Lynch or Not Lynch? Is that Always a Question?

Advances in Cancer Research

Volumn 113, Issue , 2012, Pages 121-166

  Colas, Chrystelle ^a,b,c   Coulet, Florence ^b,c   Svrcek, Magali ^a,b,d   Collura, Ada ^a,b   Fléjou, Jean François ^a,b,d   Duval, Alex ^a,b   Hamelin, Richard ^a,b  

^a CENTRE DE RECHERCHE SAINT ANTOINE   (France)

^b SORBONNE UNIVERSITÉ   (France)

^c ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

^d HÔPITAL SAINT ANTOINE   (France)

Author keywords

CRC; HNPCC; Lynch; MMR; MSI

Indexed keywords

REPETITIVE DNA;

ARTICLE; CARCINOGENESIS; CHROMOENDOSCOPY; COLONOSCOPY; COLORECTAL CANCER; CROHN DISEASE; DIFFERENTIAL DIAGNOSIS; DISEASE PREDISPOSITION; DISEASE SURVEILLANCE; DNA SEQUENCE; ENDOMETRIUM BIOPSY; FALSE NEGATIVE RESULT; FALSE POSITIVE RESULT; GENE MUTATION; GENETIC ANALYSIS; GERM LINE; HEREDITARY NONPOLYPOSIS COLORECTAL CANCER; HUMAN; MICROSATELLITE INSTABILITY; MISMATCH REPAIR; MUIR TORRE SYNDROME; PHENOTYPE; PRIORITY JOURNAL; TUMOR GROWTH; TURCOT SYNDROME; ULCERATIVE COLITIS; ULTRASOUND;

EID: 84858432942     PISSN: 0065230X     EISSN: None     Source Type: Book Series    
DOI: 10.1016/B978-0-12-394280-7.00004-X     Document Type: Chapter

References (241)

1. Aaltonen L.A., Peltomaki P., Leach F.S., Sistonen P., Pylkkanen L., Mecklin J.P., Jarvinen H., Powell S.M., Jen J., Hamilton S.R., et al. Clues to the pathogenesis of familial colorectal cancer. Science (New York, NY) 1993, 260:812-816.
2. Aaltonen L.A., Salovaara R., Kristo P., Canzian F., Hemminki A., Peltomaki P., Chadwick R.B., Kaariainen H., Eskelinen M., Jarvinen H., Mecklin J.P., de la Chapelle A. Incidence of hereditary nonpolyposis colorectal cancer and the feasibility of molecular screening for the disease. N. Engl. J. Med. 1998, 338:1481-1487.
3. Aarnio M., Sankila R., Pukkala E., Salovaara R., Aaltonen L.A., de la Chapelle A., Peltomaki P., Mecklin J.P., Jarvinen H.J. Cancer risk in mutation carriers of DNA-mismatch-repair genes. Int. J. Cancer 1999, 81:214-218.
4. Agostini M., Tibiletti M.G., Lucci-Cordisco E., Chiaravalli A., Morreau H., Furlan D., Boccuto L., Pucciarelli S., Capella C., Boiocchi M., Viel A. Two PMS2 mutations in a Turcot syndrome family with small bowel cancers. Am. J. Gastroenterol. 2005, 100:1886-1891.
5. Anczukow O., Ware M.D., Buisson M., Zetoune A.B., Stoppa-Lyonnet D., Sinilnikova O.M., Mazoyer S. Does the nonsense-mediated mRNA decay mechanism prevent the synthesis of truncated BRCA1, CHK2, and p53 proteins?. Hum. Mutat. 2008, 29:65-73.
6. Arnold S., Buchanan D.D., Barker M., Jaskowski L., Walsh M.D., Birney G., Woods M.O., Hopper J.L., Jenkins M.A., Brown M.A., Tavtigian S.V., Goldgar D.E., et al. Classifying MLH1 and MSH2 variants using bioinformatic prediction, splicing assays, segregation, and tumor characteristics. Hum. Mutat. 2009, 30:757-770.
7. Baglietto L., Lindor N.M., Dowty J.G., White D.M., Wagner A., Gomez Garcia E.B., Vriends A.H., Cartwright N.R., Barnetson R.A., Farrington S.M., Tenesa A., Hampel H., et al. Risks of Lynch syndrome cancers for MSH6 mutation carriers. J. Natl. Cancer Inst. 2010, 102:193-201.
8. Balmana J., Stockwell D.H., Steyerberg E.W., Stoffel E.M., Deffenbaugh A.M., Reid J.E., Ward B., Scholl T., Hendrickson B., Tazelaar J., Burbidge L.A., Syngal S. Prediction of MLH1 and MSH2 mutations in Lynch syndrome. JAMA 2006, 296:1469-1478.
9. Bao F., Panarelli N.C., Rennert H., Sherr D.L., Yantiss R.K. Neoadjuvant therapy induces loss of MSH6 expression in colorectal carcinoma. Am. J. Surg. Pathol. 2010, 34:1798-1804.
10. Bapat B., Lindor N.M., Baron J., Siegmund K., Li L., Zheng Y., Haile R., Gallinger S., Jass J.R., Young J.P., Cotterchio M., Jenkins M., et al. The association of tumor microsatellite instability phenotype with family history of colorectal cancer. Cancer Epidemiol. Biomarkers Prev. 2009, 18:967-975.
11. 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. N. Engl. J. Med. 2006, 354:2751-2763.
12. Barrow E., Jagger E., Brierley J., Wallace A., Evans G., Hill J., McMahon R. Semiquantitative assessment of immunohistochemistry for mismatch repair proteins in Lynch syndrome. Histopathology 2010, 56:331-344.
13. Beck N.E., Tomlinson I.P., Homfray T., Frayling I., Hodgson S.V., Harocopos C., Bodmer W.F. Use of SSCP analysis to identify germline mutations in HNPCC families fulfilling the Amsterdam criteria. Hum. Genet. 1997, 99:219-224.
14. Beroud C., Hamroun D., Collod-Beroud G., Boileau C., Soussi T., Claustres M. UMD (Universal Mutation Database): 2005 update. Hum. Mutat. 2005, 26:184-191.
15. Bisgaard M.L., Fenger K., Bulow S., Niebuhr E., Mohr J. Familial adenomatous polyposis (FAP): frequency, penetrance, and mutation rate. Hum. Mutat. 1994, 3:121-125.
16. Bisgaard M.L., Jager A.C., Myrhoj T., Bernstein I., Nielsen F.C. Hereditary non-polyposis colorectal cancer (HNPCC): phenotype-genotype correlation between patients with and without identified mutation. Hum. Mutat. 2002, 20:20-27.
17. Boland C.R., Thibodeau S.N., Hamilton S.R., Sidransky D., Eshleman J.R., Burt R.W., Meltzer S.J., Rodriguez-Bigas M.A., Fodde R., Ranzani G.N., Srivastava S. A National Cancer Institute Workshop on Microsatellite Instability for cancer detection and familial predisposition: development of international criteria for the determination of microsatellite instability in colorectal cancer. Cancer Res. 1998, 58:5248-5257.
18. Boland C.R., Koi M., Chang D.K., Carethers J.M. 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.
19. Borie C., Colas C., Dartigues P., Lazure T., Rince P., Buhard O., Folliot P., Chalastanis A., Muleris M., Hamelin R., Mercier D., Oliveira C., et al. The mechanisms underlying MMR deficiency in immunodeficiency-related non-Hodgkin lymphomas are different from those in other sporadic microsatellite instable neoplasms. Int. J. Cancer 2009, 125:2360-2366.
20. Brennetot C., Buhard O., Jourdan F., Flejou J.F., Duval A., Hamelin R. Mononucleotide repeats BAT-26 and BAT-25 accurately detect MSI-H tumors and predict tumor content: implications for population screening. Int. J. Cancer 2005, 113:446-450.
21. 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.
22. Buhard O., Suraweera N., Lectard A., Duval A., Hamelin R. Quasimonomorphic mononucleotide repeats for high-level microsatellite instability analysis. Dis. Markers 2004, 20:251-257.
23. Buhard O., Cattaneo F., Wong Y.F., Yim S.F., Friedman E., Flejou J.F., Duval A., Hamelin R. Multipopulation analysis of polymorphisms in five mononucleotide repeats used to determine the microsatellite instability status of human tumors. J. Clin. Oncol. 2006, 24:241-251.
24. Caldes T., Godino J., de la Hoya M., Garcia Carbonero I., Perez Segura P., Eng C., Benito M., Diaz-Rubio E. Prevalence of germline mutations of MLH1 and MSH2 in hereditary nonpolyposis colorectal cancer families from Spain. Int. J. Cancer 2002, 98:774-779.
25. Canard G., Lefevre J.H., Colas C., Coulet F., Svrcek M., Lascols O., Hamelin R., Shields C., Duval A., Fléjou J.F., Soubrier F., Tiret E. Screening for Lynch syndrome in colorectal cancer: are we doing enough?. Ann. Surg. Oncol. 2011, Epub ahead of print.
26. Capel E., Flejou J.F., Hamelin R. Assessment of MLH1 promoter methylation in relation to gene expression requires specific analysis. Oncogene 2007, 26:7596-7600.
27. Castells A., Balaguer F., Castellvi-Bel S., Gonzalo V., Ocana T. Identification of Lynch syndrome: how should we proceed in the 21st century?. World J. Gastroenterol. 2007, 13:4413-4416.
28. Charbonnier F., Raux G., Wang Q., Drouot N., Cordier F., Limacher J.M., Saurin J.C., Puisieux A., Olschwang S., Frebourg T. Detection of exon deletions and duplications of the mismatch repair genes in hereditary nonpolyposis colorectal cancer families using multiplex polymerase chain reaction of short fluorescent fragments. Cancer Res. 2000, 60:2760-2763.
29. Chen S., Wang W., Lee S., Nafa K., Lee J., Romans K., Watson P., Gruber S.B., Euhus D., Kinzler K.W., Jass J., Gallinger S., et al. Prediction of germline mutations and cancer risk in the Lynch syndrome. JAMA 2006, 296:1479-1487.
30. Chen J.R., Chiang J.M., Changchien C.R., Chen J.S., Tang R.P., Wang J.Y. Mismatch repair protein expression in Amsterdam II criteria-positive patients in Taiwan. Br. J. Surg. 2008, 95:102-110.
31. Choi Y.H., Cotterchio M., McKeown-Eyssen G., Neerav M., Bapat B., Boyd K., Gallinger S., McLaughlin J., Aronson M., Briollais L. Penetrance of colorectal cancer among MLH1/MSH2 carriers participating in the colorectal cancer familial registry in Ontario. Hered. Cancer Clin. Pract. 2009, 7:14.
32. Cottu P.H., Muzeau F., Estreicher A., Flejou J.F., Iggo R., Thomas G., Hamelin R. Inverse correlation between RER+ status and p53 mutation in colorectal cancer cell lines. Oncogene 1996, 13:2727-2730.
33. 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., et al. The frequency of hereditary defective mismatch repair in a prospective series of unselected colorectal carcinomas. Am. J. Hum. Genet. 2001, 69:780-790.
34. Davies H., Bignell G.R., Cox C., Stephens P., Edkins S., Clegg S., Teague J., Woffendin H., Garnett M.J., Bottomley W., Davis N., Dicks E., et al. Mutations of the BRAF gene in human cancer. Nature 2002, 417:949-954.
35. de Jong A.E., Hendriks Y.M., Kleibeuker J.H., de Boer S.Y., Cats A., Griffioen G., Nagengast F.M., Nelis F.G., Rookus M.A., Vasen H.F. Decrease in mortality in Lynch syndrome families because of surveillance. Gastroenterology 2006, 130:665-671.
36. de la Chapelle A., Hampel H. Clinical relevance of microsatellite instability in colorectal cancer. J. Clin. Oncol. 2010, 28:3380-3387.
37. De Rosa M., Fasano C., Panariello L., Scarano M.I., Belli G., Iannelli A., Ciciliano F., Izzo P. Evidence for a recessive inheritance of Turcot's syndrome caused by compound heterozygous mutations within the PMS2 gene. Oncogene 2000, 19:1719-1723.
38. De Vos M., Hayward B.E., Charlton R., Taylor G.R., Glaser A.W., Picton S., Cole T.R., Maher E.R., McKeown C.M., Mann J.R., Yates J.R., Baralle D., et al. PMS2 mutations in childhood cancer. J. Natl. Cancer Inst. 2006, 98:358-361.
39. Deng G., Chen A., Hong J., Chae H.S., Kim Y.S. Methylation of CpG in a small region of the hMLH1 promoter invariably correlates with the absence of gene expression. Cancer Res. 1999, 59:2029-2033.
40. Desai D.C., Lockman J.C., Chadwick R.B., Gao X., Percesepe A., Evans D.G., 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. 2000, 37:646-652.
41. Dinh T.A., Rosner B.I., Atwood J.C., Boland C.R., Syngal S., Vasen H.F., Gruber S.B., Burt R.W. Health benefits and cost-effectiveness of primary genetic screening for Lynch syndrome in the general population. Cancer Prev. Res. (Phila.) 2011, 4:9-22.
42. Domingo E., Laiho P., Ollikainen M., Pinto M., Wang L., French A.J., Westra J., Frebourg T., Espin E., Armengol M., Hamelin R., Yamamoto H., et al. BRAF screening as a low-cost effective strategy for simplifying HNPCC genetic testing. J. Med. Genet. 2004, 41:664-668.
43. Dove-Edwin I., de Jong A.E., Adams J., Mesher D., Lipton L., Sasieni P., Vasen H.F., Thomas H.J. Prospective results of surveillance colonoscopy in dominant familial colorectal cancer with and without Lynch syndrome. Gastroenterology 2006, 130:1995-2000.
44. 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.
45. Durno C.A., Holter S., Sherman P.M., Gallinger S. The gastrointestinal phenotype of germline biallelic mismatch repair gene mutations. Am. J. Gastroenterol. 2010, 105:2449-2456.
46. Duval A., Hamelin R. Mutations at coding repeat sequences in mismatch repair-deficient human cancers: toward a new concept of target genes for instability. Cancer Res. 2002, 62:2447-2454.
47. Duval A., Gayet J., Zhou X.P., Iacopetta B., Thomas G., Hamelin R. Frequent frameshift mutations of the TCF-4 gene in colorectal cancers with microsatellite instability. Cancer Res. 1999, 59:4213-4215.
48. Duval A., Reperant M., Compoint A., Seruca R., Ranzani G.N., Iacopetta B., Hamelin R. Target gene mutation profile differs between gastrointestinal and endometrial tumors with mismatch repair deficiency. Cancer Res. 2002, 62:1609-1612.
49. Duval A., Raphael M., Brennetot C., Poirel H., Buhard O., Aubry A., Martin A., Krimi A., Leblond V., Gabarre J., Davi F., Charlotte F., et al. The mutator pathway is a feature of immunodeficiency-related lymphomas. Proc. Natl. Acad. Sci. U.S.A. 2004, 101:5002-5007.
50. Ekbom A., Helmick C., Zack M., Adami H.O. Ulcerative colitis and colorectal cancer. A population-based study. N. Engl. J. Med. 1990, 323:1228-1233.
51. El-Bchiri J., Guilloux A., Dartigues P., Loire E., Mercier D., Buhard O., Sobhani I., de la Grange P., Auboeuf D., Praz F., Flejou J.F., Duval A. Nonsense-mediated mRNA decay impacts MSI-driven carcinogenesis and anti-tumor immunity in colorectal cancers. PLoS One 2008, 3:e2583.
52. Fallik D., Borrini F., Boige V., Viguier J., Jacob S., Miquel C., Sabourin J.C., Ducreux M., Praz F. Microsatellite instability is a predictive factor of the tumor response to irinotecan in patients with advanced colorectal cancer. Cancer Res. 2003, 63:5738-5744.
53. Fearon E.R., Vogelstein B. A genetic model for colorectal tumorigenesis. Cell 1990, 61:759-767.
54. Felton K.E., Gilchrist D.M., Andrew S.E. Constitutive deficiency in DNA mismatch repair. Clin. Genet. 2007, 71:483-498.
55. 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.
56. Fleisher A.S., Esteller M., Harpaz N., Leytin A., Rashid A., Xu Y., Liang J., Stine O.C., Yin J., Zou T.T., Abraham J.M., Kong D., et al. Microsatellite instability in inflammatory bowel disease-associated neoplastic lesions is associated with hypermethylation and diminished expression of the DNA mismatch repair gene, hMLH1. Cancer Res. 2000, 60:4864-4868.
57. 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., et al. The founder mutation MSH2*1906G->C is an important cause of hereditary nonpolyposis colorectal cancer in the Ashkenazi Jewish population. Am. J. Hum. Genet. 2002, 71:1395-1412.
58. Froggatt N.J., Green J., Brassett C., Evans D.G., 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. 1999, 36:97-102.
59. Fujiwara I., Yashiro M., Kubo N., Maeda K., Hirakawa K. Ulcerative colitis-associated colorectal cancer is frequently associated with the microsatellite instability pathway. Dis. Colon Rectum 2008, 51:1387-1394.
60. Gammie A.E., Erdeniz N., Beaver J., Devlin B., Nanji A., Rose M.D. Functional characterization of pathogenic human MSH2 missense mutations in Saccharomyces cerevisiae. Genetics 2007, 177:707-721.
61. Gazzoli I., Loda M., Garber J., Syngal S., Kolodner R.D. A hereditary nonpolyposis colorectal carcinoma case associated with hypermethylation of the MLH1 gene in normal tissue and loss of heterozygosity of the unmethylated allele in the resulting microsatellite instability-high tumor. Cancer Res. 2002, 62:3925-3928.
62. Geary J., Sasieni P., Houlston R., Izatt L., Eeles R., Payne S.J., Fisher S., Hodgson S.V. Gene-related cancer spectrum in families with hereditary non-polyposis colorectal cancer (HNPCC). Fam. Cancer 2008, 7:163-172.
63. Gerritzen L.H., Hoogerbrugge N., Oei A.L., Nagengast F.M., van Ham M.A., Massuger L.F., de Hullu J.A. Improvement of endometrial biopsy over transvaginal ultrasound alone for endometrial surveillance in women with Lynch syndrome. Fam. Cancer 2009, 8:391-397.
64. Giannini G., Rinaldi C., Ristori E., Ambrosini M.I., Cerignoli F., Viel A., Bidoli E., Berni S., D'Amati G., Scambia G., Frati L., Screpanti I., et al. Mutations of an intronic repeat induce impaired MRE11 expression in primary human cancer with microsatellite instability. Oncogene 2004, 23:2640-2647.
65. Giardiello F.M., Brensinger J.D., Petersen G.M. AGA technical review on hereditary colorectal cancer and genetic testing. Gastroenterology 2001, 121:198-213.
66. Gillen C.D., Andrews H.A., Prior P., Allan R.N. Crohn's disease and colorectal cancer. Gut 1994, 35:651-655.
67. Gillen C.D., Walmsley R.S., Prior P., Andrews H.A., Allan R.N. Ulcerative colitis and Crohn's disease: a comparison of the colorectal cancer risk in extensive colitis. Gut 1994, 35:1590-1592.
68. Goecke T., Schulmann K., Engel C., Holinski-Feder E., Pagenstecher C., Schackert H.K., Kloor M., Kunstmann E., Vogelsang H., Keller G., Dietmaier W., Mangold E., et al. Genotype-phenotype comparison of German MLH1 and MSH2 mutation carriers clinically affected with Lynch syndrome: a report by the German HNPCC Consortium. J. Clin. Oncol. 2006, 24:4285-4292.
69. Goel A., Nagasaka T., Arnold C.N., Inoue T., Hamilton C., Niedzwiecki D., Compton C., Mayer R.J., Goldberg R., Bertagnolli M.M., Boland C.R. The CpG island methylator phenotype and chromosomal instability are inversely correlated in sporadic colorectal cancer. Gastroenterology 2007, 132:127-138.
70. Goel A., Nagasaka T., Hamelin R., Boland C.R. An optimized pentaplex PCR for detecting DNA mismatch repair-deficient colorectal cancers. PLoS One 2010, 5:e9393.
71. Grabowski M., Mueller-Koch Y., Grasbon-Frodl E., Koehler U., Keller G., Vogelsang H., Dietmaier W., Kopp R., Siebers U., Schmitt W., Neitzel B., Gruber M., et al. Deletions account for 17% of pathogenic germline alterations in MLH1 and MSH2 in hereditary nonpolyposis colorectal cancer (HNPCC) families. Genet. Test. 2005, 9:138-146.
72. Green R.C., Parfrey P.S., Woods M.O., Younghusband H.B. Prediction of Lynch syndrome in consecutive patients with colorectal cancer. J. Natl. Cancer Inst. 2009, 101:331-340.
73. Greenson J.K., Huang S.C., Herron C., Moreno V., Bonner J.D., Tomsho L.P., Ben-Izhak O., Cohen H.I., Trougouboff P., Bejhar J., Sova Y., Pinchev M., et al. Pathologic predictors of microsatellite instability in colorectal cancer. Am. J. Surg. Pathol. 2009, 33:126-133.
74. Hall G., Clarkson A., Shi A., Langford E., Leung H., Eckstein R.P., Gill A.J. Immunohistochemistry for PMS2 and MSH6 alone can replace a four antibody panel for mismatch repair deficiency screening in colorectal adenocarcinoma. Pathology 2010, 42:409-413.
75. Hamilton S.R., Liu B., Parsons R.E., Papadopoulos N., Jen J., Powell S.M., Krush A.J., Berk T., Cohen Z., Tetu B., et al. The molecular basis of Turcot's syndrome. N. Engl. J. Med. 1995, 332:839-847.
76. Hampel H., de la Chapelle A. The search for unaffected individuals with Lynch syndrome: do the ends justify the means?. Cancer Prev. Res. (Phila.) 2011, 4:1-5.
77. Hampel H., Frankel W.L., Martin E., Arnold M., Khanduja K., Kuebler P., Nakagawa H., Sotamaa K., Prior T.W., Westman J., Panescu J., Fix D., et al. Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer). N. Engl. J. Med. 2005, 352:1851-1860.
78. Hampel H., Stephens J.A., Pukkala E., Sankila R., Aaltonen L.A., Mecklin J.P., de la Chapelle A. Cancer risk in hereditary nonpolyposis colorectal cancer syndrome: later age of onset. Gastroenterology 2005, 129:415-421.
79. Hampel H., Frankel W.L., Martin E., Arnold M., Khanduja K., Kuebler P., Clendenning M., Sotamaa K., Prior T., Westman J.A., Panescu J., Fix D., et al. Feasibility of screening for Lynch syndrome among patients with colorectal cancer. J. Clin. Oncol. 2008, 26:5783-5788.
80. Hegde M.R., Chong B., Blazo M.E., Chin L.H., Ward P.A., Chintagumpala M.M., Kim J.Y., Plon S.E., Richards C.S. A homozygous mutation in MSH6 causes Turcot syndrome. Clin. Cancer Res. 2005, 11:4689-4693.
81. 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., et al. Cancer risk in hereditary nonpolyposis colorectal cancer due to MSH6 mutations: impact on counseling and surveillance. Gastroenterology 2004, 127:17-25.
82. Hitchins M.P. Inheritance of epigenetic aberrations (constitutional epimutations) in cancer susceptibility. Adv. Genet. 2010, 70:201-243.
83. Hitchins M.P., Wong J.J., Suthers G., Suter C.M., Martin D.I., Hawkins N.J., Ward R.L. Inheritance of a cancer-associated MLH1 germ-line epimutation. N. Engl. J. Med. 2007, 356:697-705.
84. Hoang J.M., Cottu P.H., Thuille B., Salmon R.J., Thomas G., Hamelin R. BAT-26, an indicator of the replication error phenotype in colorectal cancers and cell lines. Cancer Res. 1997, 57:300-303.
85. Holinski-Feder E., Muller-Koch Y., Friedl W., Moeslein G., Keller G., Plaschke J., Ballhausen W., Gross M., Baldwin-Jedele K., Jungck M., Mangold E., Vogelsang H., et al. DHPLC mutation analysis of the hereditary nonpolyposis colon cancer (HNPCC) genes hMLH1 and hMSH2. J. Biochem. Biophys. Methods 2001, 47:21-32.
86. Hugo H., Cures A., Suraweera N., Drabsch Y., Purcell D., Mantamadiotis T., Phillips W., Dobrovic A., Zupi G., Gonda T.J., Iacopetta B., Ramsay R.G. Mutations in the MYB intron I regulatory sequence increase transcription in colon cancers. Genes Chromosomes Cancer 2006, 45:1143-1154.
87. Hyde A., Fontaine D., Stuckless S., Green R., Pollett A., Simms M., Sipahimalani P., Parfrey P., Younghusband B. A histology-based model for predicting microsatellite instability in colorectal cancers. Am. J. Surg. Pathol. 2010, 34:1820-1829.
88. Ionov Y., Peinado M.A., Malkhosyan S., Shibata D., Perucho M. Ubiquitous somatic mutations in simple repeated sequences reveal a new mechanism for colonic carcinogenesis. Nature 1993, 363:558-561.
89. Itzkowitz S.H., Harpaz N. Diagnosis and management of dysplasia in patients with inflammatory bowel diseases. Gastroenterology 2004, 126:1634-1648.
90. Jarvinen H.J., Aarnio M., Mustonen H., Aktan-Collan K., Aaltonen L.A., Peltomaki P., De La Chapelle A., Mecklin J.P. Controlled 15-year trial on screening for colorectal cancer in families with hereditary nonpolyposis colorectal cancer. Gastroenterology 2000, 118:829-834.
91. Jass J.R. HNPCC and sporadic MSI-H colorectal cancer: a review of the morphological similarities and differences. Fam. Cancer 2004, 3:93-100.
92. Jass J.R. Hereditary Non-Polyposis Colorectal Cancer: the rise and fall of a confusing term. World J. Gastroenterol. 2006, 12:4943-4950.
93. Jenkins M.A., Hayashi S., O'Shea A.M., Burgart L.J., Smyrk T.C., Shimizu D., Waring P.M., Ruszkiewicz A.R., Pollett A.F., Redston M., Barker M.A., Baron J.A., et al. Pathology features in Bethesda guidelines predict colorectal cancer microsatellite instability: a population-based study. Gastroenterology 2007, 133:48-56.
94. Julie C., Tresallet C., Brouquet A., Vallot C., Zimmermann U., Mitry E., Radvanyi F., Rouleau E., Lidereau R., Coulet F., Olschwang S., Frebourg T., et al. Identification in daily practice of patients with Lynch syndrome (hereditary nonpolyposis colorectal cancer): revised Bethesda guidelines-based approach versus molecular screening. Am. J. Gastroenterol. 2008, 103:2825-2835. quiz 2836.
95. 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.
96. Kariola R., Hampel H., Frankel W.L., Raevaara T.E., de la Chapelle A., Nystrom-Lahti M. MSH6 missense mutations are often associated with no or low cancer susceptibility. Br. J. Cancer 2004, 91:1287-1292.
97. Kastrinos F., Stoffel E.M., Balmana J., Steyerberg E.W., Mercado R., Syngal S. Phenotype comparison of MLH1 and MSH2 mutation carriers in a cohort of 1,914 individuals undergoing clinical genetic testing in the United States. Cancer Epidemiol. Biomarkers Prev. 2008, 17:2044-2051.
98. Katballe N., Christensen M., Wikman F.P., Orntoft T.F., Laurberg S. Frequency of hereditary non-polyposis colorectal cancer in Danish colorectal cancer patients. Gut 2002, 50:43-51.
99. Kempers M.J., Kuiper R.P., Ockeloen C.W., Chappuis P.O., Hutter P., Rahner N., Schackert H.K., Steinke V., Holinski-Feder E., Morak M., Kloor M., Buttner R., et al. Risk of colorectal and endometrial cancers in EPCAM deletion-positive Lynch syndrome: a cohort study. Lancet Oncol. 2011, 12:49-55.
100. Kim H., Jen J., Vogelstein B., Hamilton S.R. Clinical and pathological characteristics of sporadic colorectal carcinomas with DNA replication errors in microsatellite sequences. Am. J. Pathol. 1994, 145:148-156.
101. Klarskov L., Ladelund S., Holck S., Roenlund K., Lindebjerg J., Elebro J., Halvarsson B., von Salome J., Bernstein I., Nilbert M. Interobserver variability in the evaluation of mismatch repair protein immunostaining. Hum. Pathol. 2010, 41:1387-1396.
102. Knudson A.G. Two genetic hits (more or less) to cancer. Nat. Rev. Cancer 2001, 1:157-162.
103. Kohonen-Corish M., Ross V.L., Doe W.F., Kool D.A., Edkins E., Faragher I., Wijnen J., Khan P.M., Macrae F., St John D.J. RNA-based mutation screening in hereditary nonpolyposis colorectal cancer. Am. J. Hum. Genet. 1996, 59:818-824.
104. Koornstra J.J., Kleibeuker J.H., Vasen H.F. Small-bowel cancer in Lynch syndrome: is it time for surveillance?. Lancet Oncol. 2008, 9:901-905.
105. Kovacs M.E., Papp J., Szentirmay Z., Otto S., Olah E. Deletions removing the last exon of TACSTD1 constitute a distinct class of mutations predisposing to Lynch syndrome. Hum. Mutat. 2009, 30:197-203.
106. Kraus C., Kastl S., Gunther K., Klessinger S., Hohenberger W., Ballhausen W.G. A proven de novo germline mutation in HNPCC. J. Med. Genet. 1999, 36:919-921.
107. Kruger S., Kinzel M., Walldorf C., Gottschling S., Bier A., Tinschert S., von Stackelberg A., Henn W., Gorgens H., Boue S., Kolble K., Buttner R., et al. Homozygous PMS2 germline mutations in two families with early-onset haematological malignancy, brain tumours, HNPCC-associated tumours, and signs of neurofibromatosis type 1. Eur. J. Hum. Genet. 2008, 16:62-72.
108. Kuiper R.P., Vissers L.E., Venkatachalam R., Bodmer D., Hoenselaar E., Goossens M., Haufe A., Kamping E., Niessen R.C., Hogervorst F.B., Gille J.J., Redeker B., et al. Recurrence and variability of germline EPCAM deletions in Lynch syndrome. Hum. Mutat. 2011, 32:407-414.
109. Kumarasinghe A.P., de Boer B., Bateman A.C., Kumarasinghe M.P. DNA mismatch repair enzyme immunohistochemistry in colorectal cancer: a comparison of biopsy and resection material. Pathology 2010, 42:414-420.
110. Laghi L., Bianchi P., Malesci A. Differences and evolution of the methods for the assessment of microsatellite instability. Oncogene 2008, 27:6313-6321.
111. Laiho P., Launonen V., Lahermo P., Esteller M., Guo M., Herman J.G., Mecklin J.P., Jarvinen H., Sistonen P., Kim K.M., Shibata D., Houlston R.S., et al. Low-level microsatellite instability in most colorectal carcinomas. Cancer Res. 2002, 62:1166-1170.
112. Leach F.S., Nicolaides N.C., Papadopoulos N., Liu B., Jen J., Parsons R., Peltomaki P., Sistonen P., Aaltonen L.A., Nystrom-Lahti M., et al. Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer. Cell 1993, 75:1215-1225.
113. Leach F.S., Polyak K., Burrell M., Johnson K.A., Hill D., Dunlop M.G., Wyllie A.H., Peltomaki P., de la Chapelle A., Hamilton S.R., Kinzler K.W., Vogelstein B. Expression of the human mismatch repair gene hMSH2 in normal and neoplastic tissues. Cancer Res. 1996, 56:235-240.
114. Lecomte T., Cellier C., Meatchi T., Barbier J.P., Cugnenc P.H., Jian R., Laurent-Puig P., Landi B. Chromoendoscopic colonoscopy for detecting preneoplastic lesions in hereditary nonpolyposis colorectal cancer syndrome. Clin. Gastroenterol. Hepatol. 2005, 3:897-902.
115. Ligtenberg M.J., Kuiper R.P., Chan T.L., Goossens M., Hebeda K.M., Voorendt M., Lee T.Y., Bodmer D., Hoenselaar E., Hendriks-Cornelissen S.J., Tsui W.Y., Kong C.K., 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.
116. Lindblom A., Tannergard P., Werelius B., Nordenskjold M. Genetic mapping of a second locus predisposing to hereditary non-polyposis colon cancer. Nat. Genet. 1993, 5:279-282.
117. Lindor N.M., Rabe K., Petersen G.M., Haile R., Casey G., Baron J., Gallinger S., Bapat B., Aronson M., Hopper J., Jass J., LeMarchand L., et al. Lower cancer incidence in Amsterdam-I criteria families without mismatch repair deficiency: familial colorectal cancer type X. JAMA 2005, 293:1979-1985.
118. Lindor N.M., Petersen G.M., Hadley D.W., Kinney A.Y., Miesfeldt S., Lu K.H., Lynch P., Burke W., Press N. Recommendations for the care of individuals with an inherited predisposition to Lynch syndrome: a systematic review. JAMA 2006, 296:1507-1517.
119. Liu T. Mutational screening of hMLH1 and hMSH2 that confer inherited colorectal cancer susceptibility using denature gradient gel electrophoresis (DGGE). Methods Mol. Biol. (Clifton, NJ) 2010, 653:193-205.
120. Liu B., Parsons R., Papadopoulos N., Nicolaides N.C., Lynch H.T., Watson P., Jass J.R., Dunlop M., Wyllie A., Peltomaki P., de la Chapelle A., Hamilton S.R., et al. Analysis of mismatch repair genes in hereditary non-polyposis colorectal cancer patients. Nat. Med. 1996, 2:169-174.
121. Llor X., Pons E., Xicola R.M., Castells A., Alenda C., Pinol V., Andreu M., Castellvi-Bel S., Paya A., Jover R., Bessa X., Giros A., et al. Differential features of colorectal cancers fulfilling Amsterdam criteria without involvement of the mutator pathway. Clin. Cancer Res. 2005, 11:7304-7310.
122. Loukola A., Eklin K., Laiho P., Salovaara R., Kristo P., Jarvinen H., Mecklin J.P., Launonen V., Aaltonen L.A. Microsatellite marker analysis in screening for hereditary nonpolyposis colorectal cancer (HNPCC). Cancer Res. 2001, 61:4545-4549.
123. Lyda M.H., Noffsinger A., Belli J., Fenoglio-Preiser C.M. Microsatellite instability and K-ras mutations in patients with ulcerative colitis. Hum. Pathol. 2000, 31:665-671.
124. Lynch H.T., Lynch J.F. Lynch syndrome: history and current status. Dis. Markers 2004, 20:181-198.
125. 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.
126. Lynch H.T., Lynch P.M., Pester J., Fusaro R.M. The cancer family syndrome. Rare cutaneous phenotypic linkage of Torre's syndrome. Arch. Intern. Med. 1981, 141:607-611.
127. Lynch H.T., Watson P., Lanspa S.J., Marcus J., Smyrk T., Fitzgibbons R.J., Kriegler M., Lynch J.F. Natural history of colorectal cancer in hereditary nonpolyposis colorectal cancer (Lynch syndromes I and II). Dis. Colon Rectum 1988, 31:439-444.
128. Malkhosyan S., Rampino N., Yamamoto H., Perucho M. Frameshift mutator mutations. Nature 1996, 382:499-500.
129. Malkhosyan S.R., Yamamoto H., Piao Z., Perucho M. Late onset and high incidence of colon cancer of the mutator phenotype with hypermethylated hMLH1 gene in women. Gastroenterology 2000, 119:598.
130. Mangold E., Pagenstecher C., Friedl W., Fischer H.P., Merkelbach-Bruse S., Ohlendorf M., Friedrichs N., Aretz S., Buettner R., Propping P., Mathiak M. Tumours from MSH2 mutation carriers show loss of MSH2 expression but many tumours from MLH1 mutation carriers exhibit weak positive MLH1 staining. J. Pathol. 2005, 207:385-395.
131. Markowitz S., Wang J., Myeroff L., Parsons R., Sun L., Lutterbaugh J., Fan R.S., Zborowska E., Kinzler K.W., Vogelstein B., et al. Inactivation of the type II TGF-beta receptor in colon cancer cells with microsatellite instability. Science (New York, NY) 1995, 268:1336-1338.
132. Marroni F., Pastrello C., Benatti P., Torrini M., Barana D., Cordisco E.L., Viel A., Mareni C., Oliani C., Genuardi M., Bailey-Wilson J.E., Ponz de Leon M., et al. A genetic model for determining MSH2 and MLH1 carrier probabilities based on family history and tumor microsatellite instability. Clin. Genet. 2006, 69:254-262.
133. Melo S.A., Ropero S., Moutinho C., Aaltonen L.A., Yamamoto H., Calin G.A., Rossi S., Fernandez A.F., Carneiro F., Oliveira C., Ferreira B., Liu C.G., et al. A TARBP2 mutation in human cancer impairs microRNA processing and DICER1 function. Nat. Genet. 2009, 41:365-370.
134. Melo S.A., Moutinho C., Ropero S., Calin G.A., Rossi S., Spizzo R., Fernandez A.F., Davalos V., Villanueva A., Montoya G., Yamamoto H., Schwartz S., et al. A genetic defect in exportin-5 traps precursor microRNAs in the nucleus of cancer cells. Cancer Cell 2010, 18:303-315.
135. Mercader P. Muir-Torre syndrome. Adv. Exp. Med. Biol. 2010, 685:186-195.
136. Miyaki M., Nishio J., Konishi M., Kikuchi-Yanoshita R., Tanaka K., Muraoka M., Nagato M., Chong J.M., Koike M., Terada T., Kawahara Y., Fukutome A., et al. Drastic genetic instability of tumors and normal tissues in Turcot syndrome. Oncogene 1997, 15:2877-2881.
137. Morak M., Laner A., Scholz M., Madorf T., Holinski-Feder E. Report on de-novo mutation in the MSH2 gene as a rare event in hereditary nonpolyposis colorectal cancer. Eur. J. Gastroenterol. Hepatol. 2008, 20:1101-1105.
138. Morak M., Schackert H.K., Rahner N., Betz B., Ebert M., Walldorf C., Royer-Pokora B., Schulmann K., von Knebel-Doeberitz M., Dietmaier W., Keller G., Kerker B., et al. Further evidence for heritability of an epimutation in one of 12 cases with MLH1 promoter methylation in blood cells clinically displaying HNPCC. Eur. J. Hum. Genet. 2008, 16:804-811.
139. Mori Y., Yin J., Rashid A., Leggett B.A., Young J., Simms L., Kuehl P.M., Langenberg P., Meltzer S.J., Stine O.C. Instabilotyping: comprehensive identification of frameshift mutations caused by coding region microsatellite instability. Cancer Res. 2001, 61:6046-6049.
140. Muir E.G., Bell A.J., Barlow K.A. Multiple primary carcinomata of the colon, duodenum, and larynx associated with kerato-acanthomata of the face. Br. J. Surg. 1967, 54:191-195.
141. Mukherjee A., McGarrity T.J., Ruggiero F., Koltun W., McKenna K., Poritz L., Baker M.J. The revised Bethesda guidelines: extent of utilization in a university hospital medical center with a cancer genetics program. Hered. Cancer Clin. Pract. 2010, 8:9.
142. Murphy K.M., Zhang S., Geiger T., Hafez M.J., Bacher J., Berg K.D., Eshleman J.R. Comparison of the microsatellite instability analysis system and the Bethesda panel for the determination of microsatellite instability in colorectal cancers. J. Mol. Diagn. 2006, 8:305-311.
143. Nardon E., Glavac D., Benhattar J., Groenen P.J., Hofler G., Hofler H., Jung A., Keller G., Kirchner T., Lessi F., Ligtenberg M.J., Mazzanti C.M., et al. A multicenter study to validate the reproducibility of MSI testing with a panel of 5 quasimonomorphic mononucleotide repeats. Diagn. Mol. Pathol. 2010, 19:236-242.
144. 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.
145. Oliveira C., Pinto M., Duval A., Brennetot C., Domingo E., Espin E., Armengol M., Yamamoto H., Hamelin R., Seruca R., Schwartz S. BRAF mutations characterize colon but not gastric cancer with mismatch repair deficiency. Oncogene 2003, 22:9192-9196.
146. Oliveira C., Westra J.L., Arango D., Ollikainen M., Domingo E., Ferreira A., Velho S., Niessen R., Lagerstedt K., Alhopuro P., Laiho P., Veiga I., et al. Distinct patterns of KRAS mutations in colorectal carcinomas according to germline mismatch repair defects and hMLH1 methylation status. Hum. Mol. Genet. 2004, 13:2303-2311.
147. Ollikainen M., Hannelius U., Lindgren C.M., Abdel-Rahman W.M., Kere J., Peltomaki P. Mechanisms of inactivation of MLH1 in hereditary nonpolyposis colorectal carcinoma: a novel approach. Oncogene 2007, 26:4541-4549.
148. Olschwang S., Hamelin R., Laurent-Puig P., Thuille B., De Rycke Y., Li Y.J., Muzeau F., Girodet J., Salmon R.J., Thomas G. Alternative genetic pathways in colorectal carcinogenesis. Proc. Natl. Acad. Sci. USA 1997, 94:12122-12127.
149. Overbeek L.I., Ligtenberg M.J., Willems R.W., Hermens R.P., Blokx W.A., Dubois S.V., van der Linden H., Meijer J.W., Mlynek-Kersjes M.L., Hoogerbrugge N., Hebeda K.M., van Krieken J.H. Interpretation of immunohistochemistry for mismatch repair proteins is only reliable in a specialized setting. Am. J. Surg. Pathol. 2008, 32:1246-1251.
150. Palascak-Juif V., Bouvier A.M., Cosnes J., Flourie B., Bouche O., Cadiot G., Lemann M., Bonaz B., Denet C., Marteau P., Gambiez L., Beaugerie L., et al. Small bowel adenocarcinoma in patients with Crohn's disease compared with small bowel adenocarcinoma de novo. Inflamm. Bowel Dis. 2005, 11:828-832.
151. Palombo F., Gallinari P., Iaccarino I., Lettieri T., Hughes M., D'Arrigo A., Truong O., Hsuan J.J., Jiricny J. GTBP, a 160-kilodalton protein essential for mismatch-binding activity in human cells. Science (New York, NY) 1995, 268:1912-1914.
152. 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., et al. Mutation of a mutL homolog in hereditary colon cancer. Science (New York, NY) 1994, 263:1625-1629.
153. Peltomaki P. Role of DNA mismatch repair defects in the pathogenesis of human cancer. J. Clin. Oncol. 2003, 21:1174-1179.
154. Peltomaki P., Vasen H. Mutations associated with HNPCC predisposition-update of ICG-HNPCC/INSiGHT mutation database. Dis. Markers 2004, 20:269-276.
155. 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., et al. Genetic mapping of a locus predisposing to human colorectal cancer. Science (New York, NY) 1993, 260:810-812.
156. Perucho M. A National Cancer Institute workshop on microsatellite instability for cancer detection and familial predisposition: development of international criteria for the determination of microsatellite instability in colorectal cancer. Cancer Res. 1999, 59:249-256. Correspondence re: C.R. Boland et al.
157. Cancer Res. 1998, 58:5248-5257.
158. Pinol V., Andreu M., Castells A., Paya A., Bessa X., Rodrigo J. Frequency of hereditary non-polyposis colorectal cancer and other colorectal cancer familial forms in Spain: a multicentre, prospective, nationwide study. Eur. J. Gastroenterol. Hepatol. 2004, 16:39-45.
159. Pinol V., Castells A., Andreu M., Castellvi-Bel S., Alenda C., Llor X., Xicola R.M., Rodriguez-Moranta F., Paya A., Jover R., Bessa X. Accuracy of revised Bethesda guidelines, microsatellite instability, and immunohistochemistry for the identification of patients with hereditary nonpolyposis colorectal cancer. JAMA 2005, 293:1986-1994.
160. Pistorius S., Kruger S., Hohl R., Plaschke J., Distler W., Saeger H.D., Schackert H.K. Occult endometrial cancer and decision making for prophylactic hysterectomy in hereditary nonpolyposis colorectal cancer patients. Gynecol. Oncol. 2006, 102:189-194.
161. Popat S., Hubner R., Houlston R.S. Systematic review of microsatellite instability and colorectal cancer prognosis. J. Clin. Oncol. 2005, 23:609-618.
162. Quehenberger F., Vasen H.F., 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. 2005, 42:491-496.
163. Raevaara T.E., Korhonen M.K., Lohi H., Hampel H., Lynch E., Lonnqvist K.E., Holinski-Feder E., Sutter C., McKinnon W., Duraisamy S., Gerdes A.M., Peltomaki P., et al. Functional significance and clinical phenotype of nontruncating mismatch repair variants of MLH1. Gastroenterology 2005, 129:537-549.
164. Rahner N., Friedrichs N., Steinke V., Aretz S., Friedl W., Buettner R., Mangold E., Propping P., Walldorf C. Coexisting somatic promoter hypermethylation and pathogenic MLH1 germline mutation in Lynch syndrome. J. Pathol. 2008, 214:10-16.
165. Rajagopalan H., Bardelli A., Lengauer C., Kinzler K.W., Vogelstein B., Velculescu V.E. Tumorigenesis: RAF/RAS oncogenes and mismatch-repair status. Nature 2002, 418:934.
166. Rampino N., Yamamoto H., Ionov Y., Li Y., Sawai H., Reed J.C., Perucho M. Somatic frameshift mutations in the BAX gene in colon cancers of the microsatellite mutator phenotype. Science (New York, NY) 1997, 275:967-969.
167. Raskin L., Schwenter F., Freytsis M., Tischkowitz M., Wong N., Chong G., Narod S., Levine D., Bogomolniy F., Aronson M., Thibodeau S., Hunt K., et al. Characterization of two Ashkenazi Jewish founder mutations in MSH6 gene causing Lynch syndrome. Clin. Genet. 2010, 79:512-522.
168. Renkonen-Sinisalo L., Sipponen P., Aarnio M., Julkunen R., Aaltonen L.A., Sarna S., Jarvinen H.J., Mecklin J.P. No support for endoscopic surveillance for gastric cancer in hereditary non-polyposis colorectal cancer. Scand. J. Gastroenterol. 2002, 37:574-577.
169. Renkonen-Sinisalo L., Butzow R., Leminen A., Lehtovirta P., Mecklin J.P., Jarvinen H.J. Surveillance for endometrial cancer in hereditary nonpolyposis colorectal cancer syndrome. Int. J. Cancer 2007, 120:821-824.
170. Ribic C.M., Sargent D.J., Moore M.J., Thibodeau S.N., French A.J., Goldberg R.M., Hamilton S.R., Laurent-Puig P., Gryfe R., Shepherd L.E., Tu D., Redston M., et al. Tumor microsatellite-instability status as a predictor of benefit from fluorouracil-based adjuvant chemotherapy for colon cancer. N. Engl. J. Med. 2003, 349:247-257.
171. 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. J. Natl. Cancer Inst. 1997, 89:1758-1762.
172. Roman R., Verdu M., Calvo M., Vidal A., Sanjuan X., Jimeno M., Salas A., Autonell J., Trias I., Gonzalez M., Garcia B., Rodon N., et al. Microsatellite instability of the colorectal carcinoma can be predicted in the conventional pathologic examination. A prospective multicentric study and the statistical analysis of 615 cases consolidate our previously proposed logistic regression model. Virchows Arch. 2010, 456:533-541.
173. Rouleau E., Lefol C., Bourdon V., Coulet F., Noguchi T., Soubrier F., Bieche I., Olschwang S., Sobol H., Lidereau R. Quantitative PCR high-resolution melting (qPCR-HRM) curve analysis, a new approach to simultaneously screen point mutations and large rearrangements: application to MLH1 germline mutations in Lynch syndrome. Hum. Mutat. 2009, 30:867-875.
174. Rustgi A.K. The genetics of hereditary colon cancer. Genes Dev. 2007, 21:2525-2538.
175. Salahshor S., Koelble K., Rubio C., Lindblom A. Microsatellite Instability and hMLH1 and hMSH2 expression analysis in familial and sporadic colorectal cancer. Lab. Invest. 2001, 81:535-541.
176. Salovaara R., Loukola A., Kristo P., Kaariainen H., Ahtola H., Eskelinen M., Harkonen N., Julkunen R., Kangas E., Ojala S., Tulikoura J., Valkamo E., et al. Population-based molecular detection of hereditary nonpolyposis colorectal cancer. J. Clin. Oncol. 2000, 18:2193-2200.
177. Samowitz W.S., Slattery M.L., Potter J.D., Leppert M.F. BAT-26 and BAT-40 instability in colorectal adenomas and carcinomas and germline polymorphisms. Am. J. Pathol. 1999, 154:1637-1641.
178. Sanchez de Abajo A., de la Hoya M., van Puijenbroek M., Godino J., Diaz-Rubio E., Morreau H., Caldes T. Dual role of LOH at MMR loci in hereditary non-polyposis colorectal cancer?. Oncogene 2006, 25:2124-2130.
179. Schmeler K.M., Lynch H.T., Chen L.M., Munsell M.F., Soliman P.T., Clark M.B., Daniels M.S., White K.G., Boyd-Rogers S.G., Conrad P.G., Yang K.Y., Rubin M.M., et al. Prophylactic surgery to reduce the risk of gynecologic cancers in the Lynch syndrome. N. Engl. J. Med. 2006, 354:261-269.
180. Schofield L., Watson N., Grieu F., Li W.Q., Zeps N., Harvey J., Stewart C., Abdo M., Goldblatt J., Iacopetta B. Population-based detection of Lynch syndrome in young colorectal cancer patients using microsatellite instability as the initial test. Int. J. Cancer 2009, 124:1097-1102.
181. Schulmann K., Mori Y., Croog V., Yin J., Olaru A., Sterian A., Sato F., Wang S., Xu Y., Deacu E., Berki A.T., Hamilton J.P., et al. Molecular phenotype of inflammatory bowel disease-associated neoplasms with microsatellite instability. Gastroenterology 2005, 129:74-85.
182. Scott R.J., McPhillips M., Meldrum C.J., Fitzgerald P.E., Adams K., Spigelman A.D., 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.
183. Scott R.H., Homfray T., Huxter N.L., Mitton S.G., Nash R., Potter M.N., Lancaster D., Rahman N. Familial T-cell non-Hodgkin lymphoma caused by biallelic MSH2 mutations. J. Med. Genet. 2007, 44:e83.
184. Senter L., Clendenning M., Sotamaa K., Hampel H., Green J., Potter J.D., Lindblom A., Lagerstedt K., Thibodeau S.N., Lindor N.M., Young J., Winship I., et al. The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations. Gastroenterology 2008, 135:419-428.
185. Shia J. Immunohistochemistry versus microsatellite instability testing for screening colorectal cancer patients at risk for hereditary nonpolyposis colorectal cancer syndrome. Part I. The utility of immunohistochemistry. J. Mol. Diagn. 2008, 10:293-300.
186. Shia J., Tang L.H., Vakiani E., Guillem J.G., Stadler Z.K., Soslow R.A., Katabi N., Weiser M.R., Paty P.B., Temple L.K., Nash G.M., Wong W.D., et al. Immunohistochemistry as first-line screening for detecting colorectal cancer patients at risk for hereditary nonpolyposis colorectal cancer syndrome: a 2-antibody panel may be as predictive as a 4-antibody panel. Am. J. Surg. Pathol. 2009, 33:1639-1645.
187. Shia J., Stadler Z., Weiser M.R., Rentz M., Gonen M., Tang L.H., Vakiani E., Katabi N., Xiong X., Markowitz A.J., Shike M., Guillem J., et al. Immunohistochemical staining for DNA mismatch repair proteins in intestinal tract carcinoma: how reliable are biopsy samples?. Am. J. Surg. Pathol. 2011, 35:447-454.
188. Sieber O.M., Lipton L., Crabtree M., Heinimann K., Fidalgo P., Phillips R.K., Bisgaard M.L., Orntoft T.F., Aaltonen L.A., Hodgson S.V., Thomas H.J., Tomlinson I.P. Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MYH. N. Engl. J. Med. 2003, 348:791-799.
189. Sjursen W., Bjornevoll I., Engebretsen L.F., Fjelland K., Halvorsen T., Myrvold H.E. A homozygote splice site PMS2 mutation as cause of Turcot syndrome gives rise to two different abnormal transcripts. Fam. Cancer 2009, 8:179-186.
190. Soravia C., Berk T., Madlensky L., Mitri A., Cheng H., Gallinger S., Cohen Z., Bapat B. Genotype-phenotype correlations in attenuated adenomatous polyposis coli. Am. J. Hum. Genet. 1998, 62:1290-1301.
191. Southey M.C., Jenkins M.A., Mead L., Whitty J., Trivett M., Tesoriero A.A., Smith L.D., Jennings K., Grubb G., Royce S.G., Walsh M.D., Barker M.A., et al. Use of molecular tumor characteristics to prioritize mismatch repair gene testing in early-onset colorectal cancer. J. Clin. Oncol. 2005, 23:6524-6532.
192. Stulp R.P., Vos Y.J., Mol B., Karrenbeld A., de Raad M., van der Mijle H.J., Sijmons R.H. First report of a de novo germline mutation in the MLH1 gene. World J. Gastroenterol. 2006, 12:809-811.
193. Suraweera N., Duval A., Reperant M., Vaury C., Furlan D., Leroy K., Seruca R., Iacopetta B., Hamelin R. Evaluation of tumor microsatellite instability using five quasimonomorphic mononucleotide repeats and pentaplex PCR. Gastroenterology 2002, 123:1804-1811.
194. Suzuki H., Harpaz N., Tarmin L., Yin J., Jiang H.Y., Bell J.D., Hontanosas M., Groisman G.M., Abraham J.M., Meltzer S.J. Microsatellite instability in ulcerative colitis-associated colorectal dysplasias and cancers. Cancer Res. 1994, 54:4841-4844.
195. Svrcek M., El-Bchiri J., Chalastanis A., Capel E., Dumont S., Buhard O., Oliveira C., Seruca R., Bossard C., Mosnier J.F., Berger F., Leteurtre E., et al. Specific clinical and biological features characterize inflammatory bowel disease associated colorectal cancers showing microsatellite instability. J. Clin. Oncol. 2007, 25:4231-4238.
196. Syngal S., Fox E.A., Eng C., Kolodner R.D., Garber J.E. Sensitivity and specificity of clinical criteria for hereditary non-polyposis colorectal cancer associated mutations in MSH2 and MLH1. J. Med. Genet. 2000, 37:641-645.
197. Talseth-Palmer B.A., McPhillips M., Groombridge C., Spigelman A., Scott R.J. MSH6 and PMS2 mutation positive Australian Lynch syndrome families: novel mutations, cancer risk and age of diagnosis of colorectal cancer. Hered. Cancer Clin. Pract. 2010, 8:5.
198. Thibodeau S.N., Bren G., Schaid D. Microsatellite instability in cancer of the proximal colon. Science (New York, NY) 1993, 260:816-819.
199. Timmermann B., Kerick M., Roehr C., Fischer A., Isau M., Boerno S.T., Wunderlich A., Barmeyer C., Seemann P., Koenig J., Lappe M., Kuss A.W., et al. Somatic mutation profiles of MSI and MSS colorectal cancer identified by whole exome next generation sequencing and bioinformatics analysis. PLoS One 2010, 5:e15661.
200. Tomlinson I., Halford S., Aaltonen L., Hawkins N., Ward R. Does MSI-low exist?. J. Pathol. 2002, 197:6-13.
201. Torre D. Multiple sebaceous tumors. Arch. Dermatol. 1968, 98:549-551.
202. Toyota M., Ahuja N., Ohe-Toyota M., Herman J.G., Baylin S.B., Issa J.P. CpG island methylator phenotype in colorectal cancer. Proc. Natl. Acad. Sci. USA 1999, 96:8681-8686.
203. Trano G., Sjursen W., Wasmuth H.H., Hofsli E., Vatten L.J. Performance of clinical guidelines compared with molecular tumour screening methods in identifying possible Lynch syndrome among colorectal cancer patients: a Norwegian population-based study. Br. J. Cancer 2010, 102:482-488.
204. Tresallet C., Brouquet A., Julie C., Beauchet A., Vallot C., Menegaux F., Mitry E., Radvanyi F., Malafosse R., Rougier P., Nordlinger B., Laurent-Puig P., et al. Evaluation of predictive models for the identification in daily practice of patients with Lynch syndrome. Int. J. Cancer 2012, 130:1367-1377.
205. Turcot J., Despres J.P., St Pierre F. Malignant tumors of the central nervous system associated with familial polyposis of the colon: report of two cases. Dis. Colon Rectum 1959, 2:465-468.
206. Tuupanen S., Karhu A., Jarvinen H., Mecklin J.P., Launonen V., Aaltonen L.A. No evidence for dual role of loss of heterozygosity in hereditary non-polyposis colorectal cancer. Oncogene 2007, 26:2513-2517.
207. Umar A., Boland C.R., Terdiman J.P., Syngal S., de la Chapelle A., Ruschoff J., Fishel R., Lindor N.M., Burgart L.J., Hamelin R., Hamilton S.R., Hiatt R.A., et al. Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability. J. Natl. Cancer Inst. 2004, 96:261-268.
208. Valeri N., Gasparini P., Fabbri M., Braconi C., Veronese A., Lovat F., Adair B., Vannini I., Fanini F., Bottoni A., Costinean S., Sandhu S.K., et al. Modulation of mismatch repair and genomic stability by miR-155. Proc. Natl. Acad. Sci. USA 2010, 107:6982-6987.
209. Valle L., Perea J., Carbonell P., Fernandez V., Dotor A.M., Benitez J., Urioste M. Clinicopathologic and pedigree differences in amsterdam I-positive hereditary nonpolyposis colorectal cancer families according to tumor microsatellite instability status. J. Clin. Oncol. 2007, 25:781-786.
210. 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., 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.
211. Van Lier M.G., De Wilt J.H., Wagemakers J.J., Dinjens W.N., Damhuis R.A., Wagner A., Kuipers E.J., Van Leerdam M.E. Underutilization of microsatellite instability analysis in colorectal cancer patients at high risk for Lynch syndrome. Scand. J. Gastroenterol. 2009, 44:600-604.
212. 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.
213. 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., et al. Cancer risk in families with hereditary nonpolyposis colorectal cancer diagnosed by mutation analysis. Gastroenterology 1996, 110:1020-1027.
214. Vasen H.F., Watson P., Mecklin J.P., Lynch H.T. New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative group on HNPCC. Gastroenterology 1999, 116:1453-1456.
215. Vasen H.F., Moslein G., Alonso A., Bernstein I., Bertario L., Blanco I., Burn J., Capella G., Engel C., Frayling I., Friedl W., Hes F.J., et al. Guidelines for the clinical management of Lynch syndrome (hereditary non-polyposis cancer). J. Med. Genet. 2007, 44:353-362.
216. Vilar E., Gruber S.B. Microsatellite instability in colorectal cancer-the stable evidence. Nat. Rev. 2010, 7:153-162.
217. Wahlberg S., Liu T., Lindblom P., Lindblom A. Various mutation screening techniques in the DNA mismatch repair genes hMSH2 and hMLH1. Genet. Test. 1999, 3:259-264.
218. Wang L., Cunningham J.M., Winters J.L., Guenther J.C., French A.J., Boardman L.A., Burgart L.J., McDonnell S.K., Schaid D.J., Thibodeau S.N. BRAF mutations in colon cancer are not likely attributable to defective DNA mismatch repair. Cancer Res. 2003, 63:5209-5212.
219. Wang Q., Montmain G., Ruano E., Upadhyaya M., Dudley S., Liskay R.M., Thibodeau S.N., Puisieux A. Neurofibromatosis type 1 gene as a mutational target in a mismatch repair-deficient cell type. Hum. Genet. 2003, 112:117-123.
220. Wang Y., Friedl W., Lamberti C., Jungck M., Mathiak M., Pagenstecher C., Propping P., Mangold E. Hereditary nonpolyposis colorectal cancer: frequent occurrence of large genomic deletions in MSH2 and MLH1 genes. Int. J. Cancer 2003, 103:636-641.
221. Warthin A.S. Heredity with reference to carcinoma as shown by the study of the cases examined in the pathological laboratory of the University of Michigan. Arch. Intern. Med. 1913, 12:546-555.
222. Watanabe A., Ikejima M., Suzuki N., Shimada T. Genomic organization and expression of the human MSH3 gene. Genomics 1996, 31:311-318.
223. Watson N., Grieu F., Morris M., Harvey J., Stewart C., Schofield L., Goldblatt J., Iacopetta B. Heterogeneous staining for mismatch repair proteins during population-based prescreening for hereditary nonpolyposis colorectal cancer. J. Mol. Diagn. 2007, 9:472-478.
224. Watson P., Vasen H.F., Mecklin J.P., Bernstein I., Aarnio M., Jarvinen H.J., Myrhoj T., Sunde L., Wijnen J.T., Lynch H.T. The risk of extra-colonic, extra-endometrial cancer in the Lynch syndrome. Int. J. Cancer 2008, 123:444-449.
225. Weisenberger D.J., Siegmund K.D., Campan M., Young J., Long T.I., Faasse M.A., Kang G.H., Widschwendter M., Weener D., Buchanan D., Koh H., Simms L., et al. CpG island methylator phenotype underlies sporadic microsatellite instability and is tightly associated with BRAF mutation in colorectal cancer. Nat. Genet. 2006, 38:787-793.
226. 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., et al. Seven new mutations in hMSH2, an HNPCC gene, identified by denaturing gradient-gel electrophoresis. Am. J. Hum. Genet. 1995, 56:1060-1066.
227. Wijnen J.T., Vasen H.F., Khan P.M., Zwinderman A.H., van der Klift H., Mulder A., Tops C., Moller P., Fodde R. Clinical findings with implications for genetic testing in families with clustering of colorectal cancer. N. Engl. J. Med. 1998, 339:511-518.
228. Willenbucher R.F., Aust D.E., Chang C.G., Zelman S.J., Ferrell L.D., Moore D.H., Waldman F.M. Genomic instability is an early event during the progression pathway of ulcerative-colitis-related neoplasia. Am. J. Pathol. 1999, 154:1825-1830.
229. Woerner S.M., Gebert J., Yuan Y.P., Sutter C., Ridder R., Bork P., von Knebel Doeberitz M. Systematic identification of genes with coding microsatellites mutated in DNA mismatch repair-deficient cancer cells. Int. J. Cancer 2001, 93:12-19.
230. Woerner S.M., Benner A., Sutter C., Schiller M., Yuan Y.P., Keller G., Bork P., Doeberitz M.K., Gebert J.F. Pathogenesis of DNA repair-deficient cancers: a statistical meta-analysis of putative Real Common Target genes. Oncogene 2003, 22:2226-2235.
231. Wolf B., Gruber S., Henglmueller S., Kappel S., Bergmann M., Wrba F., Karner-Hanusch J. Efficiency of the revised Bethesda guidelines (2003) for the detection of mutations in mismatch repair genes in Austrian HNPCC patients. Int. J. Cancer 2006, 118:1465-1470.
232. Wong Y.F., Cheung T.H., Lo K.W., Yim S.F., Chan L.K., Buhard O., Duval A., Chung T.K., Hamelin R. Detection of microsatellite instability in endometrial cancer: advantages of a panel of five mononucleotide repeats over the National Cancer Institute panel of markers. Carcinogenesis 2006, 27:951-955.
233. Wu Y., Berends M.J., Post J.G., Mensink R.G., Verlind E., Van Der Sluis T., Kempinga C., Sijmons R.H., van der Zee A.G., Hollema H., Kleibeuker J.H., Buys C.H., et al. Germline mutations of EXO1 gene in patients with hereditary nonpolyposis colorectal cancer (HNPCC) and atypical HNPCC forms. Gastroenterology 2001, 120:1580-1587.
234. Wu Y., Berends M.J., Sijmons R.H., Mensink R.G., Verlind E., Kooi K.A., van der Sluis T., Kempinga C., van dDer Zee A.G., Hollema H., Buys C.H., Kleibeuker J.H., et al. A role for MLH3 in hereditary nonpolyposis colorectal cancer. Nat. Genet. 2001, 29:137-138.
235. Xicola R.M., Llor X., Pons E., Castells A., Alenda C., Pinol V., Andreu M., Castellvi-Bel S., Paya A., Jover R., Bessa X., Giros A., et al. Performance of different microsatellite marker panels for detection of mismatch repair-deficient colorectal tumors. J. Natl. Cancer Inst. 2007, 99:244-252.
236. You J.F., Buhard O., Ligtenberg M.J., Kets C.M., Niessen R.C., Hofstra R.M., Wagner A., Dinjens W.N., Colas C., Lascols O., Collura A., Flejou J.F., et al. Tumours with loss of MSH6 expression are MSI-H when screened with a pentaplex of five mononucleotide repeats. Br. J. Cancer 2010, 103:1840-1845.
237. Young J., Simms L.A., Biden K.G., Wynter C., Whitehall V., Karamatic R., George J., Goldblatt J., Walpole I., Robin S.A., Borten M.M., Stitz R., et al. Features of colorectal cancers with high-level microsatellite instability occurring in familial and sporadic settings: parallel pathways of tumorigenesis. Am. J. Pathol. 2001, 159:2107-2116.
238. Zhang L. Immunohistochemistry versus microsatellite instability testing for screening colorectal cancer patients at risk for hereditary nonpolyposis colorectal cancer syndrome. Part II. The utility of microsatellite instability testing. J. Mol. Diagn. 2008, 10:301-307.
239. Zhang J., Lindroos A., Ollila S., Russell A., Marra G., Mueller H., Peltomaki P., Plasilova M., Heinimann K. Gene conversion is a frequent mechanism of inactivation of the wild-type allele in cancers from MLH1/MSH2 deletion carriers. Cancer Res. 2006, 66:659-664.
240. Zhou X.P., Hoang J.M., Cottu P., Thomas G., Hamelin R. Allelic profiles of mononucleotide repeat microsatellites in control individuals and in colorectal tumors with and without replication errors. Oncogene 1997, 15:1713-1718.
241. Zhou X.P., Hoang J.M., Li Y.J., Seruca R., Carneiro F., Sobrinho-Simoes M., Lothe R.A., Gleeson C.M., Russell S.E., Muzeau F., Flejou J.F., Hoang-Xuan K., et al. Determination of the replication error phenotype in human tumors without the requirement for matching normal DNA by analysis of mononucleotide repeat microsatellites. Genes Chromosomes Cancer 1998, 21:101-107.