Meta-Analysis of MSH6 Gene Mutation Frequency in Colorectal and Endometrial Cancers

REFERENCES

• Acharya , S. , Wilson , T. , Gradia , S. , Kane , M. F. , Guerrette , S. , Marsischky , G. T. , Kolodner , R. and Fishel , R. 1996 . hMSH2 forms specific mispair-binding complexes with hMSH3 and hMSH6 . Proc. Natl. Acad. Sci. USA , 93 : 13629 – 13634 .
   PubMed Web of Science ®Google Scholar
• Barnetson , R. A. , Tenesa , A. , Farrington , S. M. , Nicholl , I. D. , Cetnarskyj , R. , Porteous , M. E. , Campbell , H. and Dunlop , M. G. 2006 . Identification and survival of carriers of mutations in DNA mismatch-repair genes in colon cancer . N. Engl. J. Med. , 354 : 2751 – 2763 .
   PubMed Web of Science ®Google Scholar
• Barnetson , R. A. , Cartwright , N. , van Vliet , A. , Haq , N. , Drew , K. , Farrington , S. , Williams , N. , Warner , J. , Campbell , H. , Porteous , M. E. and Dunlop , M. G. 2007 . Classification of ambiguous mutations in DNA mismatch repair genes identified in a population-based study of colorectal cancer . Hum. Mutat. , 29 : 367 – 374 .
   Web of Science ®Google Scholar
• Berends , M. J. , Wu , Y. , Sijmons , R. H. , Mensink , R. G. , van der Sluis , T. , Hordijk-Hos , J. M. , de Vries , E. G. , Hollema , H. , Karrenbeld , A. , Buys , C. H. , van der Zee , A. G. , Hofstra , R. M. and Kleibeuker , J. H. 2002 . Molecular and clinical characteristics of MSH6 variants: An analysis of 25 index carriers of a germline variant . Am. J. Hum. Genet. , 70 : 26 – 37 .
   PubMed Web of Science ®Google Scholar
• Cai , S. J. , Xu , Y. , Cai , G. X. , Lian , P. , Guan , Z. Q. , Mo , S. J. , Sun , M. H. , Cai , Q. and Shi , D. R. 2003 . Clinical characteristics and diagnosis of patients with hereditary nonpolyposis colorectal cancer . World J. Gastroenterol. , 9 : 284 – 287 .
   PubMed Web of Science ®Google Scholar
• Cederquist , K. 18 november 2005 . Genetic and epidemiological studies of hereditary colorectal cancer , 18 november , Norrlands Universitetssjukhus .
   Google Scholar
• Charames , G. S. , Millar , A. L. , Pal , T. , Narod , S. and Bapat , B. 2000 . Do MSH6 mutations contribute to double primary cancers of the colorectum and endometrium? . Hum. Genet. , 107 : 623 – 629 .
   PubMed Web of Science ®Google Scholar
• Cunningham , J. M. , Kim , C. Y. , Christensen , E. R. , Tester , D. J. , Parc , Y. , Burgart , L. J. , Halling , K. C. , McDonnell , S. K. , Schaid , D. J. , Walsh Vockley , C. , Kubly , V. , Nelson , H. , Michels , V. V. and Thibodeau , S. N. 2001 . The frequency of hereditary defective mismatch repair in a prospective series of unselected colorectal carcinomas . Am. J. Hum. Genet. , 69 : 780 – 790 .
   PubMed Web of Science ®Google Scholar
• Devlin , L. A. , Graham , C. A. , Price , J. H. and Morrison , P. J. 2008 . Germline MSH6 mutations are more prevalent in endometrial cancer patient cohorts than hereditary non polyposis colorectal cancer cohorts . Ulster Med. J. , 77 : 25 – 30 .
   PubMedGoogle Scholar
• Dovrat , S. , Figer , A. , Fidder , H. H. , Neophytou , P. , Fireman , Z. , Geva , R. , Zidan , J. , Flex , D. , Meir , S. B. and Friedman , E. 2005 . Mutational analysis of hMsh6 in Israeli HNPCC and HNPCC-like families . Family Cancer , 4 : 291 – 294 .
   PubMed Web of Science ®Google Scholar
• Fujita , S. , Moriya , Y. , Sugihara , K. , Akasu , T. and Ushio , K. 1996 . Prognosis of hereditary nonpolyposis colorectal cancer (HNPCC) and the role of Japanese criteria for HNPCC . Jpn. J. Clin. Oncol. , 26 : 351 – 355 .
   PubMed Web of Science ®Google Scholar
• Goodfellow , P. J. , Buttin , B. M. , Herzog , T. J. , Rader , J. S. , Gibb , R. K. , Swisher , E. , Look , K. , Walls , K. C. , Fan , M. Y. and Mutch , D. G. 2003 . Prevalence of defective DNA mismatch repair and MSH6 mutation in an unselected series of endometrial cancers . Proc. Natl. Acad. Sci. USA , 100 : 5908 – 5913 .
   PubMed Web of Science ®Google Scholar
• Hampel , H. , Frankel , W. , Panescu , J. , Lockman , J. , Sotamaa , K. , Fix , D. , Comeras , I. , La Jeunesse , J. , Nakagawa , H. , Westman , J. A. , Prior , T. W. , Clendenning , M. , Penzone , P. , Lombardi , J. , Dunn , P. , Cohn , D. E. , Copeland , L. , Eaton , L. , Fowler , J. , Lewandowski , G. , Vaccarello , L. , Bell , J. , Reid , G. and de la Chapelle , A. 2006 . Screening for Lynch syndrome (hereditary nonpolyposis colorectal cancer) among endometrial cancer patients . Cancer Res. , 66 : 7810 – 7817 .
   PubMed Web of Science ®Google Scholar
• Hegde , M. , Blazo , M. , Chong , B. , Prior , T. and Richards , C. 2005 . Assay validation for identification of hereditary nonpolyposis colon cancer-causing mutations in mismatch repair genes MLH1, MSH2, and MSH6 . J. Mol. Diagn. , 7 : 525 – 534 .
   PubMed Web of Science ®Google Scholar
• Hendriks , Y. M. , Wagner , A. , Morreau , H. , Menko , F. , Stormorken , A. , Quehenberger , F. , Sandkuijl , L. , Moller , P. , Genuardi , M. , Van Houwelingen , H. , Tops , C. , Van Puijenbroek , M. , Verkuijlen , P. , Kenter , G. , Van Mil , A. , Meijers-Heijboer , H. , Tan , G. B. , Breuning , M. H. , Fodde , R. , Wijnen , J. T. , Brocker-Vriends , A. H. and Vasen , H. 2004 . Cancer risk in hereditary nonpolyposis colorectal cancer due to MSH6 mutations: Impact on counseling and surveillance . Gastroenterology , 127 : 17 – 25 .
   PubMed Web of Science ®Google Scholar
• Huang , J. , Kuismanen , S. A. , Liu , T. , Chadwick , R. B. , Johnson , C. K. , Stevens , M. W. , Richards , S. K. , Meek , J. E. , Gao , X. , Wright , F. A. , Mecklin , J. P. , Jarvinen , H. J. , Gronberg , H. , Bisgaard , M. L. , Lindblom , A. and Peltomaki , P. 2001 . MSH6 and MSH3 are rarely involved in genetic predisposition to nonpolypotic colon cancer . Cancer Res. , 61 : 1619 – 1623 .
   PubMed Web of Science ®Google Scholar
• Huang , R. L. , Chao , C. F. , Ding , D. C. , Yu , C. P. , Chang , C. C. , Lai , H. C. , Yu , M. H. , Liu , H. S. and Chu , T. Y. 2004 . Multiple epithelial and nonepithelial tumors in hereditary nonpolyposis colorectal cancer: Characterization of germline and somatic mutations of the MSH2 gene and heterogeneity of replication error phenotypes . Cancer Genet. Cytogenet. , 153 : 108 – 114 .
   PubMedGoogle Scholar
• Jin , H. Y. , Liu , X. , Li , V. K. , Ding , Y. , Yan , B. , Geng , J. , Lai , R. , Ding , S. , Ni , M. and Zhao , R. 2008 . Detection of mismatch repair gene germline mutation carrier among Chinese population with colorectal cancer . BMC Cancer , 8 : 44
   PubMed Web of Science ®Google Scholar
• Kariola , R. , Raevaara , T. E. , Lonnqvist , K. E. and Nystrom-Lahti , M. 2002 . Functional analysis of MSH6 mutations linked to kindreds with putative hereditary non-polyposis colorectal cancer syndrome . Hum. Mol Genet. , 11 : 1303 – 1310 .
   PubMed Web of Science ®Google Scholar
• Kolodner , R. D. , Tytell , J. D. , Schmeits , J. L. , Kane , M. F. , Gupta , R. D. , Weger , J. , Wahlberg , S. , Fox , E. A. , Peel , D. , Ziogas , A. , Garber , J. E. , Syngal , S. , Anton-Culver , H. and Li , F. P. 1999 . Germ-line msh6 mutations in colorectal cancer families . Cancer Res. , 59 : 5068 – 5074 .
   PubMed Web of Science ®Google Scholar
• Lindor , N. M. , Petersen , G. M. , Hadley , D. W. , Kinney , A. Y. , Miesfeldt , S. , Lu , K. H. , Lynch , P. , Burke , W. and Press , N. 2006 . Recommendations for the care of individuals with an inherited predisposition to Lynch syndrome: A systematic review . J. Am. Med. Assoc. , 296 : 1507 – 1517 .
   PubMed Web of Science ®Google Scholar
• Lucci-Cordisco , E. , Rovella , V. , Carrara , S. , Percesepe , A. , Pedroni , M. , Bellacosa , A. , Caluseriu , O. , Forasarig , M. , Anti , M. , Neri , G. , Ponz de Leon , M. , Viel , A. and Genuardi , M. 2001 . Mutations of the ‘minor’ mismatch repair gene MSH6 in typical and atypical hereditary nonpolyposis colorectal cancer . Family Cancer , 1 : 93 – 99 .
   PubMedGoogle Scholar
• Lu , K. H. , Schorge , J. O. , Rodabaugh , K. J. , Daniels , M. S. , Sun , C. C. , Soliman , P. T. , White , K. G. , Luthra , R. , Gershenson , D. M. and Broaddus , R. R. 2007 . Prospective determination of prevalence of lynch syndrome in young women with endometrial cancer . J. Clin. Oncol. , 25 : 5158 – 5164 .
   PubMed Web of Science ®Google Scholar
• Miyaki , M. , Konishi , M. , Tanaka , K. , Kikuchi-Yanoshita , R. , Muraoka , M. , Yasuno , M. , Igari , T. , Koike , M. , Chiba , M. and Mori , T. 1997 . Germline mutation of MSH6 as the cause of hereditary nonpolyposis colorectal cancer . Nat. Genet. , 17 : 271 – 272 .
   PubMed Web of Science ®Google Scholar
• Ohmiya , N. , Matsumoto , S. , Yamamoto , H. , Baranovskaya , S. , Malkhosyan , S. R. and Perucho , M. 2001 . Germline and somatic mutations in hMSH6 and hMSH3 in gastrointestinal cancers of the microsatellite mutator phenotype . Gene , 272 : 301 – 313 .
   PubMed Web of Science ®Google Scholar
• Ollikainen , M. , Abdel-Rahman , W. M. , Moisio , A. L. , Lindroos , A. , Kariola , R. , Jarvela , I. , Poyhonen , M. , Butzow , R. and Peltomaki , P. 2005 . Molecular analysis of familial endometrial carcinoma: A manifestation of hereditary nonpolyposis colorectal cancer or a separate syndrome? . J. Clin. Oncol. , 23 : 4609 – 4616 .
   PubMed Web of Science ®Google Scholar
• Parc , Y. R. , Halling , K. C. , Wang , L. , Christensen , E. R. , Cunningham , J. M. , French , A. J. , Burgart , L. J. , Price-Troska , T. L. , Roche , P. C. and Thibodeau , S. N. 2000 . HMSH6 alterations in patients with microsatellite instability-low colorectal cancer . Cancer Res. , 60 : 2225 – 2231 .
   PubMed Web of Science ®Google Scholar
• Peterlongo , P. , Nafa , K. , Lerman , G. S. , Glogowski , E. , Shia , J. , Ye , T. Z. , Markowitz , A. J. , Guillem , J. G. , Kolachana , P. , Boyd , J. A. , Offit , K. and Ellis , N. A. 2003 . MSH6 germline mutations are rare in colorectal cancer families . Int. J. Cancer , 107 : 571 – 579 .
   PubMed Web of Science ®Google Scholar
• Planck , M. , Koul , A. , Fernebro , E. , Borg , A. , Kristoffersson , U. , Olsson , H. , Wenngren , E. , Mangell , P. and Nilbert , M. 1999 . hMLH1, hMSH2 and hMSH6 mutations in hereditary non-polyposis colorectal cancer families from southern Sweden . Int. J. Cancer , 83 : 197 – 202 .
   PubMed Web of Science ®Google Scholar
• Plaschke , J. , Engel , C. , Kruger , S. , Holinski-Feder , E. , Pagenstecher , C. , Mangold , E. , Moeslein , G. , Schulmann , K. , Gebert , J. , von Knebel Doeberitz , M. , Ruschoff , J. , Loeffler , M. and Schackert , H. K. 2004 . Lower incidence of colorectal cancer and later age of disease onset in 27 families with pathogenic MSH6 germ-line mutations compared with families with MLH1 or MSH2 mutations: The German Hereditary Nonpolyposis Colorectal Cancer Consortium . J. Clin. Oncol. , 22 : 4486 – 4494 .
   PubMed Web of Science ®Google Scholar
• Plotz , G. , Zeuzem , S. and Raedle , J. 2006 . DNA mismatch repair and Lynch syndrome . J. Mol. Histol. , 37 : 271 – 283 .
   PubMed Web of Science ®Google Scholar
• Shin , Y. K. , Heo , S. C. , Shin , J. H. , Hong , S. H. , Ku , J. L. , Yoo , B. C. , Kim , I. J. and Park , J. G. 2004 . Germline mutations in MLH1, MSH2 and MSH6 in Korean hereditary non-polyposis colorectal cancer families . Hum. Mutat. , 24 : 351
   PubMedGoogle Scholar
• Soreide , K. 2007 . Molecular testing for microsatellite instability and DNA mismatch repair defects in hereditary and sporadic colorectal cancers—Ready for prime time? . Tumour Biol. , 28 : 290 – 300 .
   PubMedGoogle Scholar
• Wagner , A. , Barrows , A. , Wijnen , J. T. , van der Klift , H. , Franken , P. F. , Verkuijlen , P. , Nakagawa , H. , Geugien , M. , Jaghmohan-Changur , S. , Breukel , C. , Meijers-Heijboer , H. , Morreau , H. , van Puijenbroek , M. , Burn , J. , Coronel , S. , Kinarski , Y. , Okimoto , R. , Watson , P. , Lynch , J. F. , de la Chapelle , A. , Lynch , H. T. and Fodde , R. 2003 . 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. , 72 : 1088 – 1100 .
   PubMed Web of Science ®Google Scholar
• Wang , Q. , Lasset , C. , Desseigne , F. , Saurin , J. C. , Maugard , C. , Navarro , C. , Ruano , E. , Descos , L. , Trillet-Lenoir , V. , Bosset , J. F. and Puisieux , A. 1999 . Prevalence of germline mutations of hMLH1, hMSH2, hPMS1, hPMS2, and hMSH6 genes in 75 French kindreds with nonpolyposis colorectal cancer . Hum. Genet. , 105 : 79 – 85 .
   PubMed Web of Science ®Google Scholar
• Wijnen , J. , Khan , P. M. , Vasen , H. , van der Klift , H. , Mulder , A. , van Leeuwen-Cornelisse , I. , Bakker , B. , Losekoot , M. , Moller , P. and Fodde , R. 1997 . 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 : 329 – 335 .
   PubMed Web of Science ®Google Scholar
• Wijnen , J. , de Leeuw , W. , Vasen , H. , van der Klift , H. , Moller , P. , Stormorken , A. , Meijers-Heijboer , H. , Lindhout , D. , Menko , F. , Vossen , S. , Moslein , G. , Tops , C. , Brocker-Vriends , A. , Wu , Y. , Hofstra , R. , Sijmons , R. , Cornelisse , C. , Morreau , H. and Fodde , R. 1999 . Familial endometrial cancer in female carriers of MSH6 germline mutations . Nat. Genet. , 23 : 142 – 144 .
   PubMed Web of Science ®Google Scholar
• Wu , Y. , Berends , M. J. , Mensink , R. G. , Kempinga , C. , Sijmons , R. H. , van Der Zee , A. G. , Hollema , H. , Kleibeuker , J. H. , Buys , C. H. and Hofstra , R. M. 1999 . Association of hereditary nonpolyposis colorectal cancer-related tumors displaying low microsatellite instability with MSH6 germline mutations . Am. J. Hum. Genet. , 65 : 1291 – 1298 .
   PubMed Web of Science ®Google Scholar
• Yan , S. Y. , Zhou , X. Y. , Du , X. , Zhang , T. M. , Lu , Y. M. , Cai , S. J. , Xu , X. L. , Yu , B. H. , Zhou , H. H. and Shi , D. R. 2007 . Three novel missense germline mutations in different exons of MSH6 gene in Chinese hereditary non-polyposis colorectal cancer families . World J. Gastroenterol. , 13 : 5021 – 5024 .
   PubMed Web of Science ®Google Scholar