The germline MLH1 K618A variant and susceptibility to lynch syndrome-associated tumors

Journal of Molecular Diagnostics

Volumn 14, Issue 3, 2012, Pages 264-273

  Medeiros, Fabiola ^a   Lindor, Noralane M ^a   Couch, Fergus J ^a   Highsmith, W Edward ^a  

^a MAYO CLINIC   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN MLH1;

ADULT; ARTICLE; CANCER SUSCEPTIBILITY; CONTROLLED STUDY; FAMILY; FEMALE; GENE FREQUENCY; GENE MUTATION; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GENOTYPE; HEREDITARY NONPOLYPOSIS COLORECTAL CANCER; HUMAN; MALE; MEDICAL LITERATURE; RISK;

EID: 84859582906     PISSN: 15251578     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jmoldx.2012.01.006     Document Type: Article

References (57)

1. J.M. Cunningham, C.Y. Kim, E.R. Christensen, D.J. Tester, Y. Parc, L.J. Burgart, K.C. Halling, S.K. McDonnell, D.J. Schaid, C. Walsh Vockley, V. Kubly, H. Nelson, V.V. Michels, S.N. Thibodeau The frequency of hereditary defective mismatch repair in a prospective series of unselected colorectal carcinomas [Erratum appeared in Am J Hum Genet 2001, 69:1160] Am J Hum Genet 69 2001 780 790
2. H. Hampel, W. Frankel, E. Martin, M. Arnold, K. Khanduja, P. Kuebler, H. Nakagawa, K. Sotamaa, T.W. Prior, J. Westman, J. Panescu, D. Fix, J. Lockman, I. Comeras, A. de la Chapelle Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer) N Engl J Med 352 2005 1851 1860
3. R. Salovaara, A. Loukola, P. Kristo, H. Kriinen, H. Ahtola, M. Eskelinen, N. Hrknen, R. Julkunen, E. Kangas, S. Ojala, J. Tulikoura, E. Valkamo, H. Jrvinen, J.P. Mecklin, L. Aaltonen, A. de la Chapelle Population-based molecular detection of hereditary nonpolyposis colorectal cancer [Erratum appeared in J Clin Oncol 2000, 18:3456] J Clin Oncol 18 2000 2193 2200
4. H. Hampel, W. Frankel, J. Panescu, J. Lockman, K. Sotamaa, D. Fix, I. Comeras, J. La Jeunesse, H. Nakagawa, J.A. Westman, T.W. Prior, M. Clendenning, P. Penzone, J. Lombardi, P. Dunn, D.E. Cohn, L. Copeland, L. Eaton, J. Fowler, G. Lewandowski, L. Vaccarello, J. Bell, G. Reid, A. DE la Chapelle Screening for Lynch syndrome (hereditary nonpolyposis colorectal cancer) among endometrial cancer patients Cancer Res 66 2006 7810 7817
5. P. Peltomki, H. Vasen Mutations associated with HNPCC predisposition - Update of ICG-HNPCC/INSiGHT mutation database Dis Markers 20 2004 269 276
6. S.N. Thibodeau, A.J. French, J.M. Cunningham, D.J. Tester, L.J. Burgart, P.C. Roche, S.K. McDonnell, D.J. Schaid, C.W. Vockley, V.V. Michels, G.H. Farr Jr, M.J. O'Connell Microsatellite instability in colorectal cancer: different mutator phenotypes and the principal involvement of hMLH1 Cancer Res 58 1998 1713 1718
7. P. Tannergrd, J.R. Lipford, R. Kolodner, J.E. Frdin, M. Nordenskjld, A. Lindblom Mutation screening in the hMLH1 gene in Swedish hereditary nonpolyposis colon cancer families Cancer Res 55 1995 6092 6096
8. J. Ou, R.C. Niessen, J. Vonk, H. Westers, R.M. Hofstra, R.H. Sijmons A database to support the interpretation of human mismatch repair gene variants Hum Mutat 29 2008 1337 1341
9. A. Ganguly, M. Rock, D. Prockop Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DNA fragments: Evidence for solvent-induced bends in DNA heteroduplexes [Erratum appeared in Proc Natl Acad Sci USA 1994 May 24;91(11):5217] Proc Natl Acad Sci USA 90 1993 10325 10329
10. L.M. Baudhuin, L.J. Burgart, O. Leontovich, S.N. Thibodeau Use of microsatellite instability and immunohistochemistry testing for the identification of individuals at risk for Lynch syndrome Fam Cancer 4 2005 255 265
11. K.M. Murphy, S. Zhang, T. Geiger, M.J. Hafez, J. Bacher, K.D. Berg, J.R. Eshleman Comparison of the microsatellite instability analysis system and the Bethesda panel for the determination of microsatellite instability in colorectal cancers J Mol Diagn 8 2006 305 311
12. J.L. Mauillon, P. Michel, J.M. Limacher, J.B. Latouche, P. Dechelotte, F. Charbonnier, C. Martin, V. Moreau, J. Metayer, B. Paillot, T. Frebourt Identification of novel germline hMLH1 mutations including a 22 kb Alu-mediated deletion in patients with familial colorectal cancer Cancer Res 56 1996 5728 5733
13. T.K. Weber, W. Conlon, N.J. Petrelli, M. Rodriguez-Bigas, B. Keitz, J. Pazik, C. Farrell, L. O'Malley, M. Oshalim, M. Abdo, G. Anderson, D. Stoler, D. Yandell Genomic DNA-based hMSH2 and hMLH1 mutation screening in 32 Eastern United States hereditary nonpolyposis colorectal cancer pedigrees Cancer Res 57 1997 3798 3803
14. J. Wijnen, P.M. Khan, H. Vasen, H. van der Klift, A. Mulder, I. van Leeuwen-Cornelisse, B. Bakker, M. Losekoot, P. Møller, R. Fodde Hereditary nonpolyposis colorectal cancer families not complying with the Amsterdam criteria show extremely low frequency of mismatch-repair-gene mutations Am J Hum Genet 61 1997 329 335
15. S. Wahlberg, T. Liu, P. Lindblom, A. Lindblom Various mutation screening techniques in the DNA mismatch repair genes hMSH2 and hMLH1 Genet Test 3 1999 259 264
16. S. Syngal, E.A. Fox, C. Eng, R.D. Kolodner, J.E. Garber Sensitivity and specificity of clinical criteria for hereditary non-polyposis colorectal cancer associated mutations in MSH2 and MLH1 J Med Genet 37 2000 641 645
17. P. Fidalgo, M.R. Almeida, S. West, C. Gaspar, L. Maia, J. Wignen, C. Albuquerque, A. Curtis, M. Cravo, R. Fodde, C.N. Leitao, J. Burn Detection of mutations in mismatch repair genes in Portuguese families with hereditary non-polyposis colorectal cancer (HNPCC) by a multi-method approach Eur J Hum Genet 8 2000 49 53
18. R.J. Scott, M. McPhillips, C.J. Meldrum, P.E. Fitzgerald, K. Adams, A. Spigelman, D. du Sart, K. Tucker, J. Kirk Hereditary nonpolyposis colorectal cancer in 95 families: differences and similarities between mutation-positive and mutation-negative kindreds [Erratum appeared in Am J Hum Genet 2001 Feb;68(2):557] Am J Hum Genet 68 2001 118 127
19. S. Salahshor, K. Koelble, C. Rubio, A. Lindblom Microsatellite instability and hMLH1 and hMSH2 expression analysis in familial and sporadic colorectal cancer Lab Invest 81 2001 535 541
20. Y. Mller-Koch, R. Kopp, P. Lohse, G. Baretton, A. Stoetzer, D. Aust, J. Daum, B. Kerker, M. Gross, W. Dietmeier, E. Holinski-Feder Sixteen rare sequence variants of the hMLH1 and hMSH2 genes found in a cohort of 254 suspected HNPCC (hereditary non-polyposis colorectal cancer) patients: mutations or polymorphisms? Eur J Med Res 6 2001 473 482
21. J.J. Gille, F.B. Hogervorst, G. Pals, J.T. Wignen, R.J. van Schooten, C.J. Dommering, G.A. Meijer, M.E. Craanen, P.M. Nederlof, D. de Jong, C.J. McElgunn, J.P. Schouten, F.H. Menko Genomic deletions of MSH2 and MLH1 in colorectal cancer families detected by a novel mutation detection approach Br J Cancer 87 2002 892 897
22. T. Caldes, J. Godino, M. de la Hoya, I. Garcia Carbonero, P. Perez Segura, C. Eng, M. Benito, E. Diaz-Rubio Prevalence of germline mutations of MLH1 and MSH2 in hereditary nonpolyposis colorectal cancer families from Spain Int J Cancer 98 2002 774 779
23. M. Scartozzi, F. Bianchi, S. Rosati, E. Galizia, A. Antolini, C. Loretelli, A. Piga, I. Bearzi, R. Cellerino, E. Porfiri Mutations of hMLH1 and hMSH2 in patients with suspected hereditary nonpolyposis colorectal cancer: correlation with microsatellite instability and abnormalities of mismatch repair protein expression J Clin Oncol 20 2002 1203 1208
24. R. Ward, C. Meldrum, R. Williams, E. Mokany, R. Scott, J. Turner, N. Hawkins, B. Burgess, C. Groombridge, A. Spigelman Impact of microsatellite testing and mismatch repair protein expression on the clinical interpretation of genetic testing in hereditary non-polyposis colorectal cancer J Cancer Res Clin Oncol 128 2002 403 411
25. T. Caldés, J. Godino, A. Sanchez, C. Corbacho, M. de la Hoya, J. Lopez Asenjo, C. Saez, J. Sanz, M. Benito, S. Ramon y Cajal, E. Diaz-Rubio Immunohistochemistry and microsatellite instability testing for selecting MLH1, MSH2, and MSH6 mutation carriers in hereditary non-polyposis colorectal cancer Oncol Rep 12 2004 621 629
26. B. Wolf, S. Henglmueller, E. Janschek, D. Ilencikova, C. Ludwig-Papst, M. Bergmann, C. Mannhalter, F. Wrba, J. Karner-Hanusch Spectrum of germ-line MLH1 and MSH2 mutations in Austrian patients with hereditary nonpolyposis colorectal cancer Wien Klin Wochenschr 117 2005 269 277
27. M. Hegde, M. Blazo, B. Chong, T.W. Prior, C. Richards Assay validation for identification of hereditary nonpolyposis colon cancer-causing mutations in mismatch repair genes MLH1, MSH2, and MSH6 J Mol Diagn 7 2005 525 534
28. L. Belvederesi, F. Bianchi, C. Loretelli, D. Gagliardini, E. Galizia, R. Bracci, S. Rosati, I. Bearzi, A. Viel, R. Cellerino, E. Porfiri Assessing the pathogenicity of MLH1 missense mutations in patients with suspected hereditary nonpolyposis colorectal cancer: correlation with clinical, genetic and functional features Eur J Hum Genet 14 2006 853 859
29. F. Bianchi, E. Galizia, R. Bracci, L. Belvederesi, R. Catalani, C. Loretelli, G. Giorgetti, C. Ferretti, I. Bearzi, E. Porfiri, R. Cellerino Effectiveness of the CRCAPRO program in identifying patients suspected for HNPCC Clin Genet 71 2007 158 164
30. A. Bellacosa, M. Genuardi, M. Anti, A. Viel, P. de Leon Hereditary nonpolyposis colorectal cancer: review of clinical, molecular genetics, and counseling aspects Am J Med Genet 62 1996 353 364
31. P. Benatti, R. Sassatelli, L. Roncucci, M. Pedroni, R. Fante, C. Di Gregorio Tumour spectrum in hereditary non-polyposis colorectal cancer (HNPCC) and in families with "suspected HNPCC" A population-based study in northern Italy. Colorectal Cancer Study Group Int J Cancer 54 1993 371 377
32. M. Rodriguez-Bigas, C. Boland, S. Hamilton, D. Hensom, J. Jass, P. Khan, H. Lunch, M. Perucho, T. Smyrk, L. Sobin, S. Srivastava A National Cancer Institute Workshop on Hereditary Nonpolyposis Colorectal Cancer Syndrome J Natl Cancer Inst 89 1997 1758 1762
33. H. Vasen, J. Mecklin, P. Meera Khan, H. Lynch The International Collaborative Group on hereditary nonpolyposis colorectal cancer (ICG-HNPCC) Dis Col Rectum 34 1991 424 425
34. H. Vasen, P. Watson, J. Mecklin, H. Lynch New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative Group on HNPCC Gastroenterology 116 1999 1453 1456
35. S.M. Farrington, J. Lin-Goerke, J. Ling, Y. Wang, J.D. Burczak, D.J. Robbins, M.G. Dunlop Systematic analysis of hMSH2 and hMLH1 in young colon cancer patients and controls Am J Hum Genet 63 1998 749 759
36. T. Liu, P. Tannergrd, P. Hackman, C. Rubio, U. Kressner, G. Lindmark, D. Hellgren, B. Lambert, A. Lindblom Missense mutations in hMLH1 associated with colorectal cancer Hum Genet 105 1999 437 441
37. W.S. Samowitz, K. Curtin, H.H. Lin, M.A. Robertson, D. Schaffer, M. Nichols, K. Gruenthal, M.F. Leppert, M.L. Slattery The colon cancer burden of genetically defined hereditary nonpolyposis colon cancer Gastroenterology 121 2001 830 838
38. P. Hudler, K. Vouk, M. Liovic, S. Repse, R. Juvan, R. Komel Mutations in the hMLH1 gene in Slovenian patients with gastric carcinoma Clin Genet 65 2004 405 411
39. N.S. Fearnhead, J.L. Wilding, B. Winney, S. Tonks, S. Bartlett, D.C. Bicknell, I.P. Tomlinson, N.J. Mortensen, W.F. Bodmer Multiple rare variants in different genes account for multifactorial inherited susceptibility to colorectal adenomas Proc Natl Acad Sci USA 101 2004 15992 15997
40. V. Piol, A. Castells, M. Andreu, S. Castellv-Bel, C. Alenda, X. Llor, R.M. Xicola, F. Rodrguez-Moranta, A. Pay, R. Jover, X. Bessa Gastrointestinal Oncology Group of the Spanish Gastroenterological Association Accuracy of revised Bethesda guidelines, microsatellite instability, and immunohistochemistry for the identification of patients with hereditary nonpolyposis colorectal cancer JAMA 293 2005 1986 1994
41. M.F. Blasi, I. Ventura, G. Aquilina, P. Degan, L. Bertario, C. Bassi, P. Radice, M. Bignami A human cell-based assay to evaluate the effects of alterations in the MLH1 mismatch repair gene Cancer Res 66 2006 9036 9044
42. R.A. Barnetson, N. Cartwright, A. van Vliet, N. Haq, K. Drew, S. Farrington, N. Williams, J. Warner, H. Campbell, M.E. Porteous, M.G. Dunlop Classification of ambiguous mutations in DNA mismatch repair genes identified in a population-based study of colorectal cancer Hum Mutat 29 2008 367 374
43. S. Guerrette, S. Acharya, R. Fishel The interaction of the human MutL homologues in hereditary nonpolyposis colon cancer J Biol Chem 274 1999 6336 6341
44. E. Kondo, H. Suzuki, A. Horii, S. Fukushige A yeast two-hybrid assay provides a simple way to evaluate the vast majority of hMLH1 germ-line mutations Cancer Res 63 2003 3302 3308
45. T.E. Raevaara, M.K. Korhonen, H. Lohi, H. Hampel, E. Lynch, K.E. Lnnqvist, E. Holinski-Feder, C. Sutter, W. McKinnon, S. Duraisamy, A.M. Gerdes, P. Peltomki, M. Kohonen-Corish, E. Mangold, F. MacRae, M. Greenblatt, A. de la Chapelle, M. NystrM Functional significance and clinical phenotype of nontruncating mismatch repair variants of MLH1 Gastroenterology 129 2005 537 549
46. J. Kosinski, I. Hinrichsen, J.M. Bujnicki, P. Friedhoff, G. Plotz Identification of Lynch syndrome mutations in the MLH1-PMS2 interface that disturb dimerization and mismatch repair Hum Mutat 31 2010 975 982
47. J.J. Wanat, N. Singh, E. Alani The effect of genetic background on the function of Saccharomyces cerevisiae mlh1 alleles that correspond to HNPCC missense mutations Hum Mol Genet 16 2007 445 452
48. S. Perera, B. Bapat The MLH1 variants p.Arg265Cys and p.Lys618Ala affect protein stability while p.Leu749Gln affects heterodimer formation Hum Mutat 29 2008 332
49. S. Perera, B. Li, S. Tsitsikotas, L. Ramyar, A. Pollett, K. Semotiuk, B. Bapat A novel and rapid method of determining the effect of unclassified MLH1 genetic variants on differential allelic expression J Mol Diagn 12 2010 757 764
50. P.A. Chan, S. Duraisamy, P.J. Miller, J.A. Newell, C. McBride, J.P. Bond, T. Raevaara, S. Ollila, M. Nystrm, A.J. Grimm, J. Christodoulou, W.S. Oetting, M.S. Greenblatt Interpreting missense variants: comparing computational methods in human disease genes CDKN2A, MLH1, MSH2, MECP2, and tyrosinase (TYR) Hum Mutat 28 2007 683 693
51. E.A. Stone, A. Sidow Physicochemical constraint violation by missense substitutions mediates impairment of protein function and disease severity Genome Res 15 2005 978 986
52. E.C. Chao, J.L. Velasquez, M.S. Witherspoon, L.S. Rozek, D. Peel, P. Ng, S.B. Gruber, P. Watson, G. Rennert, H. Anton-Culver, H. Lynch, S.M. Lipkin Accurate classification of MLH1/MSH2 missense variants with multivariate analysis of protein polymorphisms-mismatch repair (MAPP-MMR) Hum Mutat 29 2008 852 860
53. N.M. Lindor, G.M. Petersen, D.W. Hadley, A.Y. Kinney, S. Miesfeldt, K. Lu, P. Lynch, W. Burke, N. Press Recommendations for the care of individuals with an inherited predisposition to Lynch syndrome: a systematic review JAMA 296 2006 1507 1517
54. H.F. Vasen, G. Mslein, A. Alonso, I. Bernstein, L. Bertario, I. Blanco, J. Burn, G. Capella, C. Engel, I. Frayling, W. Friedl, F.J. Hes, S. Hodgson, J.P. Mecklin, P. Møller, F. Nagengast, Y. Parc, L. Renkonen-Sinisalo, J.R. Sampson, A. Stormorken, J. Wijnen Guidelines for the clinical management of Lynch syndrome (hereditary non-polyposis cancer) J Med Genet 44 2007 353 362
55. K.E. Felton, D.M. Gilchrist, S.E. Andres Constitutive deficiency in DNA mismatch repair: is it time for Lynch III? Clin Genet 71 2007 499 500
56. S. Gargiulo, M. Torrini, S. Ollila, S. Nasti, L. Pastorino, R. Cusano, L. Bonelli, L. Battistuzzi, L. Mastracci, W. Bruno, V. Savarino, S. Sciallero, G. Borgonovo, M. Nystrom, G. Bianchi-Scarr, C. Mareni, P. Ghiorzo Germline MLH1 and MSH2 mutations in Italian pancreatic cancer patients with suspected Lynch syndrome Fam Cancer 8 2009 547 553
57. D.E. Goldgar, D.F. Easton, G.B. Byrnes, A.B. Spurdle, E.S. Iversen, M.S. Greenblatt IARC Unclassified Genetic Variants Working Group Genetic evidence and integration of various data sources for classifying uncertain variants into a single model Hum Mutat 29 2008 1265 1272