE, Hausmann M, Hall TJ, Skelton DS, Anglin BL, Subramony C. Familial juvenile polyposis: patterns of recurrence and implications for surgical management. J Am Coll Surg. 1995;181:407-13.
77. Desai DC, Murday V, Phillips RK, Neale KF, Milla P, Hodgson SV. A survey of phenotypic features in juvenile polyposis. J Med Genet. 1998;35:476-81. (Pubitemid 28252156)
78. Jass JR, Williams CB, Bussey HJ, Morson BC. Juvenile polyposis - a precancerous condition. Histopathology. 1988;13:619-30. (Pubitemid 19038606)
79. Howe JR, Roth S, Ringold JC, et al. Mutations in the SMAD4/DPC4 gene in juvenile polyposis. Science. 1998;280:1086-8. (Pubitemid 28234951)
80. Sweet K, Willis J, Zhou XP, et al. Molecular classification of patients with unexplained hamartomatous and hyperplastic polyposis. JAMA. 2005;294:2465-7
81. 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;338:1481-7. (Pubitemid 28226275)
82. Hampel H, Stephens JA, Pukkala E, et al. Cancer risk in hereditary nonpolyposis colorectal cancer syndrome: later age of onset. Gastroenterology. 2005;129:415-21. (Pubitemid 41096629)
83. Rijcken FE, Hollema H, Kleibeuker JH. Proximal adenomas in hereditary non-polyposis colorectal cancer are prone to rapid malignant transformation. Gut. 2002;50: 382-6. (Pubitemid 34161056)
84. Watson P, Lynch HT. The tumor spectrum in HNPCC. Anticancer Res. 1994;14:1635-9. (Pubitemid 24356997)
85. Chung DC, Rustgi AK. The hereditary nonpolyposis colorectal cancer syndrome: genetics and clinical implications. Ann Intern Med. 2003;138:560-70.
86. Lynch HT, Fusaro RM. The Muir-Torre syndrome in kindreds with hereditary nonpolyposis colorectal cancer (Lynch syndrome): a classic obligation in preventive medicine. J Am Acad Dermatol. 1999;41:797-9. (Pubitemid 29514043)
87. 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. (Pubitemid 24014559)
88. 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.
89. Leach FS, Nicolaides NC, Papadopoulos N, et al. Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer. Cell. 1993;75:1215-25. (Pubitemid 24006117)
90. Papadopoulos N, Nicolaides NC, Wei YF, et al. Mutation of a mutL homolog in hereditary colon cancer. Science. 1994;263:1625-9. (Pubitemid 24128369)
91. Nicolaides NC, Papadopoulos N, Liu B, et al. Mutations of two PMS homologues in hereditary nonpolyposis colon cancer. Nature. 1994;371:75-80. (Pubitemid 24277467)
92. Liu B, Parsons RE, Hamilton SR, et al. hMSH2 mutations in hereditary nonpolyposis colorectal cancer kindreds. Cancer Res. 1994;54:4590-4. (Pubitemid 24276477)
93. Peltomaki P, Aaltonen LA, Sistonen P, et al. Genetic mapping of a locus predisposing to human colorectal cancer. Science. 1993;260:810-2. (Pubitemid 23167610)
94. Lindblom A, Tannergard P, Werelius B, Nordenskjold M. Genetic mapping of a second locus predisposing to hereditary non-polyposis colon cancer. Nat Genet. 1993;5:279-82. (Pubitemid 23330393)
95. Prolla TA, Pang Q, Alani E, Kolodner RD, Liskay RM. MLH1, PMS1, and MSH2 interactions during the initiation of DNA mismatch repair in yeast. Science. 1994; 265:1091-3. (Pubitemid 24293075)
96. 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;56:213-25. (Pubitemid 44175050)
97. Deng G, Bell I, Crawley S, et al. BRAF mutation is frequently present in sporadic colorectal cancer with methylated hMLH1, but not in hereditary nonpolyposis colorectal cancer. Clin Cancer Res. 2004;10:191-5. (Pubitemid 38114179)
98. Domingo E, Niessen RC, Oliveira C, et al. BRAF-V600E is not involved in the colorectal tumorigenesis of HNPCC in patients with functional MLH1 and MSH2 genes. Oncogene. 2005;24:3995-8. (Pubitemid 40896411)
99. Weisenberger DJ, Siegmund KD, Campan M, et al. CpG island methylator phenotype underlies sporadic microsatellite instability and is tightly associated with BRAF mutation in colorectal cancer. Nat Genet. 2006;38:787-93. (Pubitemid 43980599)
100. Kastrinos F, Stoffel EM, Balmana J, Steyerberg EW, Mercado R, Syngal S. Phenotype comparison of MLH1 and MSH2 mutation carriers in a cohort of 1,914 individuals undergoing clinical genetic testing in the United States. Cancer Epidemiol Biomarkers Prev. 2008;17:2044-51.
101. Goecke T, Schulmann K, Engel C, et al. Genotypephenotype comparison of German MLH1 and MSH2 mutation carriers clinically affected with Lynch syn- drome: a report by the German HNPCC Consortium. J Clin Oncol. 2006;24:4285-92. (Pubitemid 46630786)
102. Watson P, Vasen HF, Mecklin JP, et al. The risk of extra-colonic, extra-endometrial cancer in the Lynch syndrome. Int J Cancer. 2008;123:444-9. (Pubitemid 351842032)
103. Matthews KS, Estes JM, Conner MG, et al. Lynch syndrome in women less than 50 years of age with endometrial cancer. Obstet Gynecol. 2008;111:1161-6. (Pubitemid 351620352)
104. Senter L, Clendenning M, Sotamaa K, et al. The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations. Gastroenterology. 2008;135:419-28.
105. Niessen RC, Kleibeuker JH, Westers H, et al. PMS2 involvement in patients suspected of Lynch syndrome. Genes Chromosomes Cancer. 2009;48:322-9.
106. Vasen HF, Mecklin JP, Khan PM, Lynch HT. The International Collaborative Group on Hereditary Non-Polyposis Colorectal Cancer (ICG-HNPCC). Dis Colon Rectum. 1991;34:424-5.
107. Syngal S, Fox EA, Eng C, Kolodner RD, Garber JE. Sensitivity and specificity of clinical criteria for hereditary non-polyposis colorectal cancer associated mutations in MSH2 and MLH1. J Med Genet. 2000;37:641-5.
108. Liu T, Wahlberg S, Burek E, Lindblom P, Rubio C, Lindblom A. Microsatellite instability as a predictor of a mutation in a DNA mismatch repair gene in familial colorectal cancer. Genes Chromosomes Cancer. 2000; 27:17-25.
109. Lipton LR, Johnson V, Cummings C, et al. Refining the Amsterdam criteria and Bethesda guidelines: testing algorithms for the prediction of mismatch repair mutation status in the familial cancer clinic. J Clin Oncol. 2004;22:4934-43. (Pubitemid 46638618)
110. 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; 116:1453-6. (Pubitemid 29258894)
111. Hampel H, Frankel WL, Martin E, et al. Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer). N Engl J Med. 2005;352:1851-60.
112. 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. (Pubitemid 38256271)
113. Hall MJ. Counterpoint: implementing population genetic screening for Lynch Syndrome among newly diagnosed colorectal cancer patients - will the ends justify the means? J Natl Compr Cancer Netw. 2010;8: 606-11.
114. Ribic CM, Sargent DJ, Moore MJ, et al. Tumor microsatellite- instability status as a predictor of benefit from fluorouracil-based adjuvant chemotherapy for colon cancer. N Engl J Med. 2003;349:247-57. (Pubitemid 36859476)
115. 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;296:1507-17. (Pubitemid 44465515)
116. Guillem JG, Wood WC, Moley JF, et al. ASCO/SSO review of current role of risk-reducing surgery in common hereditary cancer syndromes. J Clin Oncol. 2006; 24:4642-60. (Pubitemid 46630963)
117. 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;354:261-9. (Pubitemid 43113031)