MSH6 and PMS2 mutation positive Australian Lynch syndrome families: Novel mutations, cancer risk and age of diagnosis of colorectal cancer

Hereditary Cancer in Clinical Practice

Volumn 8, Issue 1, 2010, Pages

  Talseth Palmer, Bente A ^a,b   McPhillips, Mary ^c   Groombridge, Claire ^d   Spigelman, Allan ^e   Scott, Rodney J ^a,b,c  

^a UNIVERSITY OF NEWCASTLE   (Australia)

^b JOHN HUNTER HOSPITAL   (Australia)

^c JOHN HUNTER HOSPITAL   (Australia)

^d Hunter Family Cancer Service   (Australia)

^e UNIVERSITY OF NEW SOUTH WALES   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

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

ARTICLE; AUSTRALIA; CANCER INCIDENCE; CANCER RISK; COHORT ANALYSIS; COLORECTAL CANCER; ENDOMETRIUM CANCER; FEMALE; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HEREDITARY NONPOLYPOSIS COLORECTAL CANCER; HUMAN; MAJOR CLINICAL STUDY; MALE; ONSET AGE; SEX DIFFERENCE;

EID: 79551563973     PISSN: 17312302     EISSN: 18974287     Source Type: Journal    
DOI: 10.1186/1897-4287-8-5     Document Type: Article

References (46)

1. Lynch HT, Boland CR, Gong G, Shaw TG, Lynch PM, Fodde R, Lynch JF, de la Chapelle A. Phenotypic and genotypic heterogeneity in the Lynch syndrome: diagnostic, surveillance and management implications. Eur J Hum Genet 2006, 14:390-402. 10.1038/sj.ejhg.5201584, 16479259.
2. Lawes DA, SenGupta SB, Boulos PB. Pathogenesis and clinical management of hereditary non-polyposis colorectal cancer. Br J Surg 2002, 89:1357-1369. 10.1046/j.1365-2168.2002.02290.x, 12390374.
3. Lu K. Endometrial cancer in women with HNPCC. Int J Gynecol Cancer 2005, 15:400-401.
4. Bronner CE, Baker SM, Morrison PT, Warren G, Smith LG, Lescoe MK, Kane M, Earabino C, Lipford J, Lindblom A. Mutation in the DNA mismatch repair gene homologue hMLH1 is associated with hereditary non-polyposis colon cancer. Nature 1994, 368:258-261. 10.1038/368258a0, 8145827.
5. Fishel R, Lescoe MK, Rao MR, Copeland NG, Jenkins NA, Garber J, Kane M, Kolodner R. The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer. Cell 1993, 75:1027-1038. 10.1016/0092-8674(93)90546-3, 8252616.
6. Miyaki M, Konishi M, Tanaka K, Kikuchi-Yanoshita R, Muraoka M, Yasuno M, Igari T, Koike M, Chiba M, Mori T. Germline mutation of MSH6 as the cause of hereditary nonpolyposis colorectal cancer. Nat Genet 1997, 17:271-272. 10.1038/ng1197-271, 9354786.
7. Nicolaides NC, Papadopoulos N, Liu B, Wei YF, Carter KC, Ruben SM, Rosen CA, Haseltine WA, Fleischmann RD, Fraser CM, et al. Mutations of two PMS homologues in hereditary nonpolyposis colon cancer. Nature 1994, 371:75-80. 10.1038/371075a0, 8072530.
8. Jiricny J. The multifaceted mismatch-repair system. Nat Rev Mol Cell Biol 2006, 7:335-346. 10.1038/nrm1907, 16612326.
9. Peltomaki P. Role of DNA mismatch repair defects in the pathogenesis of human cancer. J Clin Oncol 2003, 21:1174-1179. 10.1200/JCO.2003.04.060, 12637487.
10. Silva FC, Valentin MD, Ferreira Fde O, Carraro DM, Rossi BM. Mismatch repair genes in Lynch syndrome: a review. Sao Paulo Med J 2009, 127:46-51. 10.1590/S1516-31802009000100010, 19466295.
11. Chadwick RB, Meek JE, Prior TW, Peltomaki P, de La Chapelle A. Polymorphisms in a pseudogene highly homologous to PMS2. Hum Mutat 2000, 16:530. 10.1002/1098-1004(200012)16:6<530::AID-HUMU15>3.0.CO;2-6, 11102987.
12. Hayward BE, De Vos M, Valleley EM, Charlton RS, Taylor GR, Sheridan E, Bonthron DT. Extensive gene conversion at the PMS2 DNA mismatch repair locus. Hum Mutat 2007, 28:424-430. 10.1002/humu.20457, 17253626.
13. Niessen RC, Kleibeuker JH, Jager PO, Sijmons RH, Hofstra RM. Getting rid of the PMS2 pseudogenes: mission impossible?. Hum Mutat 2007, 28:414-415. 10.1002/humu.20447, 17139668.
14. Al-Sukhni W, Aronson M, Gallinger S. Hereditary colorectal cancer syndromes: familial adenomatous polyposis and lynch syndrome. Surg Clin North Am 2008, 88:819-844. vii, 10.1016/j.suc.2008.04.012, 18672142.
15. Boland CR, Koi M, Chang DK, Carethers JM. The biochemical basis of microsatellite instability and abnormal immunohistochemistry and clinical behavior in Lynch syndrome: from bench to bedside. Fam Cancer 2008, 7:41-52. 10.1007/s10689-007-9145-9, 2847875, 17636426.
16. Kolodner RD, Tytell JD, Schmeits JL, Kane MF, Gupta RD, Weger J, Wahlberg S, Fox EA, Peel D, Ziogas A, et al. Germ-line msh6 mutations in colorectal cancer families. Cancer Res 1999, 59:5068-5074.
17. Klift H, Wijnen J, Wagner A, Verkuilen P, Tops C, Otway R, Kohonen-Corish M, Vasen H, Oliani C, Barana D, et al. Molecular characterization of the spectrum of genomic deletions in the mismatch repair genes MSH2, MLH1, MSH6, and PMS2 responsible for hereditary nonpolyposis colorectal cancer (HNPCC). Genes Chromosomes Cancer 2005, 44:123-138. 10.1002/gcc.20219, 15942939.
18. Plaschke J, Ruschoff J, Schackert HK. Genomic rearrangements of hMSH6 contribute to the genetic predisposition in suspected hereditary non-polyposis colorectal cancer syndrome. J Med Genet 2003, 40:597-600. 10.1136/jmg.40.8.597, 1735570, 12920072.
19. Goodfellow PJ, Buttin BM, Herzog TJ, Rader JS, Gibb RK, Swisher E, Look K, Walls KC, Fan MY, Mutch DG. Prevalence of defective DNA mismatch repair and MSH6 mutation in an unselected series of endometrial cancers. Proc Natl Acad Sci USA 2003, 100:5908-5913. 10.1073/pnas.1030231100, 156300, 12732731.
20. Plaschke J, Engel C, Kruger S, Holinski-Feder E, Pagenstecher C, Mangold E, Moeslein G, Schulmann K, Gebert J, von Knebel Doeberitz M, 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 2004, 22:4486-4494. 10.1200/JCO.2004.02.033, 15483016.
21. Wagner A, Barrows A, Wijnen JT, Klift H, Franken PF, Verkuijlen P, Nakagawa H, Geugien M, Jaghmohan-Changur S, Breukel C, et al. Molecular analysis of hereditary nonpolyposis colorectal cancer in the United States: high mutation detection rate among clinically selected families and characterization of an American founder genomic deletion of the MSH2 gene. Am J Hum Genet 2003, 72:1088-1100. 10.1086/373963, 1180263, 12658575.
22. Plaschke J, Kruger S, Pistorius S, Theissig F, Saeger HD, Schackert HK. Involvement of hMSH6 in the development of hereditary and sporadic colorectal cancer revealed by immunostaining is based on germline mutations, but rarely on somatic inactivation. Int J Cancer 2002, 97:643-648. 10.1002/ijc.10097, 11807791.
23. Hampel H, Frankel W, Panescu J, Lockman J, Sotamaa K, Fix D, Comeras I, La Jeunesse J, Nakagawa H, Westman JA, et al. Screening for Lynch syndrome (hereditary nonpolyposis colorectal cancer) among endometrial cancer patients. Cancer Res 2006, 66:7810-7817. 10.1158/0008-5472.CAN-06-1114, 16885385.
24. Senter L, Clendenning M, Sotamaa K, Hampel H, Green J, Potter JD, Lindblom A, Lagerstedt K, Thibodeau SN, Lindor NM, et al. The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations. Gastroenterology 2008, 135:419-428. 10.1053/j.gastro.2008.04.026, 2759321, 18602922.
25. Lagerstedt Robinson K, Liu T, Vandrovcova J, Halvarsson B, Clendenning M, Frebourg T, Papadopoulos N, Kinzler KW, Vogelstein B, Peltomaki P, et al. Lynch syndrome (hereditary nonpolyposis colorectal cancer) diagnostics. J Natl Cancer Inst 2007, 99:291-299. 10.1093/jnci/djk051, 17312306.
26. Etzler J, Peyrl A, Zatkova A, Schildhaus HU, Ficek A, Merkelbach-Bruse S, Kratz CP, Attarbaschi A, Hainfellner JA, Yao S, et al. RNA-based mutation analysis identifies an unusual MSH6 splicing defect and circumvents PMS2 pseudogene interference. Hum Mutat 2008, 29:299-305. 10.1002/humu.20657, 18030674.
27. Zhao YS, Hu FL, Wang F, Han B, Li DD, Li XW, Zhu S. Meta-analysis of MSH6 gene mutation frequency in colorectal and endometrial cancers. J Toxicol Environ Health A 2009, 72:690-697. 10.1080/15287390902841003, 19492230.
28. Devlin LA, Graham CA, Price JH, Morrison PJ. Germline MSH6 mutations are more prevalent in endometrial cancer patient cohorts than hereditary non polyposis colorectal cancer cohorts. Ulster Med J 2008, 77:25-30. 2397009, 18269114.
29. Kastrinos F, Syngal S. Recently identified colon cancer predispositions: MYH and MSH6 mutations. Semin Oncol 2007, 34:418-424. 10.1053/j.seminoncol.2007.07.005, 2259279, 17920897.
30. Alarcon F, Lasset C, Carayol J, Bonadona V, Perdry H, Desseigne F, Wang Q, Bonaiti-Pellie C. Estimating cancer risk in HNPCC by the GRL method. Eur J Hum Genet 2007, 15:831-836. 10.1038/sj.ejhg.5201843, 17473834.
31. Wagner A, Hendriks Y, Meijers-Heijboer EJ, de Leeuw WJ, Morreau H, Hofstra R, Tops C, Bik E, Brocker-Vriends AH, Meer C, et al. Atypical HNPCC owing to MSH6 germline mutations: analysis of a large Dutch pedigree. J Med Genet 2001, 38:318-322. 10.1136/jmg.38.5.318, 1734864, 11333868.
32. Ramsoekh D, Wagner A, van Leerdam ME, Dooijes D, Tops CM, Steyerberg EW, Kuipers EJ. Cancer risk in MLH1, MSH2 and MSH6 mutation carriers; different risk profiles may influence clinical management. Hered Cancer Clin Pract 2009, 7:17. 10.1186/1897-4287-7-17, 2804564, 20028567.
33. Baglietto L, Lindor NM, Dowty JG, White DM, Wagner A, Gomez Garcia EB, Vriends AH, Cartwright NR, Barnetson RA, Farrington SM, et al. Risks of Lynch syndrome cancers for MSH6 mutation carriers. J Natl Cancer Inst 102:193-201.
34. Jarvinen HJ, Renkonen-Sinisalo L, Aktan-Collan K, Peltomaki P, Aaltonen LA, Mecklin JP. Ten years after mutation testing for Lynch syndrome: cancer incidence and outcome in mutation-positive and mutation-negative family members. J Clin Oncol 2009, 27:4793-4797. 10.1200/JCO.2009.23.7784, 19720893.
35. Goldberg Y, Porat RM, Kedar I, Shochat C, Galinsky D, Hamburger T, Hubert A, Strul H, Kariiv R, Ben-Avi L, et al. An Ashkenazi founder mutation in the MSH6 gene leading to HNPCC. Fam Cancer 2009,
36. Scott RJ, McPhillips M, Meldrum CJ, Fitzgerald PE, Adams K, Spigelman AD, du Sart D, Tucker K, Kirk J. Hereditary nonpolyposis colorectal cancer in 95 families: differences and similarities between mutation-positive and mutation-negative kindreds. Am J Hum Genet 2001, 68:118-127. 10.1086/316942, 1234904, 11112663.
37. Muller A, Edmonston TB, Corao DA, Rose DG, Palazzo JP, Becker H, Fry RD, Rueschoff J, Fishel R. Exclusion of breast cancer as an integral tumor of hereditary nonpolyposis colorectal cancer. Cancer Res 2002, 62:1014-1019.
38. Oliveira Ferreira F, Napoli Ferreira CC, Rossi BM, Toshihiko Nakagawa W, Aguilar S, Monteiro Santos EM, Vierira Costa ML, Lopes A. Frequency of extra-colonic tumors in hereditary nonpolyposis colorectal cancer (HNPCC) and familial colorectal cancer (FCC) Brazilian families: An analysis by a Brazilian Hereditary Colorectal Cancer Institutional Registry. Fam Cancer 2004, 3:41-47. 10.1023/B:FAME.0000026810.99776.e9, 15131405.
39. Jensen UB, Sunde L, Timshel S, Halvarsson B, Nissen A, Bernstein I, Nilbert M. Mismatch repair defective breast cancer in the hereditary nonpolyposis colorectal cancer syndrome. Breast Cancer Res Treat 2010, 120(3):777-82. 10.1007/s10549-009-0449-3, 19575290.
40. AUSTRALIAN INSTITUTE OF HEALTH AND WELFARE CANCER AUSTRALIA & AUSTRALASIAN ASSOCIATION OF CANCER REGISTRIES Cancer survival and prevalence in Australia: cancers diagnosed from 1982 to 2004. 2008, (Canberra ed., Cancer Series no. 42 edition), AUSTRALIAN INSTITUTE OF HEALTH AND WELFARE CANCER AUSTRALIA & AUSTRALASIAN ASSOCIATION OF CANCER REGISTRIES.
41. Roncari B, Pedroni M, Maffei S, Di Gregorio C, Ponti G, Scarselli A, Losi L, Benatti P, Roncucci L, De Gaetani C, et al. Frequency of constitutional MSH6 mutations in a consecutive series of families with clinical suspicion of HNPCC. Clin Genet 2007, 72:230-237. 10.1111/j.1399-0004.2007.00856.x, 17718861.
42. Ramsoekh D, Wagner A, van Leerdam ME, Dinjens WN, Steyerberg EW, Halley DJ, Kuipers EJ, Dooijes D. A high incidence of MSH6 mutations in Amsterdam criteria II-negative families tested in a diagnostic setting. Gut 2008, 57:1539-1544. 10.1136/gut.2008.156695, 18625694.
43. Jones JS, Chi X, Gu X, Lynch PM, Amos CI, Frazier ML. p53 polymorphism and age of onset of hereditary nonpolyposis colorectal cancer in a Caucasian population. Clin Cancer Res 2004, 10:5845-5849. 10.1158/1078-0432.CCR-03-0590, 15355915.
44. Talseth BA, Meldrum C, Suchy J, Kurzawski G, Lubinski J, Scott RJ. Age of diagnosis of colorectal cancer in HNPCC patients is more complex than that predicted by R72P polymorphism in TP53. Int J Cancer 2006, 118:2479-2484. 10.1002/ijc.21661, 16353134.
45. Talseth BA, Meldrum C, Suchy J, Kurzawski G, Lubinski J, Scott RJ. Aurora-A and Cyclin D1 polymorphism and the age of onset of colorectal cancer in Hereditary Nonpolyposis Colorectal Cancer. Int J Cancer 2008, 122:1273-1277. 10.1002/ijc.23177, 18027856.
46. Ligtenberg MJ, Kuiper RP, Chan TL, Goossens M, Hebeda KM, Voorendt M, Lee TY, Bodmer D, Hoenselaar E, Hendriks-Cornelissen SJ, 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, 41:112-117. 10.1038/ng.283, 19098912.