Molecular biology from bench-to-bedside - Which colorectal cancer patients should be referred for genetic counselling and risk assessment

European Journal of Cancer

Volumn 46, Issue 10, 2010, Pages 1823-1828

  Jensen, Lars Henrik ^a   Dysager, Lars ^a   Lindebjerg, Jan ^a   Kølvrå, Steen ^a   Byriel, Lene ^a   Crüger, Dorthe Gylling ^a  

^a UNIVERSITY OF SOUTHERN DENMARK   (Denmark)

Author keywords

BRAF; Immunohistochemistry; Lynch syndrome; Mismatch repair deficiency; Promoter methylation; Screening

Indexed keywords

B RAF KINASE; FLUOROURACIL; MISMATCH REPAIR PROTEIN PMS2; PROTEIN MLH1; PROTEIN MSH2; PROTEIN MSH6; BRAF PROTEIN, HUMAN;

ADJUVANT THERAPY; ADOLESCENT; ADULT; AGED; ARTICLE; CANCER CLASSIFICATION; CANCER PATIENT; CANCER STAGING; CHILD; COLORECTAL CANCER; DNA METHYLATION; FEMALE; FOLLOW UP; GENE MUTATION; GENE SEQUENCE; GENETIC COUNSELING; HEREDITARY NONPOLYPOSIS COLORECTAL CANCER; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; MAJOR CLINICAL STUDY; MALE; MOLECULAR BIOLOGY; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN METHYLATION; RISK ASSESSMENT; SCHOOL CHILD; WILD TYPE; ADENOCARCINOMA; COLORECTAL NEOPLASMS; GENETICS; MICROSATELLITE INSTABILITY; MIDDLE AGED; MISMATCH REPAIR; PATIENT REFERRAL; PATIENT SELECTION; PROMOTER REGION; UTILIZATION; VERY ELDERLY;

ADENOCARCINOMA; ADULT; AGED; AGED, 80 AND OVER; COLORECTAL NEOPLASMS; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; DNA METHYLATION; DNA MISMATCH REPAIR; FEMALE; GENETIC COUNSELING; HUMANS; MALE; MICROSATELLITE INSTABILITY; MIDDLE AGED; PATIENT SELECTION; PROMOTER REGIONS, GENETIC; PROTO-ONCOGENE PROTEINS B-RAF; REFERRAL AND CONSULTATION; RISK ASSESSMENT;

EID: 77953292142     PISSN: 09598049     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejca.2010.03.016     Document Type: Article

References (30)

1. DeVita V.T., Lawrence T.S., and Rosenberg S.A. Cancer principles and practice of oncology. 8th ed. (2008), Lippincott Williams & Wilkins
2. Lynch H.T., and de la Chapelle A. Hereditary colorectal cancer. N Engl J Med 348 10 (2003) 919-932
3. Barrow E., Alduaij W., Robinson L., et al. Colorectal cancer in HNPCC: cumulative lifetime incidence, survival and tumour distribution. A report of 121 families with proven mutations. Clin Genet 74 3 (2008) 233-242
4. Jarvinen H.J., Aarnio M., Mustonen H., et al. Controlled 15-year trial on screening for colorectal cancer in families with hereditary non-polyposis colorectal cancer. Gastroenterology 118 5 (2000) 829-834
5. Vasen H.F., Mecklin J.P., Khan P.M., and Lynch H.T. The International Collaborative Group on Hereditary Non-polyposis Colorectal Cancer (ICG-HNPCC). Dis Colon Rectum 34 5 (1991) 424-425
6. Rodriguez-Bigas M.A., Boland C.R., Hamilton S.R., et al. A National Cancer Institute workshop on hereditary non-polyposis colorectal cancer syndrome: meeting highlights and Bethesda guidelines. J Natl Cancer Inst 89 23 (1997) 1758-1762
7. Vasen H.F., Watson P., Mecklin J.P., and Lynch H.T. New clinical criteria for hereditary non-polyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the international collaborative group on HNPCC. Gastroenterology 116 6 (1999) 1453-1456
8. Umar A., Boland C.R., Terdiman J.P., et al. Revised Bethesda Guidelines for hereditary non-polyposis colorectal cancer (Lynch syndrome) and microsatellite instability. J Natl Cancer Inst 96 4 (2004) 261-268
9. Trano G., Wasmuth H.H., Sjursen W., Hofsli E., and Vatten L.J. Awareness of heredity in colorectal cancer patients is insufficient among clinicians: a Norwegian population-based study. Colorectal Dis 11 5 (2009) 456-461
10. Bellis M.A., Hughes K., Hughes S., and Ashton J.R. Measuring paternal discrepancy and its public health consequences. J Epidemiol Commun Health 59 9 (2005) 749-754
11. Rex D.K., Johnson D.A., Anderson J.C., Schoenfeld P.S., Burke C.A., and Inadomi J.M. American college of gastroenterology guidelines for colorectal cancer screening 2008. Am J Gastroenterol 104 3 (2009) 739-750
12. Kane M.F., Loda M., Gaida G.M., 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 57 5 (1997) 808-811
13. Domingo E., Niessen R.C., 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 24 (2005) 3995-3998
14. Jensen L.H., Lindebjerg J., Byriel L., Kolvraa S., and Cruger D.G. Strategy in clinical practice for classification of unselected colorectal tumours based on mismatch repair deficiency. Colorectal Dis 10 5 (2008) 490-497
15. Nygren A.O., Ameziane N., Duarte H.M., et al. Methylation-specific MLPA (MS-MLPA): simultaneous detection of CpG methylation and copy number changes of up to 40 sequences. Nucleic Acids Res 33 14 (2005) e128
16. Capel E., Flejou J.F., and Hamelin R. Assessment of MLH1 promoter methylation in relation to gene expression requires specific analysis. Oncogene 26 54 (2007) 7596-7600
17. Weisenberger D.J., Campan M., Long T.I., et al. Analysis of repetitive element DNA methylation by methylight. Nucleic Acids Res 33 21 (2005) 6823-6836
18. Fiegl H., Gattringer C., Widschwendter A., et al. Methylated DNA collected by tampons - a new tool to detect endometrial cancer. Cancer Epidemiol Biomarkers Prev 13 5 (2004) 882-888
19. Chang D.K., Ricciardiello L., Goel A., Chang C.L., and Boland C.R. Steady-state regulation of the human DNA mismatch repair system. J Biol Chem 275 24 (2000) 18424-18431
20. Jensen L.H., Cruger D.C., Lindeberg J., Byriel L., Petersen G.B., and Jakobsen A. Laser microdissection and microsatellite analysis of colorectal adenocarcinomas. Anticancer Res 26 (2006) 2069-2074
21. Deng G., Chen A., Hong J., Chae H.S., and Kim Y.S. Methylation of CpG in a small region of the hMLH1 promoter invariably correlates with the absence of gene expression. Cancer Res 59 9 (1999) 2023-2029
22. Capel E., Flejou J.F., and Hamelin R. Assessment of MLH1 promoter methylation in relation to gene expression requires specific analysis. Oncogene June 4 (2007)
23. Bettstetter M., Dechant S., Ruemmele P., et al. Distinction of hereditary non-polyposis colorectal cancer and sporadic microsatellite-unstable colorectal cancer through quantification of MLH1 methylation by real-time PCR. Clin Cancer Res 13 11 (2007) 3221-3228
24. Alemayehu A., Sebova K., and Fridrichova I. Redundant DNA methylation in colorectal cancers of Lynch-syndrome patients. Genes Chromosomes Cancer 47 10 (2008) 906-914
25. Hampel H., Frankel W.L., Martin E., et al. Screening for the Lynch syndrome (hereditary non-polyposis colorectal cancer). N Engl J Med 352 18 (2005) 1851-1860
26. Hampel H., Frankel W.L., Martin E., et al. Feasibility of screening for Lynch syndrome among patients with colorectal cancer. J Clin Oncol 26 35 (2008) 5783-5788
27. Julie C., Tresallet C., Brouquet A., et al. Identification in daily practice of patients with Lynch syndrome (hereditary non-polyposis colorectal cancer): revised Bethesda guidelines-based approach versus molecular screening. Am J Gastroenterol 103 11 (2008) 2825-2835
28. Grover S., Stoffel E.M., Bussone L., Tschoegl E., and Syngal S. Physician assessment of family cancer history and referral for genetic evaluation in colorectal cancer patients. Clin Gastroenterol Hepatol 2 9 (2004) 813-819
29. Mitchell R.J., Brewster D., Campbell H., et al. Accuracy of reporting of family history of colorectal cancer. Gut 53 2 (2004) 291-295
30. Jahn S., Minai-Pour M.B., Speicher M.R., Reiner-Concin A., and Hoefler G. Comprehensive screening for Lynch syndrome: who can be the driving force in daily clinical practice?. J Clin Oncol 27 13 (2009) 2292