Deficient DNA Mismatch Repair Is Common in Lynch Syndrome-Associated Colorectal Adenomas

Lynch, 1999, Genetic susceptibility to non-polyposis colorectal cancer, J Med Genet, 36, 801

Lynch, 1971, Cancer family G revisited: 1895–1970, Cancer, 27, 1505, 10.1002/1097-0142(197106)27:6<1505::AID-CNCR2820270635>3.0.CO;2-L

Mecklin, 1991, Tumor spectrum in cancer family syndrome (hereditary nonpolyposis colorectal cancer), Cancer, 68, 1109, 10.1002/1097-0142(19910901)68:5<1109::AID-CNCR2820680535>3.0.CO;2-S

Bronner, 1994, Mutation in the DNA mismatch repair gene homologue hMLH 1 is associated with hereditary non-polyposis colon cancer, Nature, 368, 258, 10.1038/368258a0

Fishel, 1993, The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer, Cell, 75, 1027, 10.1016/0092-8674(93)90546-3

Miyaki, 1997, Germline mutation of MSH6 as the cause of hereditary nonpolyposis colorectal cancer, Nat Genet, 17, 271, 10.1038/ng1197-271

Nicolaides, 1994, Mutations of two PMS homologues in hereditary nonpolyposis colon cancer, Nature, 371, 75, 10.1038/371075a0

Papadopoulos, 1994, Mutation of a mutL homolog in hereditary colon cancer, Science, 263, 1625, 10.1126/science.8128251

Peltomaki, 1997, Mutations predisposing to hereditary nonpolyposis colorectal cancer: database and results of a collaborative study. The International Collaborative Group on Hereditary Nonpolyposis Colorectal Cancer, Gastroenterology, 113, 1146, 10.1053/gast.1997.v113.pm9322509

Buermeyer, 1999, Mammalian DNA mismatch repair, Annu Rev Genet, 33, 533, 10.1146/annurev.genet.33.1.533

Jiricny, 2000, Mismatch repair defects in cancer, Curr Opin Genet Dev, 10, 157, 10.1016/S0959-437X(00)00066-6

Ionov, 1993, Ubiquitous somatic mutations in simple repeated sequences reveal a new mechanism for colonic carcinogenesis, Nature, 363, 558, 10.1038/363558a0

Boland, 1998, 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, 58, 5248

Thibodeau, 1993, Microsatellite instability in cancer of the proximal colon, Science, 260, 816, 10.1126/science.8484122

Peltomaki, 2001, Deficient DNA mismatch repair: a common etiologic factor for colon cancer, Hum Mol Genet, 10, 735, 10.1093/hmg/10.7.735

Lamberti, 1999, Microsatellite instability-a useful diagnostic tool to select patients at high risk for hereditary non-polyposis colorectal cancer: a study in different groups of patients with colorectal cancer, Gut, 44, 839, 10.1136/gut.44.6.839

Loukola, 2001, Microsatellite marker analysis in screening for hereditary nonpolyposis colorectal cancer (HNPCC), Cancer Res, 61, 4545

Lanza, 2002, Immunohistochemical pattern of MLH1/MSH2 expression is related to clinical and pathological features in colorectal adenocarcinomas with microsatellite instability, Mod Pathol, 15, 741, 10.1097/01.MP.0000018979.68686.B2

Jass, 2000, hMLH1 and hMSH2 immunostaining in colorectal cancer, Gut, 47, 315, 10.1136/gut.47.2.315

Müller, 2001, The reliability of immunohistochemistry as a prescreening method for the diagnosis of hereditary nonpolyposis colorectal cancer (HNPCC)-Results of an international collaborative study, Fam Cancer, 1, 87, 10.1023/A:1013840907881

Thibodeau, 1996, Altered expression of hMSH2 and hMLH1 in tumors with microsatellite instability and genetic alterations in mismatch repair genes, Cancer Res, 56, 4836

Järvinen, 2000, Controlled 15-year trial on screening for colorectal cancer in families with hereditary nonpolyposis colorectal cancer, Gastroenterology, 118, 829, 10.1016/S0016-5085(00)70168-5

Jass, 1994, Hereditary non-polyposis colorectal cancer: morphologies, genes and mutations, Mutat Res, 310, 125, 10.1016/0027-5107(94)90016-7

Lindgren, 2002, Adenoma prevalence and cancer risk in familial non-polyposis colorectal cancer, Gut, 50, 228, 10.1136/gut.50.2.228

Rijcken, 2002, Proximal adenomas in hereditary non-polyposis colorectal cancer are prone to rapid malignant transformation, Gut, 50, 382, 10.1136/gut.50.3.382

Loukola, 1999, Microsatellite instability in adenomas as a marker for hereditary nonpolyposis colorectal cancer, Am J Pathol, 155, 1849, 10.1016/S0002-9440(10)65503-4

Lindor, 2006, Recommendations for the care of individuals with an inherited predisposition to Lynch syndrome: a systematic review, JAMA, 296, 1507, 10.1001/jama.296.12.1507

Iino, 2000, DNA microsatellite instability and mismatch repair protein loss in adenomas presenting in hereditary non-polyposis colorectal cancer, Gut, 47, 37, 10.1136/gut.47.1.37

De Jong, 2004, The role of mismatch repair gene defects in the development of adenomas in patients with HNPCC, Gastroenterology, 126, 42, 10.1053/j.gastro.2003.10.043

Halvarsson, 2005, Loss of mismatch repair protein immunostaining in colorectal adenomas from patients with hereditary nonpolyposis colorectal cancer, Mod Pathol, 18, 1095, 10.1038/modpathol.3800392

Wu, 2002, Molecular and clinical characteristics of MSH6 variants: an analysis of 25 index carriers of a germline variant, Am J Hum Genet, 70, 26, 10.1086/337944

Müller, 2006, Prevalence of the mismatch-repair-deficient phenotype in colonic adenomas arising in HNPCC patients: results of a 5-year follow-up study, Int J Colorectal Dis, 21, 632, 10.1007/s00384-005-0073-6

Shia, 2005, Value of immunohistochemical detection of DNA mismatch repair proteins in predicting germline mutation in hereditary colorectal neoplasms, Am J Surg Pathol, 29, 96, 10.1097/01.pas.0000146009.85309.3b

Giuffre, 2005, Microsatellite analysis of hereditary nonpolyposis colorectal cancer-associated colorectal adenomas by laser-assisted microdissection: correlation with mismatch repair protein expression provides new insights in early steps of tumorigenesis, J Mol Diagn, 7, 160, 10.1016/S1525-1578(10)60542-9

Leacha, 1993, Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer, Cell, 75, 1215, 10.1016/0092-8674(93)90330-S

Fujiwara, 1998, Accumulated clonal genetic alterations in familial and sporadic colorectal carcinomas with widespread instability in microsatellite sequences, Am J Pathol, 153, 1063, 10.1016/S0002-9440(10)65651-9

Raevaara, 2003, Pathogenicity of the hereditary colorectal cancer mutation hMLH1 del616 linked to shortage of the functional protein, Gastroenterology, 125, 501, 10.1016/S0016-5085(03)00905-3

Wahlberg, 2002, Evaluation of microsatellite instability and immunohistochemistry for the prediction of germ-line MSH2 and MLH1 mutations in hereditary nonpolyposis colon cancer families, Cancer Res, 62, 3485

Salahshor, 2001, Microsatellite Instability and hMLH1 and hMSH2 expression analysis in familial and sporadic colorectal cancer, Lab Invest, 81, 535, 10.1038/labinvest.3780262

Liljegren, 2008, Prevalence of adenomas and hyperplastic polyps in mismatch repair mutation carriers among CAPP2 participants: report by the colorectal adenoma/carcinoma prevention programme 2, J Clin Oncol, 26, 3434, 10.1200/JCO.2007.13.2795

Otori, 1997, High frequency of K-ras mutations in human colorectal hyperplastic polyps, Gut, 40, 660, 10.1136/gut.40.5.660

Jen, 1994, Molecular determinants of dysplasia in colorectal lesions, Cancer Res, 54, 5523

Konishi, 1996, Molecular nature of colon tumors in hereditary nonpolyposis colon cancer, familial polyposis, and sporadic colon cancer, Gastroenterology, 111, 307, 10.1053/gast.1996.v111.pm8690195

Konishi, 2004, Molecular differences between sporadic serrated and conventional colorectal adenomas, Clin Cancer Res, 10, 3082, 10.1158/1078-0432.CCR-03-0334

Jass, 1999, Characterisation of a subtype of colorectal cancer combining features of the suppressor and mild mutator pathways, J Clin Pathol, 52, 455, 10.1136/jcp.52.6.455

Chan, 2003, BRAF and KRAS mutations in colorectal hyperplastic polyps and serrated adenomas, Cancer Res, 63, 4878

Iino, 1999, DNA microsatellite instability in hyperplastic polyps, serrated adenomas, and mixed polyps: a mild mutator pathway for colorectal cancer?, J Clin Pathol, 52, 5, 10.1136/jcp.52.1.5

Jass, 1997, Mixed epithelial polyps in association with hereditary non-polyposis colorectal cancer providing an alternative pathway of cancer histogenesis, Pathology, 29, 28, 10.1080/00313029700169494

Rijcken, 2003, Hyperplastic polyps in hereditary nonpolyposis colorectal cancer, Am J Gastroenterol, 98, 2306, 10.1111/j.1572-0241.2003.07629.x