MLH1 promoter hypermethylation in the analytical algorithm of Lynch syndrome: A cost-effectiveness study

European Journal of Human Genetics

Volumn 20, Issue 7, 2012, Pages 762-768

  Gausachs, Mireia ^a   Mur, Pilar ^a   Corral, Julieta ^a   Pineda, Marta ^a   González, Sara ^a   Benito, Llcia ^a   Menéndez, Mireia ^a   Espins, Josep Alfons ^a   Brunet, Joan ^b   Iniesta, María Dolores ^d   Gruber, Stephen B ^c,d,e   Lázaro, Conxi ^a   Blanco, Ignacio ^a   Capellá, Gabriel ^a  

^a HOSPITAL UNIVERSITARI DE BELLVITGE   (Spain)

^b GIRONA BIOMEDICAL RESEARCH INSTITUTE IDIBGI   (Spain)

^c Department of Internal Medicine ^*  (United States)

^d UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

^e UNIVERSITY OF MICHIGAN SCHOOL OF PUBLIC HEALTH   (United States)

Author keywords

BRAF V600E mutation; cost effectiveness; Lyncg Syndrome; MLH1 promoter hypermethylation; MS MLPA

Indexed keywords

B RAF KINASE; B RAF KINASE V600E; MISMATCH REPAIR PROTEIN; PROTEIN MLH1; PROTEIN MSH2; PROTEIN MSH6; UNCLASSIFIED DRUG;

ALGORITHM; ARTICLE; COLORECTAL TUMOR; COST EFFECTIVENESS ANALYSIS; DIAGNOSTIC VALUE; FAMILY HISTORY; GENE MUTATION; HEREDITARY NONPOLYPOSIS COLORECTAL CANCER; MICROSATELLITE INSTABILITY; PRIORITY JOURNAL; PROTEIN EXPRESSION; SENSITIVITY ANALYSIS; SENSITIVITY AND SPECIFICITY;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ADULT; ALGORITHMS; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; COST-BENEFIT ANALYSIS; DNA METHYLATION; GENETIC TESTING; GERM-LINE MUTATION; HUMANS; LOSS OF HETEROZYGOSITY; MALE; MICROSATELLITE INSTABILITY; MUTATION; NUCLEAR PROTEINS; PEDIGREE; PROMOTER REGIONS, GENETIC; PROTO-ONCOGENE PROTEINS B-RAF; SENSITIVITY AND SPECIFICITY; SEQUENCE ANALYSIS, DNA; YOUNG ADULT;

EID: 84863716549     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2011.277     Document Type: Article

References (42)

1. Lynch HT, Krush AJ: Cancer family 'G' revisited: 1895-1970. Cancer 1971; 27: 1505-1511.
2. Mecklin JP, Jarvinen HJ: Tumor spectrum in cancer family syndrome (hereditary nonpolyposis colorectal cancer). Cancer 1991; 68: 1109-1112.
3. Marra G, Boland CR: Hereditary nonpolyposis colorectal cancer: the syndrome, the genes, and historical perspectives. J Natl Cancer Inst 1995; 87: 1114-1125.
4. Peltomaki P, Vasen HF: Mutations predisposing to hereditary nonpolyposis colorectal cancer: database and results of a collaborative study. The International Collaborative Group on Hereditary Nonpolyposis Colorectal Cancer. Gastroenterology 1997; 113: 1146-1158. (Pubitemid 27418968)
5. Wu Y, Berends MJ, Sijmons RH et al: A role for MLH3 in hereditary nonpolyposis colorectal cancer. Nat Genet 2001; 29: 137-138. (Pubitemid 32952647)
6. 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: 1481-1487. (Pubitemid 28226275)
7. Loukola A, EklinK, Laiho P et al: Microsatellite marker analysis in screening for hereditary nonpolyposis colorectal cancer (HNPCC). Cancer Res 2001; 61: 4545-4549. (Pubitemid 32685787)
8. 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.
9. Lindor NM, Burgart LJ, Leontovich O et al: Immunohistochemistry versus microsatellite instability testing in phenotyping colorectal tumors. J Clin Oncol 2002; 20: 1043-1048. (Pubitemid 34141849)
10. Deng G, Bell I, Crawley S et al: BRAF mutation is frequently present in sporadic colorectal cancer with methylated hMLH1, but not in hereditary nonpolyposis colorectal cancer. Clin Cancer Res 2004; 10: 191-195. (Pubitemid 38114179)
11. Domingo E, Laiho P, Ollikainen M et al: BRAF screening as a low-cost effective strategy for simplifying HNPCC genetic testing. J Med Genet 2004; 41: 664-668. (Pubitemid 39208606)
12. 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 2005; 24: 3995-3998. (Pubitemid 40896411)
13. Lubomierski N, Plotz G, Wormek M et al: BRAF mutations in colorectal carcinoma suggest two entities of microsatellite-unstable tumors. Cancer 2005; 104: 952-961. (Pubitemid 41170222)
14. McGivern A, Wynter CV, Whitehall VL 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. (Pubitemid 40645891)
15. Wang L, Cunningham JM, Winters JL et al: BRAF mutations in colon cancer are not likely attributable to defective DNA mismatch repair. Cancer Res 2003; 63: 5209-5212. (Pubitemid 37139829)
16. Bessa X, Balleste B, Andreu M et al: A prospective, multicenter, population-based study of BRAF mutational analysis for Lynch syndrome screening. Clin Gastroenterol Hepatol 2008; 6: 206-214.
17. Domingo E, Espin E, Armengol M et al: Activated BRAF targets proximal colon tumors with mismatch repair deficiency and MLH1 inactivation. Genes Chromosomes Cancer 2004; 39: 138-142. (Pubitemid 38056086)
18. 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: 2825-2835, quiz 2836.
19. Lagerstedt Robinson K, Liu T, Vandrovcova J et al: Lynch syndrome (hereditary nonpolyposis colorectal cancer) diagnostics. J Natl Cancer Inst 2007; 99: 291-299. (Pubitemid 47073492)
20. Loughrey MB, Waring PM, Tan A et al: Incorporation of somatic BRAF mutation testing into an algorithm for the investigation of hereditary non-polyposis colorectal cancer. Fam Cancer 2007; 6: 301-310. (Pubitemid 47175009)
21. 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.
22. Walsh MD, Buchanan DD, Walters R et al: Analysis of families with Lynch syndrome complicated by advanced serrated neoplasia: the importance of pathology review and pedigree analysis. Fam Cancer 2009; 8: 313-323.
23. Bettstetter M, Dechant S, Ruemmele P et al: Distinction of hereditary nonpolyposis colorectal cancer and sporadic microsatellite-unstable colorectal cancer through quantification of MLH1 methylation by real-time PCR. Clin Cancer Res 2007; 13: 3221-3228. (Pubitemid 46944905)
24. Cunningham JM, Christensen ER, Tester DJ et al: Hypermethylation of the hMLH1 promoter in colon cancer with microsatellite instability. Cancer Res 1998; 58: 3455-3460. (Pubitemid 28371090)
25. Kuismanen SA, Holmberg MT, Salovaara R, de la Chapelle A, Peltomaki P: Genetic and epigenetic modification of MLH1 accounts for a major share of microsatellite-unstable colorectal cancers. Am J Pathol 2000; 156: 1773-1779. (Pubitemid 30646714)
26. Alemayehu A, Sebova K, Fridrichova I: Redundant DNA methylation in colorectal cancers of Lynch-syndrome patients. Genes Chromosomes Cancer 2008; 47: 906-914.
27. Nagasaka T, Sasamoto H, Notohara K et al: Colorectal cancer with mutation in BRAF, KRAS, and wild-type with respect to both oncogenes showing different patterns of DNA methylation. J Clin Oncol 2004; 22: 4584-4594. (Pubitemid 41185126)
28. Rahner N, Friedrichs N, Steinke V et al: Coexisting somatic promoter hypermethylation and pathogenic MLH1 germline mutation in Lynch syndrome. J Pathol 2008; 214: 10-16.
29. Bonis PA, Trikalinos TA, Chung M et al: Hereditary nonpolyposis colorectal cancer: diagnostic strategies and their implications. Evid Rep Technol Assess (Full Rep) 2007; 1-180.
30. Recommendations from the EGAPP Working Group: genetic testing strategies in newly diagnosed individuals with colorectal cancer aimed at reducing morbidity and mortality from Lynch syndrome in relatives. Genet Med 2009; 11: 35-41.
31. Motulsky AG: Screening for genetic diseases. N Engl J Med 1997; 336: 1314-1316. (Pubitemid 27187788)
32. Landi S, Moreno V, Gioia-Patricola L et al: Association of common polymorphisms in inflammatory genes interleukin (IL)6, IL8, tumor necrosis factor alpha, NFKB1, and peroxisome proliferator-activated receptor gamma with colorectal cancer. Cancer Res 2003; 63: 3560-3566. (Pubitemid 36793036)
33. Berkhout M, Nagtegaal ID, Cornelissen SJ et al: Chromosomal and methylation alterations in sporadic and familial adenomatous polyposis-related duodenal carcinomas. Mod Pathol 2007; 20: 1253-1262. (Pubitemid 350126848)
34. Jeuken JW, Cornelissen SJ, Vriezen M et al: MS-MLPA: an attractive alternative laboratory assay for robust, reliable, and semiquantitative detection of MGMT promoter hypermethylation in gliomas. Lab Invest 2007; 87: 1055-1065. (Pubitemid 47429190)
35. Azuara D, Rodriguez-Moranta F, de Oca J et al: Novel methylation panel for the early detection of colorectal tumors in stool DNA. Clin Colorectal Cancer 2010; 9: 168-176.
36. Deng G, Chen A, Hong J, Chae HS, Kim YS: Methylation of CpG in a small region of the hMLH1 promoter invariably correlates with the absence of gene expression. Cancer Res 1999; 59: 2029-2033. (Pubitemid 29217657)
37. Borras E, Pineda M, Blanco I et al: MLH1 founder mutations with moderate penetrance in Spanish Lynch syndrome families. Cancer Res 2010; 70: 7379-7391.
38. Rozek LS, Herron CM, Greenson JK et al: Smoking, gender, and ethnicity predict somatic BRAF mutations in colorectal cancer. Cancer Epidemiol Biomarkers Prev 2010; 19: 838-843.
39. Bouzourene H, Hutter P, Losi L, Martin P, Benhattar J: Selection of patients with germline MLH1 mutated Lynch syndrome by determination of MLH1 methylation and BRAF mutation. Fam Cancer 2010; 9: 167-172.
40. Hitchins MP, Ward RL: Constitutional (germline) MLH1 epimutation as an aetiological mechanism for hereditary non-polyposis colorectal cancer. J Med Genet 2009; 46: 793-802.
41. Dong SM, Lee EJ, Jeon ES, Park CK, Kim KM: Progressive methylation during the serrated neoplasia pathway of the colorectum. Mod Pathol 2005; 18: 170-178. (Pubitemid 40188623)
42. Kambara T, Simms LA, Whitehall VL et al: BRAF mutation is associated with DNA methyation in serrated polyps and cancers of the colorectum. Gut 2004; 53: 1137-1144. (Pubitemid 38961968)