omim.org

Online Mendelian Inheritance in Man (OMIM)

  • ️Thu Apr 11 2002

  1. Alazzouzi, H., Domingo, E., Gonzalez, S., Blanco, I., Armengol, M., Espin, E., Plaja, A., Schwartz, S., Capella, G., Schwartz, S., Jr. Low levels of microsatellite instability characterize MLH1 and MSH2 HNPCC carriers before tumor diagnosis. Hum. Molec. Genet. 14: 235-239, 2005. [PubMed: 15563510] [Full Text: https://doi.org/10.1093/hmg/ddi021]

  2. Andrew, S. Personal Communication. Edmonton, Alberta, Canada 4/11/2002.

  3. Aquilina, G., Hess, P., Branch, P., MacGeoch, C., Casciano, I., Karran, P., Bignami, M. A mismatch recognition defect in colon carcinoma confers DNA microsatellite instability and a mutator phenotype. Proc. Nat. Acad. Sci. 91: 8905-8909, 1994. [PubMed: 8090742] [Full Text: https://doi.org/10.1073/pnas.91.19.8905]

  4. Barana, D., Cetto, G. L., Oliani, C., van der Klift, H., Wijnen, J., Fodde, R., Dalla Longa, E., Radice, P. Spectrum of genetic alterations in Muir-Torre syndrome is the same as in HNPCC. (Letter) Am. J. Med. Genet. 125A: 318-319, 2004. [PubMed: 14994245] [Full Text: https://doi.org/10.1002/ajmg.a.20523]

  5. Barnetson, R. A., Tenesa, A., Farrington, S. M., Nicholl, I. D., Cetnarskyj, R., Porteous, M. E., Campbell, H., Dunlop, M. G. Identification and survival of carriers of mutations in DNA mismatch-repair genes in colon cancer. New Eng. J. Med. 354: 2751-2763, 2006. [PubMed: 16807412] [Full Text: https://doi.org/10.1056/NEJMoa053493]

  6. Borelli, I., Barberis, M. A., Spina, F., Casalis Cavalchini, G. C., Vivanet, C., Balestrino, L., Micheletti, M., Allavena, A., Sala, P., Carcassi, C., Pasini, B. A unique MSH2 exon 8 deletion accounts for a major portion of all mismatch repair gene mutations in Lynch syndrome families of Sardinian origin. Europ. J. Hum. Genet. 21: 154-161, 2013. [PubMed: 22781090] [Full Text: https://doi.org/10.1038/ejhg.2012.150]

  7. Bougeard, G., Charbonnier, F., Moerman, A., Martin, C., Ruchoux, M. M., Drouot, N., Frebourg, T. Early-onset brain tumor and lymphoma in MSH2-deficient children. (Letter) Am. J. Hum. Genet. 72: 213-216, 2003. [PubMed: 12549480] [Full Text: https://doi.org/10.1086/345297]

  8. Brown, K. D., Rathi, A., Kamath, R., Beardsley, D. I., Zhan, Q., Mannino, J. L., Baskaran, R. The mismatch repair system is required for S-phase checkpoint activation. Nature Genet. 33: 80-84, 2003. [PubMed: 12447371] [Full Text: https://doi.org/10.1038/ng1052]

  9. Chan, T. L., Chan, Y. W., Ho, J. W. C., Chan, C., Chan, A. S. Y., Chan, E., Lam, P. W. Y., Tse, C. W., Lee, K. C., Lau, C. W., Gwi, E., Leung, S. Y., Yuen, S. T. MSH2 c.1452-1455delAATG is a founder mutation and an important cause of hereditary nonpolyposis colorectal cancer in the southern Chinese population. Am. J. Hum. Genet. 74: 1035-1042, 2004. [PubMed: 15042510] [Full Text: https://doi.org/10.1086/383591]

  10. Chan, T. L., Yuen, S. T., Kong, C. K., Chan, Y. W., Chan, A. S. Y., Ng, W. F., Tsui, W. Y., Lo, M. W. S., Tam, W. Y., Li, V. S. W., Leung, S. Y. Heritable germline epimutation of MSH2 in a family with hereditary nonpolyposis colorectal cancer. Nature Genet. 38: 1178-1183, 2006. [PubMed: 16951683] [Full Text: https://doi.org/10.1038/ng1866]

  11. de Wind, N., Dekker, M., Berns, A., Radman, M., te Riele, H. Inactivation of the mouse Msh2 gene results in mismatch repair deficiency, methylation tolerance, hyperrecombination, and predisposition to cancer. Cell 82: 321-330, 1995. [PubMed: 7628020] [Full Text: https://doi.org/10.1016/0092-8674(95)90319-4]

  12. Desai, D. C., Lockman, J. C., Chadwick, R. B., Gao, X., Percesepe, A., Evans, D. G. R., Miyaki, M., Yuen, S. T., Radice, P., Maher, E. R., Wright, F. A., de la Chapelle, A. Recurrent germline mutation in MSH2 arises frequently de novo. J. Med. Genet. 37: 646-652, 2000. [PubMed: 10978353] [Full Text: https://doi.org/10.1136/jmg.37.9.646]

  13. DeWeese, T. L., Shipman, J. M., Larrier, N. A., Buckley, N. M., Kidd, L. R., Groopman, J. D., Cutler, R. G., te Riele, H., Nelson, W. G. Mouse embryonic stem cells carrying one or two defective Msh2 alleles respond abnormally to oxidative stress inflicted by low-level radiation. Proc. Nat. Acad. Sci. 95: 11915-11920, 1998. [PubMed: 9751765] [Full Text: https://doi.org/10.1073/pnas.95.20.11915]

  14. Duval, A., Raphael, M., Brennetot, C., Poirel, H., Buhard, O., Aubry, A., Martin, A., Krimi, A., Leblond, V., Gabarre, J., Davi, F., Charlotte, F., and 15 others. The mutator pathway is a feature of immunodeficiency-related lymphomas. Proc. Nat. Acad. Sci. 101: 5002-5007, 2004. [PubMed: 15047891] [Full Text: https://doi.org/10.1073/pnas.0400945101]

  15. Ellison, A. R., Lofing, J., Bitter, G. A. Functional analysis of human MLH1 and MSH2 missense variants and hybrid human-yeast MLH1 proteins in Saccharomyces cerevisiae. Hum. Molec. Genet. 10: 1889-1900, 2001. [PubMed: 11555625] [Full Text: https://doi.org/10.1093/hmg/10.18.1889]

  16. Esche, C., Kruse, R., Lamberti, C., Friedl, W., Propping, P., Lehmann, P., Ruzicka, T. Muir-Torre syndrome: clinical features and molecular genetic analysis. Brit. J. Derm. 136: 913-917, 1997. [PubMed: 9217825]

  17. Fishel, R., Ewel, A., Lee, S., Lescoe, M. K., Griffith, J. Binding of mismatched microsatellite DNA sequences by the human MSH2 protein. Science 266: 1403-1405, 1994. [PubMed: 7973733] [Full Text: https://doi.org/10.1126/science.7973733]

  18. Fishel, R., Lescoe, M. K., Rao, M. R. S., 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 75: 1027-1038, 1993. Note: Erratum: Cell 77: following 166, 1994. [PubMed: 8252616] [Full Text: https://doi.org/10.1016/0092-8674(93)90546-3]

  19. Foulkes, W. D., Thiffault, I., Gruber, S. B., Horwitz, M., Hamel, N., Lee, C., Shia, J., Markowitz, A., Figer, A., Friedman, E., Farber, D., Greenwood, C. M. T., and 21 others. The founder mutation MSH2*1906G-C is an important cause of hereditary nonpolyposis colorectal cancer in the Ashkenazi Jewish population. Am. J. Hum. Genet. 71: 1395-1412, 2002. [PubMed: 12454801] [Full Text: https://doi.org/10.1086/345075]

  20. Froggatt, N. J., Green, J., Brassett, C., Evans, D. G. R., Bishop, D. T., Kolodner, R., Maher, E. R. A common MSH2 mutation in English and North American HNPCC families: origin, phenotypic expression, and sex specific differences in colorectal cancer. J. Med. Genet. 36: 97-102, 1999. [PubMed: 10051005]

  21. Genuardi, M., Viel, A., Bonora, D., Capozzi, E., Bellacosa, A., Leonardi, F., Valle, R., Ventura, A., Pedroni, M., Boiocchi, M., Neri, G. Characterization of MLH1 and MSH2 alternative splicing and its relevance to molecular testing of colorectal cancer susceptibility. Hum. Genet. 102: 15-20, 1998. [PubMed: 9490293] [Full Text: https://doi.org/10.1007/s004390050648]

  22. Gradia, S., Acharya, S., Fishel, R. The human mismatch recognition complex hMSH2-hMSH6 functions as a novel molecular switch. Cell 91: 995-1005, 1997. [PubMed: 9428522] [Full Text: https://doi.org/10.1016/s0092-8674(00)80490-0]

  23. Gradia, S., Subramanian, D., Wilson, T., Acharya, S., Makhov, A., Griffith, J., Fishel, R. hMSH2-hMSH6 forms a hydrolysis-independent sliding clamp on mismatched DNA. Molec. Cell 3: 255-261, 1999. [PubMed: 10078208] [Full Text: https://doi.org/10.1016/s1097-2765(00)80316-0]

  24. Hall, N. R., Murday, V. A., Chapman, P., Williams, M. A., Burn, J., Finan, P. J., Bishop, D. T. Genetic linkage in Muir-Torre syndrome to the same chromosomal site as cancer family syndrome. Europ. J. Cancer 30A: 180-182, 1994. [PubMed: 8155392] [Full Text: https://doi.org/10.1016/0959-8049(94)90083-3]

  25. Jeon, H. M., Lynch, P. M., Howard, L., Ajani, J., Levin, B., Frazier, M. L. Mutation of the hMSH2 gene in two families with hereditary nonpolyposis colorectal cancer. Hum. Mutat. 7: 327-333, 1996. [PubMed: 8723682] [Full Text: https://doi.org/10.1002/(SICI)1098-1004(1996)7:4<327::AID-HUMU6>3.0.CO;2-5]

  26. Jin, Y. H., Clark, A. B., Slebos, R. J. C., Al-Refai, H., Taylor, J. A., Kunkel, T. A., Resnick, M. A., Gordenin, D. A. Cadmium is a mutagen that acts by inhibiting mismatch repair. Nature Genet. 34: 326-329, 2003. [PubMed: 12796780] [Full Text: https://doi.org/10.1038/ng1172]

  27. Kets, C. M., Hoogerbrugge, N., van Krieken, J. H. J. M., Goossens, M., Brunner, H. G., Ligtenberg, M. J. L. Compound heterozygosity for two MSH2 mutations suggests mild consequences of the initiation codon variant c.1A-G of MSH2. Europ. J. Hum. Genet. 17: 159-164, 2009. [PubMed: 18781192] [Full Text: https://doi.org/10.1038/ejhg.2008.153]

  28. Kolodner, R. D., Hall, N. R., Lipford, J., Kane, M. F., Rao, M. R. S., Morrison, P., Wirth, L., Finan, P. J., Burn, J., Chapman, P., Earabino, C., Merchant, E., Bishops, D. T. Structure of the human MSH2 locus and analysis of two Muir-Torre kindreds for msh2 mutations. Genomics 24: 516-526, 1994. Note: Erratum: Genomics 28: 613 only, 1995. [PubMed: 7713503] [Full Text: https://doi.org/10.1006/geno.1994.1661]

  29. Kovtun, I. V., Thornhill, A. R., McMurray, C. T. Somatic deletion events occur during early embryonic development and modify the extent of CAG expansion in subsequent generations. Hum. Molec. Genet. 13: 3057-3068, 2004. [PubMed: 15496421] [Full Text: https://doi.org/10.1093/hmg/ddh325]

  30. Kurzawski, G., Suchy, J., Lener, M., Klujszo-Grabowska, E., Kladny, J., Safranow, K., Jakubowska, K., Jakubowska, A., Huzarski, T., Byrski, T., Debniak, T., Cybulski, C., and 30 others. Germline MSH2 and MLH1 mutational spectrum including large rearrangements in HNPCC families from Poland (update study). Clin. Genet. 69: 40-47, 2006. [PubMed: 16451135] [Full Text: https://doi.org/10.1111/j.1399-0004.2006.00550.x]

  31. Lamers, M. H., Perrakis, A., Enzlin, J. H., Winterwerp, H. H. K., de Wind, N., Sixma, T. K. The crystal structure of DNA mismatch repair protein MutS binding to a G/T mismatch. Nature 407: 711-717, 2000. [PubMed: 11048711] [Full Text: https://doi.org/10.1038/35037523]

  32. 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., and 23 others. Mutations of a MutS homolog in hereditary non-polyposis colorectal cancer. Cell 75: 1215-1225, 1993. [PubMed: 8261515] [Full Text: https://doi.org/10.1016/0092-8674(93)90330-s]

  33. Ligtenberg, M. J. L., Kuiper, R. P., Chan, T. L., Goossens, M., Hebeda, K. M., Voorendt, M., Lee, T. Y. H., Bodmer, D., Hoenselaar, E., Hendriks-Cornelissen, S. J. B., Tsui, W. Y., Kong, C. K., Brunner, H. G., Geurts van Kessel, A., Yuen, S. T., van Krieken, J. H. J. M., Leung, S. Y., Hoogerbrugge, N. Heritable somatic methylation and inactivation of MSH2 in families with Lynch syndrome due to deletion of the 3-prime exons of TACSTD1. Nature Genet. 41: 112-117, 2009. [PubMed: 19098912] [Full Text: https://doi.org/10.1038/ng.283]

  34. Lishanski, A., Ostrander, E. A., Rine, J. Mutation detection by mismatch binding protein, MutS, in amplified DNA: application to the cystic fibrosis gene. Proc. Nat. Acad. Sci. 91: 2674-2678, 1994. [PubMed: 7511817] [Full Text: https://doi.org/10.1073/pnas.91.7.2674]

  35. Liu, B., Parsons, R. E., Hamilton, S. R., Petersen, G. M., Lynch, H. T., Watson, P., Markowitz, S., Willson, J. K. V., Green, J., de la Chapelle, A., Kinzler, K. W., Vogelstein, B. hMSH2 mutations in hereditary nonpolyposis colorectal cancer kindreds. Cancer Res. 54: 4590-4594, 1994. [PubMed: 8062247]

  36. Liu, T., Stathopoulos, P., Lindblom, P., Rubio, C., Wasteson Arver, B., Iselius, L., Holmberg, E., Gronberg, H., Lindblom, A. MSH2 codon 322 gly to asp seems not to confer an increased risk for colorectal cancer susceptibility. (Letter) Europ. J. Cancer 34: 1981 only, 1998. [PubMed: 10023327] [Full Text: https://doi.org/10.1016/s0959-8049(98)00217-2]

  37. Lowsky, R., DeCoteau, J. F., Reitmair, A. H., Ichinohasama, R., Dong, W.-F., Xu, Y., Mak, T. W., Kadin, M. E., Minden, M. D. Defects of the mismatch repair gene MSH2 are implicated in the development of murine and human lymphoblastic lymphomas and are associated with the aberrant expression of rhombotin-2 (Lmo-2) and Tal-1 (SCL). Blood 89: 2276-2282, 1997. [PubMed: 9116269]

  38. Lynch, H. T., Coronel, S. M., Okimoto, R., Hampel, H., Sweet, K., Lynch, J. F., Barrows, A., Wijnen, J., van der Klift, H., Franken, P., Wagner, A., Fodde, R., de la Chapelle, A. A founder mutation of the MSH2 gene and hereditary nonpolyposis colorectal cancer in the United States. JAMA 291: 718-724, 2004. [PubMed: 14871915] [Full Text: https://doi.org/10.1001/jama.291.6.718]

  39. Maliaka, Y. K., Chudina, A. P., Belev, N. F., Alday, P., Bochkov, N. P., Buerstedde, J.-M. CpG dinucleotides in the hMSH2 and hMLH1 genes are hotspots for HNPCC mutations. Hum. Genet. 97: 251-255, 1996. [PubMed: 8566964] [Full Text: https://doi.org/10.1007/BF02265276]

  40. Mangold, E., Pagenstecher, C., Leister, M., Mathiak, M., Rutten, A., Friedl, W., Propping, P., Ruzicka, T., Kruse, R. A genotype-phenotype correlation in HNPCC: strong predominance of msh2 mutations in 41 patients with Muir-Torre syndrome. (Letter) J. Med. Genet. 41: 567-572, 2004. [PubMed: 15235030] [Full Text: https://doi.org/10.1136/jmg.2003.012997]

  41. Mary, J.-L., Bishop, T., Kolodner, R., Lipford, J. R., Kane, M., Weber, W., Torhorst, J., Muller, H., Spycher, M., Scott, R. J. Mutational analysis of the hMSH2 gene reveals a three base pair deletion in a family predisposed to colorectal cancer development. Hum. Molec. Genet. 3: 2067-2069, 1994. [PubMed: 7874129]

  42. McMurray, C. T., Tainer, J. A. Cancer, cadmium and genome integrity. Nature Genet. 34: 239-241, 2003. [PubMed: 12833042] [Full Text: https://doi.org/10.1038/ng0703-239]

  43. Muller, A., Schackert, H. K., Lange, B., Ruschoff, J., Fuzesi, L., Willert, J., Burfeind, P., Shah, P., Becker, H., Epplen, J. T., Stemmler, S. A novel MSH2 germline mutation in homozygous state in two brothers with colorectal cancers diagnosed at the age of 11 and 12 years. Am. J. Med. Genet. 140A: 195-199, 2006. [PubMed: 16372347] [Full Text: https://doi.org/10.1002/ajmg.a.31070]

  44. Ni, T. T., Marsischky, G. T., Kolodner, R. D. MSH2 and MSH6 are required for removal of adenine misincorporated opposite 8-oxo-guanine in S. cerevisiae. Molec. Cell 4: 439-444, 1999. [PubMed: 10518225] [Full Text: https://doi.org/10.1016/s1097-2765(00)80346-9]

  45. Obmolova, G., Ban, C., Hsieh, P., Yang, W. Crystal structures of mismatch repair protein MutS and its complex with a substrate DNA. Nature 407: 703-710, 2000. [PubMed: 11048710] [Full Text: https://doi.org/10.1038/35037509]

  46. Orth, K., Hung, J., Gazdar, A., Bowcock, A., Mathis, J. M., Sambrook, J. Genetic instability in human ovarian cancer cell lines. Proc. Nat. Acad. Sci. 91: 9495-9499, 1994. [PubMed: 7937795] [Full Text: https://doi.org/10.1073/pnas.91.20.9495]

  47. Pagenstecher, C., Wehner, M., Friedl, W., Rahner, N., Aretz, S., Friedrichs, N., Sengteller, M., Henn, W., Buettner, R., Propping, P., Mangold, E. Aberrant splicing in MLH1 and MSH2 due to exonic and intronic variants. Hum. Genet. 119: 9-22, 2006. [PubMed: 16341550] [Full Text: https://doi.org/10.1007/s00439-005-0107-8]

  48. Pearson, C. E., Ewel, A., Acharya, S., Fishel, R. A., Sinden, R. R. Human MSH2 binds to trinucleotide repeat DNA structures associated with neurodegenerative diseases. Hum. Molec. Genet. 6: 1117-1123, 1997. [PubMed: 9215683] [Full Text: https://doi.org/10.1093/hmg/6.7.1117]

  49. Peltomaki, P., Aaltonen, L. A., Sistonen, P., Pylkkanen, L., Mecklin, J.-P., Jarvinen, H., Green, J. S., Jass, J. R., Weber, J. L., Leach, F. S., Petersen, G. M., Hamilton, S. R., de la Chapelle, A., Vogelstein, B. Genetic mapping of a locus predisposing to human colorectal cancer. Science 260: 810-812, 1993. [PubMed: 8484120] [Full Text: https://doi.org/10.1126/science.8484120]

  50. Pinheiro, M., Pinto, C., Peixoto, A., Veiga, I., Mesquita, B., Henrique, R., Lopes, P., Sousa, O., Fragoso, M., Dias, L. M., Baptista, M., Marinho, C., Mangold, E., Vaccaro, C., Evans, D. G., Farrington, S., Dunlop, M. G., Teixeira, M. R. The MSH2 c.388_389del mutation shows a founder effect in Portuguese Lynch syndrome families. Clin. Genet. 84: 244-250, 2013. [PubMed: 23170986] [Full Text: https://doi.org/10.1111/cge.12062]

  51. Pyatt, R. E., Nakagawa, H., Hampel, H., Sedra, M., Fuchik, M. B., Comeras, I., de la Chapelle, A., Prior, T. W. Identification of a deletion in the mismatch repair gene, MSH2, using mouse-human cell hybrids monosomal for chromosome 2. Clin. Genet. 63: 215-218, 2003. [PubMed: 12694232] [Full Text: https://doi.org/10.1034/j.1399-0004.2003.00040.x]

  52. Quehenberger, F., Vasen, H. F. A., van Houwelingen, H. C. Risk of colorectal and endometrial cancer for carriers of mutations of the hMLH1 and hMSH2 gene: correction for ascertainment. J. Med. Genet. 42: 491-496, 2005. [PubMed: 15937084] [Full Text: https://doi.org/10.1136/jmg.2004.024299]

  53. Reitmair, A. H., Schmits, R., Ewel, A., Bapat, B., Redston, M., Mitri, A., Waterhouse, P., Mittrucker, H.-W., Wakeham, A., Liu, B., Thomason, A., Griesser, H., Gallinger, S., Ballhausen, W. G., Fishel, R., Mak, T. W. MSH2 deficient mice are viable and susceptible to lymphoid tumours. Nature Genet. 11: 64-70, 1995. [PubMed: 7550317] [Full Text: https://doi.org/10.1038/ng0995-64]

  54. Ricciardone, M. D., Ozcelik, T., Cevher, B., Ozdag, H., Tuncer, M., Gurgey, A., Uzunalimoglu, O., Cetinkaya, H., Tanyeli, A., Erken, E., Ozturk, M. Human MLH1 deficiency predisposes to hematological malignancy and neurofibromatosis type 1. Cancer Res. 59: 290-293, 1999. [PubMed: 9927033]

  55. Stella, A., Surdo, N. C., Lastella, P., Barana, D., Oliani, C., Tibiletti, M. G., Viel, A., Natale, C., Piepoli, A., Marra, G., Guanti, G. Germline novel MSH2 deletions and a founder MSH2 deletion associated with anticipation effects in HNPCC. Clin. Genet. 71: 130-139, 2007. [PubMed: 17250661] [Full Text: https://doi.org/10.1111/j.1399-0004.2007.00745.x]

  56. Sun, S., Greenwood, C. M. T., Thiffault, I., Hamel, N., Chong, G., Foulkes, W. D. The HNPCC associated MSH2*1906G-C founder mutation probably originated between 1440 CE and 1715 CE in the Ashkenazi Jewish population. J. Med. Genet. 42: 766-768, 2005. [PubMed: 16199548] [Full Text: https://doi.org/10.1136/jmg.2005.030999]

  57. Tang, R., Hsiung, C., Wang, J.-Y., Lai, C.-H., Chien, H.-T., Chiu, L.-L., Liu, C.-T., Chen, H.-H., Wang, H.-M., Chen, S.-X., Hsieh, L.-L., the TCOG HNPCC Consortium. Germ line MLH1 and MSH2 mutations in Taiwanese Lynch syndrome families: characterization of a founder genomic mutation in the MLH1 gene. Clin. Genet. 75: 334-345, 2009. [PubMed: 19419416] [Full Text: https://doi.org/10.1111/j.1399-0004.2009.01162.x]

  58. Tournier, I., Vezain, M., Martins, A., Charbonnier, F., Baert-Desurmont, S., Olschwang, S., Wang, Q., Buisine, M. P., Soret, J., Tazi, J., Frebourg, T., Tosi, M. A large fraction of unclassified variants of the mismatch repair genes MLH1 and MSH2 is associated with splicing defects. Hum. Mutat. 29: 1412-1424, 2008. [PubMed: 18561205] [Full Text: https://doi.org/10.1002/humu.20796]

  59. Umar, A., Boyer, J. C., Thomas, D. C., Nguyen, D. C., Risinger, J. I., Boyd, J., Ionov, Y., Perucho, M., Kunkel, T. A. Defective mismatch repair in extracts of colorectal and endometrial cancer cell lines exhibiting microsatellite instability. J. Biol. Chem. 269: 14367-14370, 1994. [PubMed: 8182040]

  60. van der Klift, H., Wijnen, J., Wagner, A., Verkuilen, P., Tops, C., Otway, R., Kohonen-Corish, M., Vasen, H., Oliani, C., Barana, D., Moller, P., DeLozier-Blanchet, C., Hutter, P., Foulkes, W., Lynch, H., Burn, J., Moslein, G., Fodde, R. 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 44: 123-138, 2005. [PubMed: 15942939] [Full Text: https://doi.org/10.1002/gcc.20219]

  61. Vilkki, S., Tsao, J.-L., Loukola, A., Poyhonen, M., Vierimaa, O., Herva, R., Aaltonen, L. A., Shibata, D. Extensive somatic microsatellite mutations in normal human tissue. Cancer Res. 61: 4541-4544, 2001. [PubMed: 11389087]

  62. Wada-Hiraike, O., Yano, T., Nei, T., Matsumoto, Y., Nagasaka, K., Takizawa, S., Oishi, H., Arimoto, T., Nakagawa, S., Yasugi, T., Kato, S., Taketani, Y. The DNA mismatch repair gene hMSH2 is a potent coactivator of oestrogen receptor-alpha. Brit. J. Cancer 92: 2286-2291, 2005. [PubMed: 15886699] [Full Text: https://doi.org/10.1038/sj.bjc.6602614]

  63. Wagner, A., Barrows, A., Wijnen, J., van der Klift, H., Franken, P. F., Verkuijlen, P., Nakagawa, H., Geugien, M., Jaghmohan-Changur, S., Breukel, C., Meijers-Heijboer, H., Morreau, H., and 10 others. 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, 2003. [PubMed: 12658575] [Full Text: https://doi.org/10.1086/373963]

  64. Wagner, A., van der Klift, H., Franken, P., Wijnen, J., Breukel, C., Bezrookove, V., Smits, R., Kinarsky, Y., Barrows, A., Franklin, B., Lynch, J., Lynch, H., Fodde, R. A 10-Mb paracentric inversion of chromosome arm 2p inactivates MSH2 and is responsible for hereditary nonpolyposis colorectal cancer in a North-American kindred. Genes Chromosomes Cancer 35: 49-57, 2002. [PubMed: 12203789] [Full Text: https://doi.org/10.1002/gcc.10094]

  65. Wang, Q., Lasset, C., Desseigne, F., Frappaz, D., Bergeron, C., Navarro, C., Ruano, E., Puisieux, A. Neurofibromatosis and early onset of cancers in hMLH1-deficient children. Cancer Res. 59: 294-297, 1999. [PubMed: 9927034]

  66. Wang, Y., Cortez, D., Yazdi, P., Neff, N., Elledge, S. J., Qin, J. BASC, a super complex of BRCA1-associated proteins involved in the recognition and repair of aberrant DNA structures. Genes Dev. 14: 927-939, 2000. [PubMed: 10783165]

  67. Wang, Y., Friedl, W., Sengteller, M., Jungck, M., Filges, I., Propping, P., Mangold, E. A modified multiplex PCR assay for detection of large deletions in MSH2 or MLH1. Hum. Mutat. 19: 279-286, 2002. [PubMed: 11857745] [Full Text: https://doi.org/10.1002/humu.10042]

  68. Warthin, A. S. Heredity with reference to carcinoma. Arch. Intern. Med. 12: 546-555, 1913.

  69. Wheeler, V. C., Lebel, L.-A., Vrbanac, V., Teed, A., te Riele, H., MacDonald, M. E. Mismatch repair gene Msh2 modifies the timing of early disease in Hdh(Q111) striatum. Hum. Molec. Genet. 12: 273-281, 2003. [PubMed: 12554681] [Full Text: https://doi.org/10.1093/hmg/ddg056]

  70. Whiteside, D., McLeod, R., Graham, G., Steckley, J. L., Booth, K., Somerville, M. J., Andrew, S. E. A homozygous germ-line mutation in the human MSH2 gene predisposes to hematological malignancy and multiple cafe-au-lait spots. Cancer Res. 62: 359-362, 2002. [PubMed: 11809679]

  71. Wijnen, J., Vasen, H., Khan, P. M., Menko, F. H., van der Klift, H., van Leeuwen, C., van den Broek, M., van Leeuwen-Cornelisse, I., Nagengast, F., Meijers-Heijboer, A., Lindhout, D., Griffioen, G., Cats, A., Kleibeuker, J., Varesco, L., Bertario, L., Bisgaard, M. L., Mohr, J., Fodde, R. Seven new mutations in hMSH2, an HNPCC gene, identified by denaturing gradient-gel electrophoresis. Am. J. Hum. Genet. 56: 1060-1066, 1995. [PubMed: 7726159]

  72. Yan, H., Papadopoulos, N., Marra, G., Perrera, C., Jiricny, J., Boland, C. R., Lynch, H. T., Chadwick, R. B., de la Chapelle, A., Berg, K., Eshleman, J. R., Yuan, W., Markowitz, S., Laken, S. J., Lengauer, C., Kinzler, K. W., Vogelstein, B. Conversion of diploidy to haploidy. Nature 403: 723-724, 2000. [PubMed: 10693791] [Full Text: https://doi.org/10.1038/35001659]

  73. Yuan, Z. Q., Wong, N., Foulkes, W. D., Alpert, L., Manganaro, F., Andreutti-Zaugg, C., Iggo, R., Anthony, K., Hsieh, E., Redston, M., Pinsky, L., Trifiro, M., Gordon, P. H., Lasko, D. A missense mutation in both hMSH2 and APC in an Ashkenazi Jewish HNPCC kindred: implications for clinical screening. J. Med. Genet. 36: 790-793, 1999. [PubMed: 10528862] [Full Text: https://doi.org/10.1136/jmg.36.10.792]