Interpretation of genetic test results for hereditary nonpolyposis colorectal cancer: Implications for clinical predisposition testing

JAMA

Volumn 282, Issue 3, 1999, Pages 247-253

  Syngal, Sapna ^a,b   Fox, Edward A ^b   Li, Christine ^b,d   Dovidio, Marisa ^b   Eng, Charis ^b,e   Kolodner, Richard D ^c   Garber, Judy E ^b,f  

^a BRIGHAM AND WOMEN S HOSPITAL   (United States)

^b HARVARD MEDICAL SCHOOL   (United States)

^c LUDWIG INSTITUTE FOR CANCER RESEARCH   (United States)

^d Millennium Predictive Medicine Inc   (United States)

^e OHIO STATE UNIVERSITY   (United States)

^f DANA FARBER CANCER INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CANCER GENETICS; CANCER SUSCEPTIBILITY; CANCER TEST; CLINICAL ARTICLE; COLORECTAL CANCER; FAMILIAL CANCER; GENE MUTATION; GENETIC ANALYSIS; GENETIC COUNSELING; GENETIC HETEROGENEITY; HUMAN; MISSENSE MUTATION; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

EID: 0033591855     PISSN: 00987484     EISSN: None     Source Type: Journal    
DOI: 10.1001/jama.282.3.247     Document Type: Article

References (53)

1. Statement of the American Society of Clinical Oncology: genetic testing for cancer susceptibility, adopted on February 20, 1996. J Clin Oncol. 1996;14:1730-1736.
2. Marra G, Boland CR. Hereditary nonpolyposis colorectal cancer: the syndrome, the genes, and historical perspectives. J Natl Cancer Inst. 1995;87:1114-1125.
3. Vasen HFA, Wijnen JT, Menko FH, et al. Cancer risk in families with hereditary nonpolyposis colorectal cancer diagnosed by mutation analysis. Gastroenterology. 1996;110:1020-1027.
4. Dunlop MG, Farrington SM, Carothers AD, et al. Cancer risk associated with germline DNA mismatch repair gene mutations. Hum Mol Genet. 1997;6:105-110.
5. Watson P, Vasen HFA, Mecklin JP, Jarvinen H, Lynch HT. The risk of endometrial cancer in hereditary nonpolyposis colorectal cancer. Am J Med. 1994; 96:516-520.
6. Offit K. Colon cancer syndromes. In: Offit K, ed. Clinical Cancer Genetics. New York, NY: Wiley-Liss Inc; 1998:125-149.
7. Bellacosa A, Genuardi M, Anti M, Viel A, Ponz de Leon M. Hereditary nonpolyposis colorectal cancer: review of clinical, molecular genetics, and counseling aspects. Am J Med Genet. 1996;62:353-364.
8. 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.
9. 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.
10. Papadopoulos N, Nicolaides NC, Wei YF, et al. Mutation of a mutL homolog in hereditary colon cancer. Science. 1994;263:1625-1629.
11. Leach FS, Nicolaides NC, Papadopoulos N, et al. Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer. Cell. 1993;75:1215-1225.
12. Liu B, Parsons R, Papadopolous N, et al. Analysis of mismatch repair genes in hereditary nonpolyposis colorectal cancer patients. Nat Med. 1996;2:169-174.
13. Wijnen J, Vasen H, Khan PM, et al. Seven new mutations in hMSH2, an HNPCC gene, identified by denaturing gradient-gel electrophoresis. Am J Hum Genet. 1995;56:1060-1066.
14. Tannergard P, Lipford JR, Kolodner R, Frodin JE, Nordenskjold M, Lindblom A. Mutation screening in the hMLH1 gene in Swedish hereditary nonpolyposis colon cancer families. Cancer Res. 1995;55:6092-6096.
15. Hamilton SR, Liu B, Parsons RE, et al. The molecular basis of Turcot's syndrome. N Engl J Med. 1995; 332:839-847.
16. Nystrom-Lahti M, Wu Y, Mosio A-L, et al. DNA mismatch repair gene mutation in 55 kindreds with verified or putative hereditary non-polyposis colorectal cancer. Hum Mol Genet. 1996;5:763-769.
17. Wijnen J, Khan PM, Vasen H, et al. Majority of hMLHI mutations responsible for hereditary nonpolyposis colorectal cancer cluster at the exonic region 15-16. Am J Hum Genet. 1996;58:300-307.
18. Kohonen-Corish MR, Doe VL, Kool DA, et al. RNA-based mutation screening in hereditary non-polyposis colorectal cancer. Am J Hum Genet. 1996; 59:818-824.
19. Kolodner RD, Hall NR, Lipford J, et al. Structure of the human MLH1 locus and analysis of a large hereditary nonpolyposis colorectal carcinoma kindred for mlh1 mutations. Cancer Res. 1995;55:242-248.
20. Mauillon JL, Michel P, Limacher J-M, et al. Identification of novel germline hMLH1 mutations including a 22 kb alu-mediated deletion in patients with familial colorectal cancer. Cancer Res. 1996;56:242-248.
21. Luce MC, Marra G, Chauhan DP, et al. In vitro transcription/translation assay for the screening of hMLH1 and hMSH2 mutations in familial colon cancer. Gastroenterology. 1995;109:1368-1374.
22. Han HJ, Maruyama M, Baba S, Park JG, Nakamura Y. Genomic structure of human mismatch repair gene, hMLH1, and its mutation analysis in patients with hereditary non-polyposis colorectal cancer (HNPCC). Hum Mol Genet. 1995;4:237-242.
23. Nystrom-Lahti M, Kristo P, Nicolaides NC, et al. Founding mutations and Alu-mediated recombination in hereditary colon cancer. Nat Med. 1995;1: 1203-1206.
24. Thibodeau SN, Bren G, Schaid D. Microsatellite instability in cancer of the proximal colon. Science. 1993;260:816-819.
25. Kolberg R. DNA microsatellite instability is suspect in still more cancers. J NIH Res. 1994;6:37-40.
26. Aaltonen LA, Peltomaki P, Leach FS, et al. Clues to the pathogenesis of familial colorectal cancer. Science. 1993;260:812-816.
27. Aaltonen LA, Peltomaki P, Mecklin JP, et al. Replication errors in benign and malignant tumors from hereditaiy nonpolyposis colorectal cancer patients. Cancer Res. 1994;54:1645-1648.
28. 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.
29. Jarvinen HJ, Mecklin J-P, Sistonen P. Screening reduces colorectal cancer rate in families with hereditary non-polyposis cotorectal cancer. Gastroenterology. 1995;108:1405-1411.
30. Cotton RGH, Scriver CR. Proof of "disease causing" mutation. Hum Mutat. 1998;12:1-3.
31. Moslein G, Tester DJ, Lindor NM, et al. Microsatellite instability and mutation analysis of hMSH2 and hMLH1 in patients with sporadic, familial and hereditary colorectal cancer. Hum Mol Genet. 1996;5: 1245-1252.
32. Weber TK, Conlon W, Petrelli NJ, et al. Genomic DNA-based hMSH2 and hMLH1 mutation screening in 32 eastern United States hereditary nonpolyposis colorectal cancer pedigrees. Cancer Res. 1997;57: 3798-3803.
33. Wijnen J, Khan PM, Vasen H, et al. Hereditary nonpolyposis colorectal cancer families not complying with the Amsterdam criteria show extremely low frequency of mismatch-repair-gene mutations. Am J Hum Genet. 1997;61:329-335.
34. Risinger JI, Barrett JC, Watson P, Lynch HT, Boyd J. Molecular genetic evidence of the occurrence of breast cancer as an integral tumor in patients with the hereditary nonpolyposis colorectal carcinoma syndrome. Cancer. 1996;77:1836-1843.
35. Buerstedde JM, Alday P, Torhorst J, Weber W, Muller H, Scott R. Detection of new mutations in six out of 10 Swiss HNPCC families by genomic sequencing of the hMSH2 and hMLH1 genes. J Med Genet. 1995;32:909-912.
36. Borresen AL, Lothe RA, Meling GI, et al. Somatic mutations in the hMSH2 gene in microsatellite unstable colorectal carcinomas. Hum Mol Genet. 1995; 4:2065-2072.
37. Mary JL, Bishop T, Kolodner R, et al. Mutational analysis of the hMSH2 gene reveals a three base pair deletion in a family predisposed to colorectal cancer development. Hum Mol Genet. 1994;3:2067-2069.
38. Liu B, Parsons RE, Hamilton SR, et al. hMSH2 mutations in hereditary nonpolyposis colorectal cancer kindreds. Cancer Res. 1994;54:4590-4594.
39. Froggatt NJ, Joyce JA, Davies R, et al. A frequent hMSH2 mutation in hereditary non-polyposis colon cancer syndrome. Lancet. 1995;345:727.
40. Pensotti V, Radice P, Presciuttini S, et al. Mean age of tumor onset in hereditary nonpolyposis colorectal cancer (HNPCC) families correlates with the presence of mutations in DNA mismatch repair genes. Genes Chromosomes Cancer. 1997;19:135-142.
41. Antonarakis S, for the Nomenclature Working Group. Recommendations for a nomenclature system for human gene mutations. Hum Mutat. 1998; 11:1-3.
42. Kowalski LD, Mutch DG, Herzog TG, Rader JS, Goodfellow PJ. Mutational analysis of MLH1 and MSH2 in 25 prospectively-acquired RER+ endometrial cancers. Genes Chromosomes Cancer. 1997;18: 219-227.
43. Maliaka YK, Chudina AP, Belev NF, Alday P, Bochkov NP, Buerstedde JM. CpG dinucleotides in the hMSH2 and hMLH1 genes are hotspots for HNPCC mutations. Hum Genet. 1996;97:251-255.
44. Liu B, Nicolaides NC, Markowitz S, et al. Mismatch repair gene defects in sporadic colorectal cancers with microsatellite instability. Nat Genet. 1995; 9:48-55.
45. Wu Y, Nystrom-Lahti M, Osinga J, et al. MSH2 and MLH1 mutations in sporadic replication error-positive colorectal carcinoma as assessed by two-dimensional DNA electrophoresis. Genes Chromosomes Cancer. 1997;18:269-278.
46. Herfarth KK, Kodner IJ, Whelan AJ, et al. Mutations in MLH1 are more frequent than in MSH2 in sporadic colorectal cancers with microsatellite instability. Genes Chromosomes Cancer. 1997;18:42-49.
47. Froggatt NJ, Joyce JA, Evans DGR, et al. MSH2 sequence variations and inherited colon cancer susceptibility [letter]. Eur J Cancer. 1996;32A:178.
48. Shimodaira H, Filosi N, Shibata H, et al. Functional analysis of human MLH1 gene mutations in Saccharomyces cerevisiae. Nat Genet. 1998;19:384-389.
49. Hackman P, Tannergard P, Osei-Mensa S, et al. A human compound heterozygote for two MLH1 missense mutations. Nat Genet. 1997;17:135-136.
50. Holtzman NA, Watson MS. Promoting Safe and Effective Genetic Testing in the United States. Final Report of the Task Force on Genetic Testing. Baltimore, Md: Johns Hopkins University Press; 1998.
51. Wijnen JT, Vasen HFA, Khan PM, et al. Clinical findings with implications for genetic testing in families with clustering of colorectal cancer. N Engl J Med. 1998;339:511-518.
52. Lynch HT, Smyrk TC. Identifying hereditary non-polyposis colorectal cancer. N Engl J Med. 1998;338: 1537-1538.
53. Giardiello FM, Brensinger JD, Petersen GM, et al. The use and interpretation of commercial APC testing for familial adenomatous polyposis. W Engl J Med. 1997;336:823-827.