Who should be sent for genetic testing in hereditary colorectal cancer syndromes?

Journal of Clinical Oncology

Volumn 25, Issue 23, 2007, Pages 3534-3542

  Lynch, Henry T ^a   Boland, C Richard ^a   Rodriguez Bigas, Miguel A ^a   Amos, Christopher ^a   Lynch, Jane P ^a   Lynch, Patrick M ^a  

^a CREIGHTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

B RAF KINASE;

COLON RESECTION; COLORECTAL CANCER; DECISION MAKING; DNA SEQUENCE; FAMILIAL CANCER; FAMILY HISTORY; GENETIC ANALYSIS; GENETIC COUNSELING; HUMAN; MUTATIONAL ANALYSIS; PEUTZ JEGHERS SYNDROME; PRIORITY JOURNAL; REVIEW; SURGICAL TECHNIQUE;

ADENOMATOUS POLYPOSIS COLI; COLORECTAL NEOPLASMS; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; ECONOMICS, MEDICAL; FAMILY HEALTH; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENETIC SCREENING; HETEROZYGOTE; HUMANS; MALE; MODELS, STATISTICAL; MUTATION; NEOPLASTIC SYNDROMES, HEREDITARY;

EID: 34548191532     PISSN: 0732183X     EISSN: None     Source Type: Journal    
DOI: 10.1200/JCO.2006.10.3119     Document Type: Review

References (63)

1. Sweet K, Willis J, Zhou X-P, et al: Molecular classification of patients with unexplained hamartomatous and hyperplastic polyposis. JAMA 294:2465-2473, 2005
2. Lynch HT, de la Chapelle A: Genomic medicine: Hereditary colorectal cancer. N Engl J Med 348:919-932, 2003
3. Lynch HT, de la Chapelle A: Genetic susceptibility to non-polyposis colorectal cancer. J Med Genet 36:801-818, 1999
4. Lynch HT, Boland CR, Gong G, et al: Phenotypic and genotypic heterogeneity in the Lynch syndrome: Diagnostic, surveillance and management implications. Eur J Hum Genet 14:390-402, 2006
5. Jeter JM, Kohlmann W, Gruber SB: Genetics of colorectal cancer. Oncology (Williston Park) 20:269-276, 2006
6. Smith RA, von Eschenbach AC, Wender R, et al: American Cancer Society guidelines for the early detection of cancer: Update of early detection guidelines for prostate, colorectal, and endometrial cancers; Also: Update 2001-testing for early lung cancer detection. CA Cancer J Clin 51:38-75, 2001
7. Winawer S, Fletcher R, Rex D, et al: Colorectal cancer screening and surveillance: Clinical guidelines and rationale-update based on new evidence. Gastroenterology 124:544-560, 2003
8. Church J, Simmang C, Collaborative Group of the Americas on Inherited Colorectal Cancer, et al: Practice parameters for the treatment of patients with dominantly inherited colorectal cancer (familial adenomatous polyposis and hereditary nonpolyposis colorectal cancer). Dis Colon Rectum 46:1001-1012, 2003
9. National Comprehensive Cancer Network: NCCN Practice Guidelines in Oncology. Available at: http://www.nccn.org/professionals/physician_gls/default. asp
10. Peltomaki P, Vasen H: Mutations associated with HNPCC predisposition: Update of ICG-HNPCC/INSiGHT mutation database. Dis Markers 20:269-276, 2004
11. Bertario L, Russo A, Sala P, et al: Multiple approach to the exploration of genotype-phenotype correlations in familial adenomatous polyposis. J Clin Oncol 21:1698-1707, 2003
12. Lynch HT, Smyrk T, McGinn T, et al: Attenuated familial adenomatous polyposis (AFAP): A phenotypically and genotypically distinctive variant of FAP. Cancer 76:2427-2433, 1995
13. Soravia C, Berk T, Madlensky L, et al: Genotype-phenotype correlations in attenuated adenomatous polyposis coli. Am J Hum Genet 62:1290-1301, 1998
14. Laken SJ, Petersen GM, Gruber SB, et al: Familial colorectal cancer in Ashkenazim due to a hypermutable tract in APC. Nat Genet 17:79-83, 1997
15. Locker GY, Kaul K, Weinberg DS, et al: The I1307K APC polymorphism in Ashkenazi Jews with colorectal cancer: Clinical and pathological features. Cancer Genet Cytogenet 169:33-38, 2006
16. Jass JR, Williams CB, Bussey HJ, et al: Juvenile polyposis: A precancerous condition. Histopathology 13:619-630, 1988
17. Wirtzfeld DA, Petrelli NJ, Rodriguez-Bigas MA: Hamartomatous polyposis syndromes: Molecular genetics, neoplastic risk, and surveillance recommendations. Ann Surg Oncol 8:319-327, 2001
18. Giardiello FM, Hamilton SR, Kern SE, et al: Colorectal neoplasia in juvenile polyposis or juvenile polyps. Arch Dis Child 66:971-975, 1991
19. Sieber OM, Lipton L, Crabtree M, et al: Multiple colorectal adenomas, classic adenomatous polyposis, and germline mutations in MYH. N Engl J Med 348:791-799, 2003
20. Hamilton SR, Liu B, Parsons RE, et al: The molecular basis of Turcot's syndrome. N Engl J Med 332:839-847, 1995
21. Balmaña J, Stockwell DH, Steyerberg EW, et al: Prediction of MLH1 and MSH2 mutations in Lynch syndrome. JAMA 296:1469-1478, 2006
22. Chen S, Wang W, Lee S, et al: Prediction of germline mutations and cancer risk in the Lynch syndrome. JAMA 296:1479-1487, 2006
23. Ford JM, Whittemore AS: Predicting and preventing hereditary colorectal cancer. JAMA 296:1521-1523, 2006
24. 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 296:1507-1517, 2006
25. Vasen HFA, Mecklin J-P, Meera Khan P, et al: The International Collaborative Group on Hereditary Nonpolyposis Colorectal Cancer (ICG-HNPCC). Dis Colon Rectum 34:424-425, 1991
26. Vasen HFA, Watson P, Mecklin J-P, et al: New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative Group on HNPCC. Gastroenterology 116:1453-1456, 1999
27. 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 58:5248-5257, 1998
28. Hampel H, Frankel WL, Martin E, et al: Screening for Lynch syndrome (hereditary nonpolyposis colorectal cancer). N Engl J Med 352:1851-1860, 2005
29. Piñol V, Castells A, Andreu M, et al: Accuracy of revised Bethesda guidelines, microsatellite instability, and immunohistochemistry for the identification of patients with hereditary nonpolyposis colorectal cancer. JAMA 293:1986-1994, 2005
30. Vasen HFA, Stormorken A, Menko FH, et al: MSH2 mutation carriers are at higher risk of cancer than MLH1 mutation carriers: A study of hereditary nonpolyposis colorectal cancer families. J Clin Oncol 19:4074-4080, 2001
31. Hendriks YMC, Wagner A, Morreau H, et al: Cancer risk in hereditary nonpolyposis colorectal cancer due to MSH6 mutations: Impact on counseling and surveillance. Gastroenterology 127:17-25, 2004
32. Buttin BM, Powell MA, Mutch DG, et al: Penetrance and expressivity of the MSH6 germline mutations in seven kindreds not ascertained by family history. Am J Hum Genet 74:1262-1269, 2004
33. 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 with families with MLH1 or MSH2 mutations: The German Hereditary Nonpolyposis Colorectal Cancer Consortium. J Clin Oncol 22:4449-4451, 2004
34. Wijnen J, de Leeuw W, Vasen H, et al: Familial endometrial cancer in female carriers of MSH6 germline mutations. Nat Genet 23:142-144, 1999
35. Lindor NM, Rabe K, Petersen GM, et al: Lower cancer incidence in Amsterdam-I criteria families without mismatch repair deficiency: Familial colorectal cancer type X. JAMA 293:1979-1985, 2005
36. Llor X, Pons E, Xicola RM, et al: Differential features of colorectal cancers fulfilling Amsterdam criteria without involvement of the mutator pathway. Clin Cancer Res 11:7304-7310, 2005
37. Bandipalliam P: Syndrome of early onset colon cancers, hematologic malignancies & features of neurofibromatosis in HNPCC families with homozygous mismatch repair gene mutations. Fam Cancer 4:323-333, 2005
38. Lagerstedt Robinson K, Liu T, Vandrovcova J, et al: Lynch syndrome (hereditary nonpolyposis colorectal cancer) diagnostics. J Natl Cancer Inst 99:291-299, 2007
39. Lynch HT, Lynch JF, Lynch PM: Toward a consensus in molecular diagnosis of hereditary nonpolyposis colorectal cancer (Lynch syndrome). J Natl Cancer Inst 99:261-263, 2007
40. Raevaara TE, Korhonen MK, Lohi H, et al: Functional significance and clinical phenotype of nontruncating mismatch repair variants of MLH1. Gastroenterology 129:537-549, 2005
41. Salovaara R, Loukola A, Kristo P, et al: Population-based molecular detection of hereditary nonpolyposis colorectal cancer. J Clin Oncol 18:2193-2200, 2000
42. 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 24:3995-3998, 2005
43. Hitchins MP, Wong JJL, Suthers G, et al: Inheritance of a cancer-associated MLH1 germ-line epimutation. N Engl J Med 356:697-705, 2007
44. Burt R, Neklason DW: Genetic testing for inherited colon cancer. Gastroenterology 128:1696-1716, 2005
45. 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 339:511-518, 1998
46. Barnetson RA, Tenesa A, Farrington SM, et al: Identification and survival of carriers of mutations in DNA mismatch-repair genes in colon cancer. N Engl J Med 354:2751-2763, 2006
47. Colon Cancer Genetics Group, University of Edinburgh and MRC Human Genetics Unit, Edinburgh: Prediction of DNA mismatch repair gene mutation status in incident colorectal cancer cases. http://www1.hgu.mrc.ac.uk/Softdata/ MMRpredict.php
48. Syngal S, Balmaña J: Lynch syndrome (hereditary nonpolyposis colorectal cancer): PREMM1,2 model - Prediction model for MLH1 and MSH2 gene mutations. http://www.dana-farber.org/pat/cancer/gastrointestinal/crc- calculator/
49. Marroni F, Pastrello C, Benatti P, et al: A genetic model for determining MSH2 and MLH1 carrier probabilities based on family history and tumor microsatellite instability. Clin Genet 69:254-262, 2006
50. Reference deleted.
51. Nugent KP, Spiegelman AD, Phillips RK: Life expectancy after colectomy and ileorectal anastomosis for familial adenomatous polyposis. Dis Colon Rectum 36:1059-1062, 1993
52. Vasen HF, van der Luijt RB, Slors JF, et al: Molecular genetic tests as a guide to surgical management of familial adenomatous polyposis. Lancet 348:433-435, 1996
53. Wu JS, Paul P, McGannon EA, et al: APC genotype, polyp number, and surgical options in familial adenomatous polyposis. Ann Surg 227:57-62, 1998
54. Bertario L, Russo A, Radice P, et al: Genotype and phenotype factors as determinants for rectal stump cancer in patients with familial adenomatous polyposis: Hereditary Colorectal Tumors Registry. Ann Surg 231:538-543, 2000
55. Rodriguez-Bigas MA, Chang GJ, Skibber JM: Surgical implications of colorectal cancer genetics. Surg Oncol Clin N Am 15:51-66, 2006
56. Giardiello FM, Trimbath JD: Peutz-Jeghers syndrome and management recommendations. Clin Gastroenterol Hepatol 4:408-415, 2006
57. Brosens LAA, van Hattem A, Hylind LM, et al: Risk of colorectal cancer in juvenile polyposis. Gut 56:965-967, 2007
58. Dunlop MG: Guidance on gastrointestinal surveillance for hereditary non-polyposis colorectal cancer, familial adenomatous polyposis, juvenile polyposis, and Peutz-Jeghers syndrome. Gut 51:V21-V27, 2002 (suppl V)
59. de Vos tot Nederveen Cappel WH, Buskens E, van Duijvendijk P, et al: Decision analysis in the surgical treatment of colorectal cancer due to a mismatch repair gene defect. Gut 52:1752-1755, 2003
60. 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 24:4642-4660, 2006
61. Lynch HT: Family Information Service and hereditary cancer. Cancer 91:625-628, 2001
62. Ramsey SD, Burke W, Clarke L: An economic viewpoint on alternative strategies for identifying persons with hereditary nonpolyposis colorectal cancer. Genet Med 5:353-363, 2003
63. Ramsey SD: Screening for the Lynch syndrome. N Engl J Med 353:524-525, 2005