317
Views
89
CrossRef citations to date
0
Altmetric
Original

Mismatch Repair and the Hereditary Non-polyposis Colorectal Cancer Syndrome (HNPCC)

, M.D. & , Ph.D.
Pages 102-109 | Published online: 22 Apr 2002

REFERENCES

  • Warthin A. Hereditary with Reference to Carcinoma. Arch. Intern. Med. 1913; 546–555
  • Warthin A.S. Heredity of Carcinoma in Man. Ann. Intern. Med. 1931; 4: 681–696
  • Lynch H.T., Shaw M.W., Magnuson C.W., Larsen A.L., Krush A.J. Hereditary Factors in Cancer. Study of Two Large Midwestern Kindreds. Arch. Intern. Med. 1966; 117: 206–212
  • Lynch H.T., Krush A.J. Cancer Family G Revisited: 1895–1970. Cancer 1971; 27: 1505–1511
  • Vasen H.F., Lamers C.B., Lips C.J. Screening for the Multiple Endocrine Neoplasia Syndrome Type I. A Study of 11 Kindreds in The Netherlands. Arch. Intern. Med. 1989; 149: 2717–2722
  • Lynch H.T., Smyrk T.C., Watson P., Lanspa S.J., Lynch J.F., Lynch P.M., Cavalieri R.J., Boland C.R. Genetics, Natural History, Tumor Spectrum, and Pathology of Hereditary Nonpolyposis Colorectal Cancer: An Updated Review. Gastroenterology 1993; 104: 1535–1549
  • Lynch H.T., Watson P., Kriegler M., Lynch J.F., Lanspa S.J., Marcus J., Smyrk T., Fitzgibbons R.J., Jr., Cristofaro G. Differential Diagnosis of Hereditary Nonpolyposis Colorectal Cancer (Lynch Syndrome I and Lynch Syndrome II). Dis. Colon Rectum 1988; 31: 372–377
  • Lynch H.T., Lynch P.M. Tumor Variation in the Cancer Family Syndrome: Ovarian Cancer. Am. J. Surg. 1979; 138: 439–442
  • Lynch H.T., Lynch J.F. The Lynch Syndromes [Review]. Curr. Opin. Oncol. 1993; 5: 687–696
  • Lynch H.T., Ens J., Lynch J.F., Watson P. Tumor Variation in Three Extended Lynch Syndrome II Kindreds. Am. J. Gastroenterol. 1988; 83: 741–747
  • Lynch H.T., Voorhees G.J., Lanspa S.J., McGreevy P.S., Lynch J.F. Pancreatic Carcinoma and Hereditary Nonpolyposis Colorectal Cancer: A Family Study. Br. J. Cancer 1985; 52: 271–273
  • Lynch H.T., Kriegler M., Christiansen T.A., Smyrk T., Lynch J.F., Watson P. Laryngeal Carcinoma in a Lynch Syndrome II Kindred. Cancer 1988; 62: 1007–1013
  • D'Emilia J.C., Rodriguez Bigas M.A., Petrelli N.J. The Clinical and Genetic Manifestations of Hereditary Nonpolyposis Colorectal Carcinoma [Review; 55 refs]. Am. J. Surg. 1995; 169: 368–372
  • Svendsen L.B., Bulow S., Mellemgaard A. Metachronous Colorectal Cancer in Young Patients: Expression of the Hereditary Nonpolyposis Colorectal Cancer Syndrome?. Dis. Colon Rectum 1991; 34: 790–793
  • Ionov Y., Peinado M.A., Malkbosyan S., Shibata D., Perucho M. Ubiquitous Somatic Mutations in Simple Repeated Sequences Reveal a New Mechanism for Colonic Carcinogenesis. Nature 1993; 363: 558–561
  • Thibodeau S.N., Bren G., Schaid D. Microsatellite Instability in Cancer of the Proximal Colon. Science 1993; 260: 816–819
  • Tautz D. Notes on the Definition and Nomenclature of Tandemly Repetitive DNA Sequences. [Review; 31 refs]. EXS 1993; 67: 21–28
  • Aaltonen L.A., Peltomaki P., Leach F., Sistonen P., Pylkkanen S.M., Mecklin J.-P., Jarvinen H., Powell S., Jen J., Hamilton S.R., Petersen G.M., Kinzler K.W., Vogelstein B., de la Chapelle A. Clues to the Pathogenesis of Familial Colorectal Cancer. Science 1993; 260: 812–816
  • Dietmaier W., Wallinger S., Bocker T., Kullmann F., Fishel R., Ruschoff J. Diagnostic Microsatellite Instability—Definition and Correlation With Mismatch Repair Protein Expression. Cancer Res. 1997; 57: 4749–4756
  • Fishel R., Lescoe M.K., Rao M.R., Copeland N.G., Jenkins N.A., 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
  • Leach F.S., Nicolaides N.C., Papadopoulos N., Liu B., Jen J., Parsons R., Peltomaki P., Sistonen P., Aaltonen L.A., Nystrom-Lahti M., Guan X.-Y., Zhang J., Meltzer P.S., Yu J.-W., Kao F.-T., Chen D.J., Cerosaletti K.M., Fournier R.E.K., Todd S., Lewis T., Leach R.J., Naylor S.L., Weissenbach J., Mecklin J.-P., Jarvinen H., Petersen G.M., Hamilton S.R., Green J., Jass J., Watson P., Lynch H.T., Trent J.M., de la Chapelle A., Kinsler K.W., Vogelstein B. Mutations of a mutS Homolog in Hereditary Nonpolyposis Colorectal Cancer. Cell 1993; 75: 1215–1225
  • Bronner C.E., Baker S.M., Morrison P.T., Warren G., Smith L.G., Lescoe M.K., Kane M., Earabino C., Lipford J., Lindblom A., , et al. Mutation in the DNA Mismatch Repair Gene Homologue hMLH1 is Associated with Hereditary Non-Polyposis Colon Cancer. Nature 1994; 368: 258–261
  • Nicolaides N.C., Papadopoulos N., Liu B., Wei Y.F., Carter K.C., Ruben S.M., Rosen C.A., Haseltine W.A., Fleischmann R.D., Fraser C.M., , et al. Mutations of Two PMS Homologues in Hereditary Nonpolyposis Colon Cancer. Nature 1994; 371: 75–80
  • Nicolaides N.C., Palombo F., Kinzler K.W., Vogelstein B., Jiricny J. Molecular Cloning of the N-Terminus of GTBP. Genomics 1996; 31: 395–397
  • Kolodner R.D., Tytell J.D., Schmeits J.L., Kane M.F., Das Gupta R., Weger J., Wahlberg S., Fox E.A., Peel D., Ziogas A., Garber J.E., Syngal S., Anton Culver H., Li F.P. Germ-line msh6 Mutations in Colorectal Cancer Families. Cancer Res. 1999; 59: 5068–5074
  • Papadopoulos N., Nicolaides N.C., Wei Y.-F., Ruben S.M., Carter K.C., Rosen C.A., Haseltine W.A., Fleischmann R.D., Fraser C.M., Adams M.D., Venter J.C., Hamilton S.R., Petersen G.M., Watson P., Lynch H.T., Peltomaki P., Mecklin J.-P., de la Chapelle A., Kinzler K.W., Vogelstein B. Mutation of a mutL Homolog in Hereditary Colon Cancer. Science 1994; 263: 1625–1629
  • Holliday R.A. A Mechanism for Gene Conversion in Fungi. Genet. Res. 1964; 5: 282–304
  • Duncan B.K., Miller J.H. Mutagenic Deamination of Cytosine Residues in DNA. Nature 1980; 287: 560–561
  • Friedberg E.C. DNA Repair. W.H. Freeman, New York 1990
  • Modrich P. Strand-Specific Mismatch Repair in Mammalian Cells [Review]. J. Biol. Chem. 1997; 272: 24727–24730
  • Su S.-S., Modrich P. Escherichia coli mutS-Encoded Protein Binds to Mismatched DNA Base Pairs. Proc. Natl. Acad. Sci. USA 1986; 83: 5057–5061
  • Su S.S., Lahue R.S., Au K.G., Modrich P. Mispair Specificity of Methyl-Directed DNA Mismatch Correction In Vitro [Published Erratum appears in J. Biol. Chem. 1988 Aug 5;263(22):11015]. J. Biol. Chem. 1988; 263: 6829–6835
  • Grilley M., Welsh K.M., Su S.S., Modrich P. Isolation and Characterization of the Escherichia coli mutL Gene Product. J. Biol. Chem. 1989; 264: 1000–1004
  • Welsh K.M., Lu A.L., Clark S., Modrich P. Isolation and Characterization of the Escherichia coli mutH Gene Product. J. Biol. Chem. 1987; 262: 15624–15629
  • Fishel R., Wilson T. MutS Homologs in Mammalian Cells. [Review; 84 refs]. Curr. Opin. Genet. Dev. 1997; 7: 105–113
  • Bhattacharyya N.P., Skandalis A., Ganesh A., Groden J., Meuth M. Mutator Phenotype in Human Colorectal Carcinoma Cell Lines. Proc. Natl. Acad. Sci. USA 1994; 91: 6319–6323
  • Loeb L.A. Mutator Phenotype may be Required for Multistage Carcinogenesis [Review; 63 refs]. Cancer Res. 1991; 51: 3075–3079
  • Groden J., Thliveris A., Samowitz W., Carlson M., Gelbert L., Albertsen H., Joslyn G., Stevens J., Spirio L., Robertson M., , et al. Identification and Characterization of the Familial Adenomatous Polyposis Coli Gene. Cell 1991; 66: 589–600
  • Aarnio M., Mecklin J.P., Aaltonen L.A., Nystrom Lahti M., Jarvinen H.J. Life-Time Risk of Different Cancers in Hereditary Non-Polyposis Colorectal Cancer (HNPCC) Syndrome. Int. J. Cancer 1995; 64: 430–433
  • Dunlop M.G., Farrington S.M., Carothers A.D., Wyllie A.H., Sharp L., Burn J., Liu B., Kinzler K.W., Vogelstein B. Cancer Risk Associated with Germline DNA Mismatch Repair Gene Mutations. Hum. Mol. Genet. 1997; 6: 105–110
  • Vasen H.F., Mecklin J.P., Khan P.M., Lynch H.T. The International Collaborative Group on Hereditary Non-Polyposis Colorectal Cancer (ICG–HNPCC). Dis. Colon. Rectum 1991; 34: 424–425
  • Rodriguez Bigas M.A., Boland C.R., Hamilton S.R., Henson D.E., Jass J.R., Khan P.M., Lynch H., Perucho M., Smyrk T., Sobin L., Srivastava S. A National Cancer Institute Workshop on Hereditary Nonpolyposis Colorectal Cancer Syndrome: Meeting Highlights and Bethesda guidelines [see comments]. J. Natl. Cancer Inst. 1997; 89: 1758–1762
  • Mecklin J.P., Sipponen P., Jarvinen H.J. Histopathology of Colorectal Carcinomas and Adenomas in Cancer Family Syndrome. Dis. Colon Rectum 1986; 29: 849–853
  • Frei J.V. Hereditary Nonpolyposis Colorectal Cancer (Lynch Syndrome II) Diploid Malignancies with Prolonged Survival. Cancer 1992; 69: 1108–1111
  • Kouri M. Diploid Predominance in Hereditary Nonpolyposis Colorectal Cancer Evaluated by Flow Cytrometry. Cancer 1990; 1825–1829
  • Bocker T., Schlegel J., Kullmann F., Stumm G., Zirngibl H., Epplen J.T., Ruschoff J. Genomic Instability in Colorectal Carcinomas: Comparison of Different Evaluation Methods and Their Biological Significance. J. Pathol. 1996; 179: 15–19
  • Jass J.R., Do K.A., Simms L.A., Iino H., Wynter C., Pillay S.P., Searle J., Radford Smith G., Young J., Leggett B. Morphology of Sporadic Colorectal Cancer with DNA Replication Errors. Gut 1998; 42: 673–679
  • Lynch H., Harris R. Managment of Hereditary Side-Specific Colon Cancer. Arch. Surg. 1977; 170–174
  • Peltomaki P., Vasen H.F. 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
  • Bocker T., Diermann J., Friedl W., Gebert J., Holinski Feder E., Karner Hanusch J., von Knebel Doeberitz M., Koelble K., Moeslein G., Schackert H.K., Wirtz H.C., Fishel R., Ruschoff J. Microsatellite Instability Analysis: a Multicenter Study for Reliability and Quality Control. Cancer Res. 1997; 57: 4739–4743
  • Rüschoff J. Microsatellite Instability: New Aspects in the Carcinogenesis of Colorectal Carcinomas. Virchow Arch. 1995; 215–222
  • Contegiacomo A. Microsatellite Instability and Pathological Aspects of Breast Cancer. Int. J. Cancer 1998; 264–268
  • Thibodeau S.N., French A.J., Roche P.C., Cunningham J.M., Tester D.J., Lindor N.M., Moslein G., Baker S.M., Liskay R.M., Burgart L.J., Honchel R., Halling K.C. Altered Expression of hMSH2 and hMLH1 in Tumors with Microsatellite Instability and Genetic Alterations in Mismatch Repair Genes. Cancer Res. 1996; 56: 4836–4840
  • Risinger J.I., Umar A., Boyd J., Berchuck A., Kunkel T.A., Barrett J.C. Mutation of MSH3 in Endometrial Cancer and Evidence for its Functional Role in Heteroduplex Repair. Nature Genet. 1996; 14: 102–105
  • Wijnen; et al. Familial Endometrial Cancer in Female carriers of MSH6 germline mutations., Nature Genet. 1999, 23, 142–144.
  • Kane M.F., Loda M., Gaida G.M., Lipman J., Mishra R., Goldman H., Jessup J.M., Kolodner R. 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. 1997; 57: 808–811
  • Vasen H.F., Wijnen J.T., Menko F.H., Kleibeuker J.H., Taal B.G., Griffioen G., Nagengast F.M., Meijers Heijboer E.H., Bertario L., Varesco L., Bisgaard M.L., Mohr J., Fodde R., Khan P.M. Cancer Risk in Families with Hereditary Nonpolyposis Colorectal Cancer Diagnosed by Mutation Analysis [Published Erratum appears in Gastroenterology 1996 Nov;111(5):1402]. Gastroenterology 1996; 110: 1020–1027
  • Weber T. Clinical Surveillance Recommendations Adopted for HNPCC. Lancet 1996; 348: 465–471
  • Fitzgibbons Recognition and Treatment of Patients with Hereditary Non-Polyposis Colorectal Cancer. Ann. Surg. 1987, 206, 289–295.
  • Rüschoff J. Aspirin Supress the Mutator Phenotype Associated with Hereditary Nonpolyposis Cancer by Genetic Selection. Proc. Natl. Acad. Sci. 1999; 95: 11301–11306
  • Lynch H.T. Is There are a Role for Prophylactic Subtotal Surgery Among Hereditary Nonpolyposis Colorectal Cancer Germline Mutation Carriers?. Dis. Colon Rectum 1996; 39: 109–110
  • Aebi S., Kurdi Haidar B., Gordon R., Cenni B., Zheng H., Fink D., Christen R.D., Boland C.R., Koi M., Fishel R., Howell S.B. Loss of DNA Mismatch Repair in Acquired Resistance to Cisplatin. Cancer Res. 1996; 56: 3087–3090
  • Karran P., Bignami M. Drug-Related Killings: a Case of Mistaken Identity [Review; 23 refs]. Chem. Biol. 1996; 3: 875–879
  • Fishel R. Signaling Mismatch Repair in Cancer. Nat. Med. 1999; 5: 1239–1241

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.