What's new in hereditary colorectal cancer?

Archives of Pathology and Laboratory Medicine

Volumn 129, Issue 11, 2005, Pages 1380-1384

  Jass, Jeremy R ^a  

^a MCGILL UNIVERSITY   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

MICROSATELLITE DNA; PROTEIN MLH1; PROTEIN MSH2;

AUTOSOMAL RECESSIVE DISORDER; CANCER DIAGNOSIS; CLINICAL PRACTICE; COLON ADENOMA; COLON CARCINOGENESIS; COLON POLYPOSIS; COLORECTAL CANCER; DNA METHYLATION; DNA REPAIR; FAMILIAL CANCER; HUMAN; MICROSATELLITE INSTABILITY; MISMATCH REPAIR; PRACTICE GUIDELINE; PRECANCER; REVIEW; SYNDROME DELINEATION;

ADENOMATOUS POLYPOSIS COLI; CARRIER PROTEINS; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MEDICAL ONCOLOGY; NATIONAL INSTITUTES OF HEALTH (U.S.); NUCLEAR PROTEINS; PRACTICE GUIDELINES; UNITED STATES;

EID: 27744556975     PISSN: 00039985     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

References (48)

1. Bussey HJR. Familial Polyposis Coli. Baltimore, Md: Johns Hopkins Press; 1975.
2. Järvinen HJ, 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.
3. Spirio L, Olschwang S, Groden J, et al. Alleles of the APC gene: an attenuated form of familial polyposis. Cell. 1993;75:951-957.
4. Ionescu DN, Papachristou G, Schoen RE, Hedge M, Richards CS, Monzon FA. Attenuated familial adenomatous polyposis: a case report with mixed features and review of genotype-phenotype correlation. Arch Pathol Lab Med. 2005;129:1401-1404.
5. Otori K, Konishi M, Sugiyama K, et al. Infrequent somatic mutation of the adenomatous polyposis coli gene in aberrant crypt foci of human colon tissue. Cancer. 1998;83:896-900.
6. Kim JC, Koo KH, Lee DH, et al. Mutations at the APC exon 15 in the colorectal neoplastic tissues of serial array. Int J Colorectal Dis. 2001;16:102-107.
7. Maltzman T, Knoll K, Martinez ME, et al. Ki-ras proto-oncogene mutations in sporadic colorectal adenomas: relationship to histologic and clinical characteristics. Gastroenterology. 2001;121:302-309.
8. Samowitz WS, Powers MD, Spirio LN, Nollet F, van Roy F, Slattery ML. β-Catenin mutations are more frequent in small colorectal adenomas than in larger adenomas and invasive carcinomas. Cancer Res. 1999;59:1442-1444.
9. Matsumoto T, Iida M, Kobori Y, et al. Serrated adenoma in familial adenomatous polyposis: relation to germline APC gene mutation. Gut. 2002;50:402-404.
10. Leggett BA, Devereaux B, Biden K, Searle J, Young J, Jass J. Hyperplastic polyposis: association with colorectal cancer. Am J Surg Pathol. 2001;25:177-184.
11. 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;30:227-232.
12. Kambara T, Whitehall VLJ, Spring KJ, et al. Role of inherited defects of MYH in the development of sporadic colorectal cancer. Genes Chromosomes Cancer. 2004;40:1-9.
13. Gupta C, Mazzara PF. High-grade pancreatic intraepithelial neoplasia in a patient with familial adenomatous polyposis. Arch Pathol Lab Med. 2005;129:1398-1400.
14. 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.
15. Vasen HFA, Mecklin J-P, 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, Peltomaki PS, Leach FS, et al. Clues to the pathogenesis of familial colorectal cancer. Science. 1993;260:812-816.
17. Aaltonen LA, Peltomaki P, Mecklin J-P, et al. Replication errors in benign and malignant tumours from hereditary nonpolyposis colorectal cancer patients. Cancer Res. 1994;54:1645-1648.
18. Lindor NM, Burgart LJ, Leontovich O, et al. Immunohistochemistry versus microsatellite instability testing in phenotyping colorectal tumors. J Clin Oncol. 2002;20:1043-1048.
19. Burgart LJ. Testing for defective DNA mismatch repair in colorectal carcinoma: a practical guide. Arch Pathol Lab Med. 2005;129:1385-1389.
20. Jass JR, Cottier DS, Jeevaratnam P, et al. Diagnostic use of microsatellite instability in hereditary non-polyposis colorectal cancer. Lancet. 1995;346:1200-1201.
21. Jass JR, Pokos V, Arnold JL, et al. Colorectal neoplasms detected colonoscopically in at-risk members of colorectal cancer families stratified by the demonstration of DNA microsatellite instability. J Mol Med. 1996;74:547-551.
22. Lindor NM, Rabe K, Petersen GM, et al. Lower cancer incidence in Amsterdam-1 criteria families without mismatch repair deficiency: familial colorectal cancer type X. JAMA. 2005;293:1979-1985.
23. 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.
24. Thibodeau SN, Bren G, Schaid D. Microsatellite instability in cancer of the proximal colon. Science. 1993;260:816-819.
25. 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.
26. Jass JR. HNPCC and sporadic MSI-H colorectal cancer: a review of the morphological similarities and differences. Fam Cancer. 2004;3:93-100.
27. Kambara T, Simms LA, Whitehall VLJ, et al. BRAF mutation and CpG island methylation: an alternative pathway to colorectal cancer. Gut. 2004;53:1137-1144.
28. McGivern A, Wynter CVA, Whitehall VLJ, et al. Promoter hypermethylation frequency and BRAF mutations distinguish hereditary non-polyposis colon cancer from sporadic MSI-H colon cancer. Fam Cancer. 2004;3:101-107.
29. Kruhoffer M, Jensen JL, Laiho P, et al. Gene expression signatures for colorectal cancer microsatellite status and HNPCC. Br J Cancer. 2005;92:2240-2248.
30. Gazzoli I, Loda M, Garber J, Syngal S, Kolodner RD. A hereditary nonpolyposis colorectal carcinoma case associated with hypermethylation of the hMLH1 gene in normal tissue and loss of heterozygosity of the unmethylated allele in the resulting microsatellite instability-high tumor. Cancer Res. 2002;62:3925-3928.
31. Miyakura Y, Sugano K, Akasu T, et al. Extensive but hemiallelic methylation of the hMLH1 promoter region in early-onset sporadic colon cancers with microsatellite instability. Clin Gastroenterol Hepatol. 2004;2:147-156.
32. Suter CM, Martin DI, Ward RL. Germline epimutation of MLH1 in individuals with multiple cancers. Nat Genet. 2004;36:497-501.
33. Jass JR. Clinical significance of early-onset "sporadic" colorectal cancer with microsatellite instability. Dis Colon Rectum. 2003;46:1305-1309.
34. 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.
35. 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.
36. 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.
37. Bacher JW, Flanagan LA, Smalley RL, et al. Development of a fluorescent multiplex assay for detection of MSI-high tumors. Dis Markers. 2004;20:237-250.
38. Chai SM, Zeps N, Shearwood A-M, et al. Screening for defective DNA mismatch repair in stage II and III colorectal cancer patients. Clin Gastroenterol Hepatol. 2004;2:1017-1025.
39. Pinol V, Castells A, Andreu M, et al. Accuracy of revised Bethesda guidelines, microsatellite instability, and immunohistochemistry for the identification of patients with hereditary non-polyposis colorectal cancer. JAMA. 2005;293:1986-1994.
40. 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.
41. de Jong AE, van Puijenbroek M, Hendriks Y, et al. Microsatellite instability, immunohistochemistry, and additional PMS2 staining in suspected hereditary nonpolyposis colorectal cancer. Clin Cancer Res. 2004;10:972-980.
42. Worthley DL, Walsh MD, Barker M, et al. Familial mutations in PMS2 can cause autosomal dominant hereditary nonpolyposis colorectal cancer. Gastroenterology. 2005;128:1431-1436.
43. Truninger K, Menigatti M, Luz J, et al. Immunohistochemical analysis reveals high frequency of PMS2 defects in colorectal cancer. Gastroenterology. 2005;128:1160-1171.
44. Gologan A, Krasinskas A, Hunt J, Thull DL, Farkas L, Sepulveda AR. Performance of the revised Bethesda guidelines for identification of colorectal carcinomas with high level of microsatellite instability. Arch Pathol Lab Med. 2005;129:1390-1397.
45. Greenson JK, Bonner JD, Ben-Yzhak O, et al. Phenotype of microsatellite unstable colorectal carcinomas. Am J Surg Pathol. 2003;27:563-570.
46. Young J, Barker MA, Simms LA, et al. BRAF mutation and variable levels of microsatellite instability characterize a syndrome of familial colorectal cancer. Clin Gastroenterol Hepatol. 2005;3:254-263.
47. Frazier ML, Xi L, Zong J, et al. Association of the CpG island methylator phenotype with family history of cancer in patients with colorectal cancer. Cancer Res. 2003;63:4805-4808.
48. Ward RL, Williams R, Law M, Hawkins NJ. The CpG island methylator phenotype is not associated with a personal or family history of cancer. Cancer Res. 2004;64:7618-7621.