Hereditary nonpolyposis colorectal cancer

Molecular Pathology in Clinical Practice

Volumn , Issue , 2007, Pages 223-232

  Thorland, Erik C ^a   Thibodeau, Stephen N ^a  

^a MAYO CLINIC   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 80051698559     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1007/978-0-387-33227-7_19     Document Type: Chapter

References (70)

1. Lynch HT, Smyrk TC, Watson P, et al. Genetics, natural history, tumor spectrum, and pathology of hereditary nonpolyposis colorectal cancer: An updated review. Gastroenterology. 1993;104:1535-1549
2. Lynch HT, Shaw MW, Magnuson CW, Larsen AL, Krush AJ. Hereditary factors in cancer. Study of two large midwestern kindreds. Arch Intern Med. 1966;117:206-212
3. Lynch HT, Krush AJ. Cancer family G revisited: 1895-1970. Cancer. 1971;27:1505-1511
4. Lynch HT, de la Chapelle A. Genetic susceptibility to non-polyposis colorectal cancer. J Med Genet. 1999;36:801-818
5. Watson P, Lynch HT. The tumor spectrum in HNPCC. Anticancer Res. 1994;14:1635-1639
6. Lynch HT, Fusaro RM, Roberts L, Voorhees GJ, Lynch JF.Muir-Torre syndrome in several members of a family with a variant of the Cancer Family Syndrome. Br J Dermatol. 1985;113:295-301
7. Jass JR, Stewart SM. Evolution of hereditary non-polyposis colorectal cancer. Gut. 1992;33:783-786
8. Jass JR.Colorectal adenoma progression and genetic change: Is there a link? Ann Med. 1995;27:301-306
9. Alexander J, Watanabe T, Wu TT, Rashid A, Li S, Hamilton SR. Histopathological identification of colon cancer with microsatellite instability. Am J Pathol. 2001;158:527-535
10. Aarnio M, Mustonen H, Mecklin JP, Jarvinen HJ. Prognosis of colorectal cancer varies in different high-risk conditions. Ann Med. 1998;30:75-80
11. Frei JV.Hereditary nonpolyposis colorectal cancer (Lynch syndrome II). Diploid malignancies with prolonged survival. Cancer. 1992;69: 1108-1111
12. Kouri M, Laasonen A, Mecklin JP, Jarvinen H, Franssila K, Pyrhonen S. Diploid predominance in hereditary nonpolyposis colorectal carcinoma evaluated by flow cytometry. Cancer. 1990;65:1825-1829
13. Dolcetti R, Viel A, Doglioni C, et al. High prevalence of activated intraepithelial cytotoxic T lymphocytes and increased neoplastic cell apoptosis in colorectal carcinomas with microsatellite instability. Am J Pathol. 1999;154:1805-1813
14. Gryfe R, Kim H, Hsieh ET, et al. Tumor microsatellite instability and clinical outcome in young patients with colorectal cancer. N Engl J Med. 2000;342:69-77
15. Vasen HF, Mecklin JP, Khan PM, Lynch HT. The International Collaborative Group on Hereditary Non-Polyposis Colorectal Cancer (ICG-HNPCC). Dis Colon Rectum. 1991;34:424-425
16. 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
17. Cunningham JM, Cheong-Yong K, Christensen E, et al. The frequency of hereditary defective mismatch repair in a prospective series of unselected colorectal carcinomas. Am J Hum Genet. 2001;69:780-790
18. 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
19. 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
20. Thibodeau SN, Bren G, Schaid D. Microsatellite instability in cancer of the proximal colon [comments]. Science. 1993;260:816-819
21. Ionov Y, Peinado MA, Malkhosyan S, Shibata D, Perucho M. Ubiquitous somatic mutations in simple repeated sequences reveal a new mechanism for colonic carcinogenesis. Nature. 1993;363:558-561
22. Aaltonen LA, Peltomaki P, Leach FS, et al. Clues to the pathogenesis of familial colorectal cancer. Science. 1993;260:812-816
23. Lander ES, Linton LM, Birren B, et al. Initial sequencing and analysis of the human genome. Nature. 2001;409:860-921
24. Strand M, Prolla TA, Liskay RM, Petes TD. Destabilization of tracts of simple repetitive DNA in yeast by mutations affecting DNA mismatch repair. Nature. 1993;365:274-276
25. Peltomaki P, Aaltonen LA, Sistonen P, et al.Genetic mapping of a locus predisposing to human colorectal cancer. Science. 1993;260:810-812
26. Fishel R, Lescoe MK, Rao MR, et al. The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer. Cell. 1993;75:1027-1038
27. Leach FS, Nicolaides NC, Papadopoulos N, et al.Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer. Cell. 1993;75:1215-1225
28. Fishel R, Kolodner RD. Identification of mismatch repair genes and their role in the development of cancer. Curr Opin Genet Dev. 1995;5:382-395
29. Buermeyer AB, Deschenes SM, Baker SM, Liskay RM. Mammalian DNA mismatch repair. Annu Rev Genet. 1999;33:533-564
30. Malkhosyan S, McCarty A, Sawai H, Perucho M. Differences in the spectrum of spontaneous mutations in the hprt gene between tumor cells of the microsatellite mutator phenotype. Mutat Res. 1996;316:249-259
31. Ohzeki S, Tachibana A, Tatsumi K, Kato T. Spectra of spontaneous mutations at the hprt locus in colorectal carcinoma cell lines defective in mismatch repair. Carcinogenesis. 1997;18:1127-1133
32. 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;368:258-261
33. Papadopoulos N, Nicolaides NC, Wei YF, et al. Mutation of a mutL homolog in hereditary colon cancer. Science. 1994;263:1625-1629
34. 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
35. Nicolaides NC, Papadopoulos N, Liu B, et al. Mutations of two PMS homologues in hereditary nonpolyposis colon cancer. Nature. 1994;371:75-80
36. Wu Y, Berends MJ, Sijmons RH, et al. A role for MLH3 in hereditary nonpolyposis colorectal cancer. Nat Genet. 2001;29:137-138
37. Akiyama Y, Sato H, Yamada T, et al. Germ-line mutation of the hMSH6/GTBP gene in an atypical hereditary nonpolyposis colorectal cancer kindred. Cancer Res. 1997;57:3920-3923
38. 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
39. Wu Y, Berends MJ, Mensink RG, et al. Association of hereditary nonpolyposis colorectal cancer-related tumors displaying low microsatellite instability with MSH6 germline mutations. Am J Hum Genet. 1999;65:1291-1298
40. Beck NE, Tomlinson IP, Homfray T, et al. Use of SSCP analysis to identify germline mutations in HNPCC families fulfilling the Amsterdam criteria. Hum Genet. 1997;99:219-224
41. Wagner A, Barrows A, Wijnen JT, et al. Molecular analysis of hereditary nonpolyposis colorectal cancer in the United States: High mutation detection rate among clinically selected families and characterization of an American founder genomic deletion of the MSH2 gene. Am J Hum Genet. 2003;72:1088-1100
42. Lindor NM, Rabe MS, Peterson GM, et al. Lower cancer incidence in Amsterdam-I criteria families without mismatch repair deficiency. JAMA. 2005;293:1979-1985
43. Lynch HT, Smyrk T, Lynch J. An update of HNPCC (Lynch syndrome). Cancer Genet Cytogenet. 1997;93:84-99
44. Nystrom-Lahti M, Wu Y, Moisio AL, et al.DNA mismatch repair gene mutations in 55 kindreds with verified or putative hereditary nonpolyposis colorectal cancer. Hum Mol Genet. 1996;5:763-769
45. Lewis CM, Neuhausen SL, Daley D, et al. Genetic heterogeneity and unmapped genes for colorectal cancer.Cancer Res. 1996;56:1382-1388
46. Huang J, Kuismanen SA, Liu T, et al. MSH6 and MSH3 are rarely involved in genetic predisposition to nonpolypotic colon cancer. Cancer Res. 2001;61:1619-1623
47. Baudhuin LM, Burgart LJ, Leontovich O, et al. Use of microsatellite instability and immunohistochemistry testing for the identification of individuals at risk for Lynch syndrome. Familial Cancer. 2005;4: 255-265
48. Bhattacharyya NP, Skandalis A, Ganesh A, Groden J, Meuth M. Mutator phenotypes in human colorectal carcinoma cell lines. Proc Natl Acad Sci U S A. 1994;91:6319-6323
49. Thibodeau SN, French AJ, Cunningham JM, et al. Microsatellite instability in colorectal cancer: Different mutator phenotypes and the principal involvement of hMLH1. Cancer Res. 1998;58:1713-1718
50. Zhou XP, Hoang JM, Li YJ, et al. Determination of the replication error phenotype in human tumors without the requirement for matching normal DNA by analysis of mononucleotide repeat microsatellites. Genes Chromosomes Cancer. 1998;21:101-107
51. Umar A, Boland CR, Terdiman JP, et al. Revised Bethesda guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability. J Nat Cancer Inst. 2004;96:261-267
52. Pastrello C, Baglioni S, Tibiletti MG, Papi L, Fornasarig M, Morabito A, Agostini M, Genuardi M, Viel A: Stability of BAT26 in tumours of hereditary nonpolyposis colorectal cancer patients with MSH2 intragenic deletion, Eur J Hum Genet. 2006,14:63-68
53. Konishi M, Kikuchi-Yanoshita R, Tanaka K, et al. Molecular nature of colon tumors in hereditary nonpolyposis colon cancer, familial polyposis, and sporadic colon cancer. Gastroenterology. 1996;111: 307-317
54. Jass JR, Biden KG, Cummings MC, et al. Characterisation of a subtype of colorectal cancer combining features of the suppressor and mild mutator pathways. J Clin Pathol. 1999;52:455-460
55. Cunningham JM, Boardman LA, Burgart LJ, Thibodeau SN. Microsatellite instability in colon cancers. In:Wells R, Warren S, eds. Genetic Instabilities and Hereditary Neurological Diseases.Academic Press, San Diego, CA; 1998:791-807
56. Kane MF, Loda M, Gaida GM, 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
57. Cunningham JM, Christensen ER, Tester DJ, et al.Hypermethylation of the hMLH1 promoter in colon cancer with microsatellite instability. Cancer Res. 1998;58:3455-3460
58. Dietmaier W, Wallinger S, Bocker T, Kullmann F, Fishel R, Ruschoff J. Diagnostic microsatellite instability: Definition and correlation with mismatch repair protein expression. Cancer Res. 1997;57:4749-4756
59. Thibodeau SN, French AJ, Roche PC, et al. Altered expression of hMSH2 and hMLH1 in tumors with microsatellite instability and genetic alterations in mismatch repair genes. Cancer Res. 1996;56: 4836-4840
60. Ganguly A, Rock MJ, Prockop DJ. Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DNA fragments: Evidence for solvent-induced bends in DNA heteroduplexes [published erratum appears in Proc Natl Acad Sci U S A. 1994;91:5217]. Proc Natl Acad Sci U S A. 1993;90:10325-10329
61. Orita M, Iwahana H, Kanazawa H, Hayashi K, Sekiya T. Detection of polymorphisms of human DNA by gel electrophoresis as singlestrand conformation polymorphisms. Proc Natl Acad Sci U S A. 1989;86:2766-2770
62. Lerman LS, Silverstein K, Grinfeld E. Searching for gene defects by denaturing gradient gel electrophoresis. Cold Spring Harb Symp Quant Biol. 1986;51:285-297
63. Underhill PA, Jin L, Lin AA, et al. Detection of numerous Y chromosome biallelic polymorphisms by denaturing high-performance liquid chromatography. Genome Res. 1997;7:996-1005
64. Powell SM, Petersen GM, Krush AJ, et al. Molecular diagnosis of familial adenomatous polyposis. N Engl J Med. 1993;329:1982-1987
65. Frischmeyer PA, Dietz HC. Nonsense-mediated mRNA decay in health and disease. Hum Mol Genet. 1999;8:1893-1900
66. Wijnen J, van der Klift H, Vasen H, et al. MSH2 genomic deletions are a frequent cause of HNPCC. Nat Genet. 1998;20:326-328
67. Wang Y, Friedl W, Lamberti C, et al. Hereditary nonpolyposis colorectal cancer: Frequent occurrence of large genomic deletions in MSH2 and MLH1 genes. Int J Cancer. 2003;103:636-641
68. Baudhuin LM, Mai M, French AJ, et al. Analysis of hMLH1 and hMSH2 gene dosage alterations in hererditary nonpolyposis colorectal cancer patients by novel methods. J Mol Diagn. 2005;7:26-235
69. Gille JJ, Hogervorst FB, Pals G, et al. Genomic deletions of MSH2 and MLH1 in colorectal cancer families detected by a novel mutation detection approach. Br J Cancer. 2002;87:892-897
70. Yan H, Papadopoulos N, Marra G, et al. Conversion of diploidy to haploidy. Nature. 2000;403:723-724