Comparison between universal molecular screening for Lynch syndrome and revised Bethesda guidelines in a large population-based cohort of patients with colorectal cancer

Gut

Volumn 61, Issue 6, 2012, Pages 865-872

  Pérez Carbonell, Lucía ^a   Ruiz Ponte, Clara ^b   Guarinos, Carla ^a   Alenda, Cristina ^a   Payá, Artemio ^a   Brea, Alejandro ^a,b   Egoavil, Cecilia M ^a,c   Castillejo, Adela ^c   Barberá, Victor M ^c   Bessa, Xavier ^d   Xicola, Rosa M ^e   Rodríguez Soler, María ^a   Sánchez Fortún, Cristina ^a   Acame, Nuria ^a   Castellví Bel, Sergi ^f   Piñol, Virgínia ^f   Balaguer, Francesc ^f   Bujanda, Luis ^g   De Castro, María Luisa ^h   Llor, Xavier ^e   Andreu, Montserrat ^d   Carracedo, Angel ^b   Soto, José Luis ^c   Castells, Antoni ^f   Jover, Rodrigo ^a   more..

^a HOSPITAL GENERAL UNIVERSITARIO DE ALICANTE   (Spain)

^b UNIVERSITY OF SANTIAGO DE COMPOSTELA   (Spain)

^c HOSPITAL GENERAL UNIVERSITARIO DE ELCHE   (Spain)

^d HOSPITAL DEL MAR   (Spain)

^e UNIVERSITY OF ILLINOIS   (United States)

^f UNIVERSITY OF BARCELONA   (Spain)

^g HOSPITAL DONOSTIA   (Spain)

^h Gastroenterology Department   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

MISMATCH REPAIR PROTEIN PMS2; PROTEIN MLH1; PROTEIN MSH2; PROTEIN MSH6;

ADULT; AGED; ARTICLE; CANCER PATIENT; CANCER SCREENING; COHORT ANALYSIS; COLORECTAL CANCER; COMPARATIVE EFFECTIVENESS; CONTROLLED STUDY; FEMALE; GENE EXPRESSION; GENE MUTATION; GENETIC ANALYSIS; GENETIC SCREENING; GERM LINE; HEREDITARY NONPOLYPOSIS COLORECTAL CANCER; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; MAJOR CLINICAL STUDY; MALE; MICROSATELLITE INSTABILITY; MISMATCH REPAIR; MLH1 GENE; MSH2 GENE; ONCOGENE; OUTCOME ASSESSMENT; POPULATION BASED CASE CONTROL STUDY; PRACTICE GUIDELINE; PRIORITY JOURNAL; SENSITIVITY AND SPECIFICITY;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ADULT; AGED; AGED, 80 AND OVER; COLORECTAL NEOPLASMS; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; DNA METHYLATION; DNA MISMATCH REPAIR; FEMALE; GENETIC TESTING; GERM-LINE MUTATION; HETEROZYGOTE DETECTION; HUMANS; IMMUNOHISTOCHEMISTRY; MALE; MICROSATELLITE INSTABILITY; MIDDLE AGED; MUTS HOMOLOG 2 PROTEIN; NUCLEAR PROTEINS; PRACTICE GUIDELINES AS TOPIC;

EID: 84860555035     PISSN: 00175749     EISSN: 14683288     Source Type: Journal    
DOI: 10.1136/gutjnl-2011-300041     Document Type: Article

References (56)

1. Rustgi AK. The genetics of hereditary colon cancer. Genes Dev 2007;21:2525-38. (Pubitemid 47607664)
2. Ionov Y, Peinado MA, Malkhosyan S, et al. Ubiquitous somatic mutations in simple repeated sequences reveal a new mechanism for colonic carcinogenesis. Nature 1993;363:558-61. (Pubitemid 23186645)
3. Boland CR, Goel A. Microsatellite instability in colorectal cancer. Gastroenterology 2010;138:2073-87.
4. Jarvinen HJ, Mecklin JP, Sistonen P. Screening reduces colorectal cancer rate in families with hereditary nonpolyposis colorectal cancer. Gastroenterology 1995;108:1405-11.
5. 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)
6. Jover R, Paya A, Alenda C, et al. Defective mismatch-repair colorectal cancer: clinicopathologic characteristics and usefulness of immunohistochemical analysis for diagnosis. Am J Clin Pathol 2004;122:389-94. (Pubitemid 39145544)
7. Pinol 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 2005;293:1986-94. (Pubitemid 40570892)
8. Wheeler JM, Bodmer WF, Mortensen NJ. DNA mismatch repair genes and colorectal cancer. Gut 2000;47:148-53. (Pubitemid 30430425)
9. Perez-Carbonell L, Alenda C, Paya A, et al. Methylation analysis of MLH1 improves the selection of patients for genetic testing in Lynch syndrome. J Mol Diagn 2010;12:498-504.
10. Pinol V, Andreu M, Castells A, et al. Frequency of hereditary non-polyposis colorectal cancer and other colorectal cancer familial forms in Spain: a multicentre, prospective, nationwide study. Eur J Gastroenterol Hepatol 2004;16:39-45. (Pubitemid 39043701)
11. Abuli A, Bessa X, Gonzalez JR, et al. Susceptibility genetic variants associated with colorectal cancer risk correlate with cancer phenotype. Gastroenterology 2010;139:788-96, 796.e1-6.
12. Goel A, Xicola RM, Nguyen TP, et al. Aberrant DNA methylation in hereditary nonpolyposis colorectal cancer without mismatch repair deficiency. Gastroenterology 2010;138:1854-62.
13. Xicola RM, Llor X, Pons E, et al. Performance of different microsatellite marker panels for detection of mismatch repair-deficient colorectal tumors. J Natl Cancer Inst 2007;99:244-52.
14. Gylling A, Abdel-Rahman WM, Juhola M, et al. Is gastric cancer part of the tumour spectrum of hereditary non-polyposis colorectal cancer? A molecular genetic study. Gut 2007;56:926-33. (Pubitemid 46999075)
15. Joensuu EI, Abdel-Rahman WM, Ollikainen M, et al. Epigenetic signatures of familial cancer are characteristic of tumor type and family category. Cancer Res 2008;68:4597-605.
16. Ou J, Niessen RC, Vonk J, et al. A database to support the interpretation of human mismatch repair gene variants. Hum Mutat 2008;29:1337-41.
17. 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.
18. Hampel H, Frankel WL, Martin E, et al. Feasibility of screening for Lynch syndrome among patients with colorectal cancer. J Clin Oncol 2008;26:5783-8.
19. Mvundura M, Grosse SD, Hampel H, et al. The cost-effectiveness of genetic testing strategies for Lynch syndrome among newly diagnosed patients with colorectal cancer. Genet Med 2010;12:93-104.
20. Boland CR, Shike M. Report from the Jerusalem workshop on Lynch syndrome-hereditary nonpolyposis colorectal cancer. Gastroenterology 2010;138:2197.e1-7.
21. Percesepe A, Borghi F, Menigatti M, et al. Molecular screening for hereditary nonpolyposis colorectal cancer: a prospective, population-based study. J Clin Oncol 2001;19:3944-50. (Pubitemid 32912021)
22. Julie C, Tresallet C, Brouquet A, et al. Identification in daily practice of patients with Lynch syndrome (hereditary nonpolyposis colorectal cancer): revised Bethesda guidelines-based approach versus molecular screening. Am J Gastroenterol 2008;103:2825-35.
23. Slattery ML, Curtin K, Anderson K, et al. Associations between cigarette smoking, lifestyle factors, and microsatellite instability in colon tumors. J Natl Cancer Inst 2000;92:1831-6.
24. Wu AH, Shibata D, Yu MC, et al. Dietary heterocyclic amines and microsatellite instability in colon adenocarcinomas. Carcinogenesis 2001;22:1681-4. (Pubitemid 32952147)
25. Slattery ML, Anderson K, Curtin K, et al. Dietary intake and microsatellite instability in colon tumors. Int J Cancer 2001;93:601-7. (Pubitemid 32701421)
26. Gupta S, Ashfaq R, Kapur P, et al. Microsatellite instability among individuals of Hispanic origin with colorectal cancer. Cancer 2010;116:4965-72.
27. Egoavil CM, Montenegro P, Soto JL, et al. Clinically important molecular features of Peruvian colorectal tumours: high prevalence of DNA mismatch repair deficiency and low incidence of KRAS mutations. Pathology 2011;43:228-33.
28. 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)
29. Salovaara R, Loukola A, Kristo P, et al. Population-based molecular detection of hereditary nonpolyposis colorectal cancer. J Clin Oncol 2000;18:2193-200. (Pubitemid 30350210)
30. Wijnen JT, Brohet RM, van Eijk R, et al. Chromosome 8q23.3 and 11q23.1 variants modify colorectal cancer risk in Lynch syndrome. Gastroenterology 2009;136:131-7.
31. Borras E, Pineda M, Blanco I, et al. MLH1 founder mutations with moderate penetrance in Spanish Lynch syndrome families. Cancer Res 2010;70:7379-91.
32. Medina-Arana V, Barrios Y, Fernandez-Peralta A, et al. New founding mutation in MSH2 associated with hereditary nonpolyposis colorectal cancer syndrome on the Island of Tenerife. Cancer Lett 2006;244:268-73. (Pubitemid 44485885)
33. Menendez M, Castellvi-Bel S, Pineda M, et al. Founder effect of a pathogenic MSH2 mutation identified in Spanish families with Lynch syndrome. Clin Genet 2010;78:186-90.
34. Singh H, Schiesser R, Anand G, et al. Underdiagnosis of Lynch syndrome involves more than family history criteria. Clin Gastroenterol Hepatol 2010;8:523-9.
35. Grover S, Stoffel EM, Bussone L, et al. Physician assessment of family cancer history and referral for genetic evaluation in colorectal cancer patients. Clin Gastroenterol Hepatol 2004;2:813-19. (Pubitemid 39200720)
36. van Dijk DA, Oostindier MJ, Kloosterman-Boele WM, et al. Family history is neglected in the work-up of patients with colorectal cancer: a quality assessment using cancer registry data. Fam Cancer 2007;6:131-4. (Pubitemid 46295308)
37. van Lier MG, De Wilt JH, Wagemakers JJ, et al. Underutilization of microsatellite instability analysis in colorectal cancer patients at high risk for Lynch syndrome. Scand J Gastroenterol 2009;44:600-4.
38. Sanchez JA, Vogel JD, Kalady MF, et al. Identifying Lynch syndrome: we are all responsible. Dis Colon Rectum 2008;51:1750-6.
39. Trano G, Wasmuth HH, Sjursen W, et al. Awareness of heredity in colorectal cancer patients is insufficient among clinicians: a Norwegian population-based study. Colorectal Dis 2009;11:456-61.
40. 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;89:1758-62.
41. Balmana J, Stockwell DH, Steyerberg EW, et al. Prediction of MLH1 and MSH2 mutations in Lynch syndrome. JAMA 2006;296:1469-78. (Pubitemid 44465511)
42. 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 2006;354:2751-63. (Pubitemid 43974193)
43. Chen S, Wang W, Lee S, et al. Prediction of germline mutations and cancer risk in the Lynch syndrome. JAMA 2006;296:1479-87. (Pubitemid 44465512)
44. Jenkins MA, Hayashi S, O'Shea AM, et al. Pathology features in Bethesda guidelines predict colorectal cancer microsatellite instability: a population-based study. Gastroenterology 2007;133:48-56. (Pubitemid 47039240)
45. Balaguer F, Balmana J, Castellvi-Bel S, et al. Validation and extension of the PREMM1,2 model in a population-based cohort of colorectal cancer patients. Gastroenterology 2008;134:39-46.
46. Popat S, Hubner R, Houlston RS. Systematic review of microsatellite instability and colorectal cancer prognosis. J Clin Oncol 2005;23:609-18.
47. Carethers JM, Smith EJ, Behling CA, et al. Use of 5-fluorouracil and survival in patients with microsatellite-unstable colorectal cancer. Gastroenterology 2004;126:394-401.
48. Jover R, Zapater P, Castells A, et al. Mismatch repair status in the prediction of benefit from adjuvant fluorouracil chemotherapy in colorectal cancer. Gut 2006;55:848-55. (Pubitemid 43764557)
49. Jover R, Zapater P, Castells A, et al. The efficacy of adjuvant chemotherapy with 5-fluorouracil in colorectal cancer depends on the mismatch repair status. Eur J Cancer 2009;45:365-73.
50. 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)
51. Sargent DJ, Marsoni S, Monges G, et al. Defective mismatch repair as a predictive marker for lack of efficacy of fluorouracil-based adjuvant therapy in colon cancer. J Clin Oncol 2010;28:3219-26.
52. Jover R, Nguyen TP, Perez-Carbonell L, et al. 5-fluorouracil adjuvant chemotherapy does not increase survival in patients with CpG island methylator phenotype colorectal cancer. Gastroenterology 2011;140:1174-81.
53. Lynch HT, Boland CR, Rodriguez-Bigas MA, et al. Who should be sent for genetic testing in hereditary colorectal cancer syndromes? J Clin Oncol 2007;25:3534-42. (Pubitemid 47310892)
54. Guarinos C, Castillejo A, Barbera VM, et al. EPCAM germ line deletions as causes of Lynch syndrome in Spanish patients. J Mol Diagn 2010;12:765-70.
55. Kovacs ME, Papp J, Szentirmay Z, et al. Deletions removing the last exon of TACSTD1 constitute a distinct class of mutations predisposing to Lynch syndrome. Hum Mutat 2009;30:197-203.
56. Ligtenberg MJ, Kuiper RP, Chan TL, et al. Heritable somatic methylation and inactivation of MSH2 in families with Lynch syndrome due to deletion of the 3′ exons of TACSTD1. Nat Genet 2009;41:112-17.