Access the full text.
Sign up today, get DeepDyve free for 14 days.
S. Syngal, E. Fox, C. Eng, R. Kolodner, J. Garber (2000)Sensitivity and specificity of clinical criteria for hereditary non-polyposis colorectal cancer associated mutations inMSH2 and MLH1
Journal of Medical Genetics, 37
C. Taylor, R. Charlton, J. Burn, E. Sheridan, G. Taylor (2003)Genomic deletions in MSH2 or MLH1 are a frequent cause of hereditary non‐polyposis colorectal cancer: Identification of novel and recurrent deletions by MLPA
Human Mutation, 22
C. Gurin, M. Federici, Lan Kang, J. Boyd (1999)Causes and consequences of microsatellite instability in endometrial carcinoma.
Cancer research, 59 2
G. Möslein, G. Möslein, D. Tester, N. Lindor, R. Honchel, J. Cunningham, A. French, K. Halling, M. Schwab, P. Goretzki, S. Thibodeau (1996)Microsatellite instability and mutation analysis of hMSH2 and hMLH1 in patients with sporadic, familial and hereditary colorectal cancer.
Human molecular genetics, 5 9
S. Thibodeau, G. Bren, D. Schaid (1993)Microsatellite instability in cancer of the proximal colon.
Science, 260 5109
B. Bapat, L. Madlensky, Larissa Temple, Tadaaki Hiruki, M. Redston, D. Baron, L. Xia, V. Marcus, C. Soravia, A. Mitri, Wesley Shen, R. Gryfe, T. Berk, B. Chodirker, Z. Cohen, S. Gallinger (1999)Family history characteristics, tumor microsatellite instability and germline MSH2 and MLH1 mutations in hereditary colorectal cancer
Human Genetics, 104
G. Nash, M. Gimbel, J. Shia, A. Culliford, D. Nathanson, M. Ndubuisi, Y. Yamaguchi, Z. Zeng, F. Barany, P. Paty (2003)Automated, multiplex assay for high-frequency microsatellite instability in colorectal cancer.
Journal of clinical oncology : official journal of the American Society of Clinical Oncology, 21 16
Gosei Ishimaru, J. Adachi, M. Shiseki, N. Yamaguchi, T. Muto, J. Yokota (1995)Microsatellite instability in primary and metastatic colorectal cancers
International Journal of Cancer, 64
J. Stone, D. Robertson, R. Houlston (2001)Immunohistochemistry for MSH2 and MHL1: a method for identifying mismatch repair deficient colorectal cancer
Journal of Clinical Pathology, 54
K. Halling, A. French, S. McDonnell, L. Burgart, D. Schaid, B. Peterson, Laurie Moon-Tasson, M. Mahoney, D. Sargent, M. O’connell, T. Witzig, G. Farr, R. Goldberg, S. Thibodeau (1999)Microsatellite instability and 8p allelic imbalance in stage B2 and C colorectal cancers.
Journal of the National Cancer Institute, 91 15
J. Carethers, E. Smith, Cynthia Behling, L. Nguyen, A. Tajima, Ryan Doctolero, B. Cabrera, A. Goel, Christian Arnold, K. Miyai, C. Boland (2004)Use of 5-fluorouracil and survival in patients with microsatellite-unstable colorectal cancer.
Gastroenterology, 126 2
Loveena Verma, M. Kane, Cecilia Brassett, J. Schmeits, D. Evans, R. Kolodner, E. Maher (1999)Mononucleotide microsatellite instability and germlineMSH6 mutation analysis in early onset colorectal cancer
Journal of Medical Genetics, 36
Britta Halvarsson, A. Lindblom, E. Rambech, K. Lagerstedt, M. Nilbert (2004)Microsatellite instability analysis and/or immunostaining for the diagnosis of hereditary nonpolyposis colorectal cancer?
Virchows Archiv, 444
U. Patel, H. Chen, S. Banerjee (1994)Dinucleotide repeat polymorphisms at nine loci in sporadic colorectal cancer.
Cellular & molecular biology research, 40 7-8
L. Aaltonen, P. Peltomäki, J. Mecklin, H. Järvinen, J. Jass, Jane Green, H. Lynch, P. Watson, G. Tallqvist, M. Juhola, P. Sistonen, S. Hamilton, K. Kinzler, B. Vogelstein, A. Chapelle (1994)Replication errors in benign and malignant tumors from hereditary nonpolyposis colorectal cancer patients.
Cancer research, 54 7
A. Umar, J. Risinger, Ernest Hawk, J. Barrett (2004)Testing guidelines for hereditary non-polyposis colorectal cancer
Nature Reviews Cancer, 4
C. Boland, S. Thibodeau, S. Hamilton, D. Sidransky, J. Eshleman, R. Burt, S. Meltzer, M. Rodriguez-Bigas, R. Fodde, G. Ranzani, S. Srivastava (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 research, 58 22
Y. Hendriks, P. Franken, J. Dierssen, W. Leeuw, J. Wijnen, E. Dreef, C. Tops, M. Breuning, A. Bröcker-Vriends, H. Vasen, R. Fodde, H. Morreau (2003)Conventional and tissue microarray immunohistochemical expression analysis of mismatch repair in hereditary colorectal tumors.
The American journal of pathology, 162 2
N. Bhattacharyya, A. Skandalis, A. Ganesh, J. Groden, M. Meuth (1994)Mutator phenotypes in human colorectal carcinoma cell lines.
Proceedings of the National Academy of Sciences of the United States of America, 91 14
S. Lipkin, L. Rozek, G. Rennert, Wei Yang, Peng-Chieh Chen, J. Hacia, N. Hunt, Brian Shin, Steve Fodor, M. Kokoris, J. Greenson, E. Fearon, H. Lynch, F. Collins, S. Gruber (2004)The MLH1 D132H variant is associated with susceptibility to sporadic colorectal cancer
Nature Genetics, 36
Hanne Heijboer, D. Lindhout, P. Møller, Riccardo Fodde (1998)MSH2 genomic deletions are a frequent cause of HNPCC
Nature Genetics, 20
M. Berends, Ying Wu, R. Sijmons, R. Mensink, T. Sluis, Jannet Hordijk-Hos, E. Vries, H. Hollema, A. Karrenbeld, C. Buys, A. Zee, R. Hofstra, J. Kleibeuker (2002)Molecular and clinical characteristics of MSH6 variants: an analysis of 25 index carriers of a germline variant.
American journal of human genetics, 70 1
R. Fishel, R. Kolodner (1995)Identification of mismatch repair genes and their role in the development of cancer.
Current opinion in genetics & development, 5 3
N. Papadopoulos, N. Nicolaides, Bo Liu, Ramon Parsons, C. Lengauer, F. Palombo, A. D’Arrigo, S. Markowitz, J. Willson, K. Kinzler, J. Jiricny, B. Vogelstein (1995)Mutations of GTBP in genetically unstable cells.
Science, 268 5219
C. Shannon, J. Kirk, R. Barnetson, Justin Evans, M. Schnitzler, M. Quinn, N. Hacker, A. Crandon, P. Harnett (2003)Incidence of microsatellite instability in synchronous tumors of the ovary and endometrium.
Clinical cancer research : an official journal of the American Association for Cancer Research, 9 4
Ying Wu, M. Berends, R. Mensink, Claudia Kempinga, R. Sijmons, A. Zee, H. Hollema, J. Kleibeuker, C. Buys, R. Hofstra (1999)Association of hereditary nonpolyposis colorectal cancer-related tumors displaying low microsatellite instability with MSH6 germline mutations.
American journal of human genetics, 65 5
W. Brueckl, Christian Moesch, T. Brabletz, Corinna Koebnick, C. Riedel, Andreas Jung, S. Merkel, S. Schaber, F. Boxberger, Thomas Kirchner, Werner Hohenberger, E. Hahn, A. Wein (2003)Relationship between microsatellite instability, response and survival in palliative patients with colorectal cancer undergoing first-line chemotherapy.
Anticancer research, 23 2C
J. Cunningham, E. Christensen, D. Tester, Cheong-Yong Kim, P. Roche, L. Burgart, S. Thibodeau (1998)Hypermethylation of the hMLH1 promoter in colon cancer with microsatellite instability.
Cancer research, 58 15
M. Konishi, R. Kikuchi‐Yanoshita, Keiji Tanaka, M. Muraoka, A. Onda, Y. Okumura, N. Kishi, T. Iwama, T. Mori, M. Koike, K. Ushio, M. Chiba, S. Nomizu, F. Konishi, J. Utsunomiya, M. Miyaki (1996)Molecular nature of colon tumors in hereditary nonpolyposis colon cancer, familial polyposis, and sporadic colon cancer.
Gastroenterology, 111 2
M. Christensen, N. Katballe, F. Wikman, H. Primdahl, F. Sørensen, S. Laurberg, T. Ørntoft (2002)Antibody‐based screening for hereditary nonpolyposis colorectal carcinoma compared with microsatellite analysis and sequencing
T. Liu, S. Wahlberg, E. Burek, P. Lindblom, C. Rubio, A. Lindblom (2000)Microsatellite instability as a predictor of a mutation in a DNA mismatch repair gene in familial colorectal cancer
V. Rigau, N. Sebbagh, S. Olschwang, F. Paraf, N. Mourra, Y. Parc, J. Fléjou (2003)Microsatellite instability in colorectal carcinoma. The comparison of immunohistochemistry and molecular biology suggests a role for hMSH6 [correction of hMLH6] immunostaining.
Archives of pathology & laboratory medicine, 127 6
A. Umar, C. Boland, J. Terdiman, S. Syngal, A. Chapelle, J. Rüschoff, R. Fishel, N. Lindor, L. Burgart, R. Hamelin, S. Hamilton, R. Hiatt, J. Jass, A. Lindblom, H. Lynch, P. Peltomaki, S. Ramsey, M. Rodriguez-Bigas, H. Vasen, E. Hawk, J. Barrett, A. Freedman, S. Srivastava (2004)Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability.
Journal of the National Cancer Institute, 96 4
J. Hoang, Paul Cottu, B. Thuille, R. Salmon, G. Thomas, R. Hamelin (1997)BAT-26, an indicator of the replication error phenotype in colorectal cancers and cell lines.
Cancer research, 57 2
H. Iino, J. Jass, L. Simms, J. Young, B. Leggett, Y. Ajioka, H. Watanabe (1999)DNA microsatellite instability in hyperplastic polyps, serrated adenomas, and mixed polyps: a mild mutator pathway for colorectal cancer?
Journal of Clinical Pathology, 52
P. Laiho, V. Launonen, P. Lahermo, M. Esteller, Min Guo, J. Herman, J. Mecklin, H. Järvinen, P. Sistonen, Kyoung-Mee Kim, D. Shibata, R. Houlston, L. Aaltonen (2002)Low-level microsatellite instability in most colorectal carcinomas.
Cancer research, 62 4
J. Cunningham, Cheong-Yong Kim, E. Christensen, D. Tester, Y. Parc, L. Burgart, K. Halling, S. McDonnell, D. Schaid, C. Vockley, Vickie Kubly, H. Nelson, V. Michels, S. Thibodeau (2001)The frequency of hereditary defective mismatch repair in a prospective series of unselected colorectal carcinomas.
American journal of human genetics, 69 4
N. Lindor, L. Burgart, O. Leontovich, R. Goldberg, J. Cunningham, D. Sargent, C. Walsh-Vockley, G. Petersen, M. Walsh, B. Leggett, Joanne Young, M. Barker, J. Jass, J. Hopper, S. Gallinger, B. Bapat, M. Redston, S. Thibodeau (2002)Immunohistochemistry versus microsatellite instability testing in phenotyping colorectal tumors.
Journal of clinical oncology : official journal of the American Society of Clinical Oncology, 20 4
U. Potočnik, D. Glavač, R. Golouh, M. Ravnik-Glavač (2001)Causes of microsatellite instability in colorectal tumors: implications for hereditary non-polyposis colorectal cancer screening.
Cancer genetics and cytogenetics, 126 2
A. Loukola, Katja Eklin, P. Laiho, R. Salovaara, P. Kristo, H. Järvinen, J. Mecklin, V. Launonen, L. Aaltonen (2001)Microsatellite marker analysis in screening for hereditary nonpolyposis colorectal cancer (HNPCC).
Cancer research, 61 11
P. Peltomäki, L. Aaltonen, P. Sistonen, L. Pylkkänen, J. Mecklin, H. Järvinen, Jane Green, J. Jass, J. Weber, F. Leach, G. Petersen, S. Hamilton, A. Chapelle, B. Vogelstein (1993)Genetic mapping of a locus predisposing to human colorectal cancer.
Science, 260 5109
I. Tomlinson, S. Halford, L. Aaltonen, N. Hawkins, R. Ward (2002)Does MSI‐low exist?
The Journal of Pathology, 197
Yanfa Yan, S. Pennycook (2000)Alloys: Atomic structure of the quasicrystal Al72Ni20Co8
D. Chung, A. Rustgi (2003)The Hereditary Nonpolyposis Colorectal Cancer Syndrome: Genetics and Clinical Implications
Annals of Internal Medicine, 138
B. Dieumegard, S. Grandjouan, J. Sabourin, M. Bihan, I. Lefrère, Bellefqih, J. Pignon, P. Rougier, P. Lasser, J. Bénard, Daniel Couturier, B. Paillerets (2000)Extensive molecular screening for hereditary non-polyposis colorectal cancer
British Journal of Cancer, 82
M. Perucho (1996)Cancer of the microsatellite mutator phenotype.
Biological chemistry, 377 11
HP Wullenweber, C Sutter, F Autschbach (2001)Evaluation of Bethesda guidelines in relation to microsatellite instability
Dis Colon Rectum, 44
M. Colombino, A. Cossu, A. Arba, A. Manca, A. Curci, A. Avallone, G. Comella, G. Botti, F. Scintu, M. Amoruso, D. D’abbicco, M. D’Agnessa, A. Spanu, F. Tanda, G. Palmieri (2003)Microsatellite instability and mutation analysis among southern Italian patients with colorectal carcinoma: detection of different alterations accounting for MLH1 and MSH2 inactivation in familial cases.
Annals of oncology : official journal of the European Society for Medical Oncology, 14 10
J. Jass, K. Biden, M. Cummings, L. Simms, M. Walsh, Estelle Schoch, S. Meltzer, C. Wright, J. Searle, Joanne Young, B. Leggett (1999)Characterisation of a subtype of colorectal cancer combining features of the suppressor and mild mutator pathways.
Journal of Clinical Pathology, 52
M. Kane, M. Loda, Gretchen Gaida, J. Lipman, R. Mishra, H. Goldman, J. Jessup, R. Kolodner (1997)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 research, 57 5
R. Pyatt, R. Chadwick, C. Johnson, C. Adebamowo, A. Chapelle, T. Prior (1999)Polymorphic variation at the BAT-25 and BAT-26 loci in individuals of African origin. Implications for microsatellite instability testing.
The American journal of pathology, 155 2
J. Jass (2004)Hyperplastic polyps and colorectal cancer: is there a link?
Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association, 2 1
T. Bocker, Johannes Diermann, Waltraut Friedi, J. Gebert, E. Holinski-Feder, J. Karner-Hanusch, M. Knebel-Doeberitz, Konrad Koelbie, Gabnela Moeslein, H. Schackert, H. Wirtz, R. Fishel, J. Ruschoff (1997)Microsatellite instability analysis: a multicenter study for reliability and quality control.
Cancer research, 57 21
Micheline Strand, T. Prolla, R. Liskay, T. Petes (1993)Destabilization of tracts of simple repetitive DNA in yeast by mutations affecting DNA mismatch repair
G. Lanza, R. Gafà, I. Maestri, A. Santini, M. Matteuzzi, L. Cavazzini (2002)Immunohistochemical Pattern of MLH1/MSH2 Expression Is Related to Clinical and Pathological Features in Colorectal Adenocarcinomas with Microsatellite Instability
Modern Pathology, 15
A. Liljegren, Annika Lindblom, Sam Rotstein, Bo Nilsson, C. Rubio, Edgar Jaramillo (2003)Prevalence and incidence of hyperplastic polyps and adenomas in familial colorectal cancer: correlation between the two types of colon polyps
A. Ruszkiewicz, G. Bennett, J. Moore, J. Manavis, Barney Rudzki, Linda Shen, G. Suthers (2002)Correlation of mismatch repair genes immunohistochemistry and microsatellite instability status in HNPCC‐associated tumours
R. Jacoby, D. Marshall, Sujatha Kailas, S. Schlack, B. Harms, R. Love (1995)Genetic instability associated with adenoma to carcinoma progression in hereditary nonpolyposis colon cancer.
Gastroenterology, 109 1
C. Arnold, A. Goel, C. Boland (2003)Role of hMLH1 promoter hypermethylation in drug resistance to 5‐fluorouracil in colorectal cancer cell lines
International Journal of Cancer, 106
J. Wijnen, Wiljo Leeuw, H. Vasen, H. Klift, P. Møller, A. Stormorken, H. Meijers-Heijboer, D. Lindhout, F. Menko, S. Vossen, G. Möslein, C. Tops, A. Bröcker-Vriends, Ying Wu, R. Hofstra, R. Sijmons, C. Cornelisse, H. Morreau, R. Fodde (1999)Familial endometrial cancer in female carriers of MSH6 germline mutations
Nature Genetics, 23
W. Samowitz, M. Slattery, J. Potter, M. Leppert (1999)BAT-26 and BAT-40 instability in colorectal adenomas and carcinomas and germline polymorphisms.
The American journal of pathology, 154 6
M. Risio, G. Reato, P. Celle, M. Fizzotti, F. Rossini, R. Foà (1996)Microsatellite instability is associated with the histological features of the tumor in nonfamilial colorectal cancer.
Cancer research, 56 23
P. Peltomäki (2003)Role of DNA mismatch repair defects in the pathogenesis of human cancer.
Journal of clinical oncology : official journal of the American Society of Clinical Oncology, 21 6
L. Aaltonen, P. Peltomäki, F. Leach, P. Sistonen, L. Pylkkänen, J. Mecklin, H. Järvinen, S. Powell, J. Jen, S. Hamilton, G. Petersen, K. Kinzler, B. Vogelstein, A. Chapelle (1993)Clues to the pathogenesis of familial colorectal cancer.
Science, 260 5109
F. Rijcken, T. Sluis, H. Hollema, J. Kleibeuker (2003)Hyperplastic polyps in hereditary nonpolyposis colorectal cancer.
The American Journal of Gastroenterology, 98
Hoguen Kim, J. Jen, B. Vogelstein, S. Hamilton (1994)Clinical and pathological characteristics of sporadic colorectal carcinomas with DNA replication errors in microsatellite sequences.
The American journal of pathology, 145 1
Wolfgang, Dietmaier, Sabine, Wallinger, Tina, Bocker, Frank, Kullmann, Richard, Fishel, Josef, RÃ schoff (1997)Diagnostic microsatellite instability: definition and correlation with mismatch repair protein expression.
Cancer research, 57 21
R. Sankila, L. Aaltonen, H. Järvinen, J. Mecklin (1996)Better survival rates in patients with MLH1-associated hereditary colorectal cancer.
Gastroenterology, 110 3
J. Bacher, Laura Flanagan, Regenia Smalley, Nadine Nassif, L. Burgart, R. Halberg, W. Megid, S. Thibodeau (2004)Development of a Fluorescent Multiplex Assay for Detection of MSI-High Tumors
Disease markers, 20
Hai-Yan Yan, N. Papadopoulos, G. Marra, C. Perrera, J. Jiricny, C. Boland, Henry Lynch, R. Chadwick, A. Chapelle, K. Berg, J. Eshleman, Weishi Yuan, S. Markowitz, S. Laken, C. Lengauer, K. Kinzler, B. Vogelstein (2000)Conversion of diploidy to haploidy
A. Jong, M. Puijenbroek, Y. Hendriks, C. Tops, J. Wijnen, M. Ausems, H. Meijers-Heijboer, A. Wagner, T. Os, A. Bröcker-Vriends, H. Vasen, H. Morreau (2004)Microsatellite Instability, Immunohistochemistry, and Additional PMS2 Staining in Suspected Hereditary Nonpolyposis Colorectal Cancer
Clinical Cancer Research, 10
J. Jass, K. Do, L. Simms, H. Iino, C. Wynter, S. Pillay, J. Searle, G. Radford-Smith, Joanne Young, B. Leggett (1998)Morphology of sporadic colorectal cancer with DNA replication errors
J. Plaschke, Christiane Kruppa, René Tischler, T. Bocker, S. Pistorius, H. Dralle, J. Rüschoff, H. Saeger, R. Fishel, H. Schackert (2000)Sequence analysis of the mismatch repair gene hMSH6 in the germline of patients with familial and sporadic colorectal cancer
International Journal of Cancer, 85
R. Gryfe, Hyeja Kim, E. Hsieh, M. Aronson, E. Holowaty, S. Bull, M. Redston, S. Gallinger (2000)Tumor microsatellite instability and clinical outcome in young patients with colorectal cancer.
The New England journal of medicine, 342 2
W. Samowitz, M. Slattery (1997)Microsatellite instability in colorectal adenomas.
Gastroenterology, 112 5
C. Allegra, George Kim, I. Kirsch (2003)Microsatellite instability in colon cancer.
The New England journal of medicine, 349 18
N. Suraweera, A. Duval, Maryline Répérant, C. Vaury, D. Furlan, K. Leroy, R. Seruca, B. Iacopetta, R. Hamelin (2002)Evaluation of tumor microsatellite instability using five quasimonomorphic mononucleotide repeats and pentaplex PCR.
Gastroenterology, 123 6
C. Ribic, D. Sargent, M. Moore, S. Thibodeau, A. French, R. Goldberg, S. Hamilton, P. Laurent-Puig, R. Gryfe, L. Shepherd, D. Tu, M. Redston, S. Gallinger (2003)Tumor microsatellite-instability status as a predictor of benefit from fluorouracil-based adjuvant chemotherapy for colon cancer.
The New England journal of medicine, 349 3
F. Leach, N. Nicolaides, N. Papadopoulos, Bo Liu, J. Jen, R. Parsons, P. Peltomäki, P. Sistonen, L. Aaltonen, M. Nyström-Lahti, X. Guan, Ji Zhang, P. Meltzer, Jing Yu, F. Kao, David Chen, K. Cerosaletti, R. Fournier, S. Todd, T. Lewis, R. Leach, S. Naylor, J. Weissenbach, J. Mecklin, H. Järvinen, G. Petersen, S. Hamilton, Jane Green, J. Jass, P. Watson, H. Lynch, J. Trent, A. Chapelle, K. Kinzler, B. Vogelstein (1993)Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer
H. Lynch, T. Smyrk, J. Jass (1995)Hereditary nonpolyposis colorectal cancer and colonic adenomas: aggressive adenomas?
Seminars in surgical oncology, 11 6
J. Terdiman, J. Gum, P. Conrad, G. Miller, V. Weinberg, S. Crawley, T. Levin, C. Reeves, A. Schmitt, M. Hepburn, M. Sleisenger, Y. Kim (2001)Efficient detection of hereditary nonpolyposis colorectal cancer gene carriers by screening for tumor microsatellite instability before germline genetic testing.
Gastroenterology, 120 1
W. Müller, L. Burgart, R. Krause‐Paulus, S. Thibodeau, M. Almeida, T. Edmonston, C. Boland, C. Sutter, J. Jass, A. Lindblom, J. Lubiński, K. Macdermot, D. Sanders, H. Morreau, A. Müller, C. Oliani, T. Ørntoft, M. Leòn, C. Rosty, M. Rodriguez-Bigas, J. Rüschoff, A. Ruszkiewicz, J. Sabourin, R. Salovaara, G. Möslein (2001)The reliability of immunohistochemistry as a prescreening method for the diagnosis of hereditary nonpolyposis colorectal cancer (HNPCC) – Results of an international collaborative study
Familial Cancer, 1
A. Hemminki, A. Hemminki, J. Mecklin, H. Järvinen, L. Aaltonen, H. Joensuu (2000)Microsatellite instability is a favorable prognostic indicator in patients with colorectal cancer receiving chemotherapy.
Gastroenterology, 119 4
S. Thibodeau, A. French, J. Cunningham, D. Tester, L. Burgart, P. Roche, S. McDonnell, D. Schaid, C. Vockley, V. Michels, G. Farr, M. O’connell (1998)Microsatellite instability in colorectal cancer: different mutator phenotypes and the principal involvement of hMLH1.
Cancer research, 58 8
K. Kinzler, B. Vogelstein (1996)Lessons from Hereditary Colorectal Cancer
Y. Ionov, María Peinado, S. Malkhosyan, D. Shibata, M. Perucho (1993)Ubiquitous somatic mutations in simple repeated sequences reveal a new mechanism for colonic carcinogenesis
M. Leon, M. Pedroni, P. Benatti, A. Percesepe, C. Gregorio, M. Foroni, G. Rossi, M. Genuardi, G. Neri, Francesca Leonardi, A. Viel, E. Capozzi, M. Boiocchi, L. Roncucci (1999)Hereditary colorectal cancer in the general population: from cancer registration to molecular diagnosis
B. Vogelstein, E. Fearon, S. Hamilton, S. Kern, Antonette Preisinger, M. Leppert, Y. Nakamura, R. White, A. Smits, J. Bos (1988)Genetic alterations during colorectal-tumor development.
The New England journal of medicine, 319 9
S. Wahlberg, J. Schmeits, G. Thomas, M. Loda, J. Garber, S. Syngal, R. Kolodner, E. Fox (2002)Evaluation of microsatellite instability and immunohistochemistry for the prediction of germ-line MSH2 and MLH1 mutations in hereditary nonpolyposis colon cancer families.
Cancer research, 62 12
Xiao-ping Zhou, J. Hoang, You-jun Li, R. Seruca, F. Carneiro, M. Sobrinho-Simões, R. Lothe, Catherine Gleeson, S. Russell, F. Muzeau, J. Fléjou, K. Hoang-Xuan, R. Lidereau, G. Thomas, R. Hamelin (1998)Determination of the replication error phenotype in human tumors without the requirement for matching normal DNA by analysis of mononucleotide repeat microsatellites
R. Lothe, P. Peltomäki, G. Meling, L. Aaltonen, M. Nyström-Lahti, L. Pylkkänen, K. Heimdal, T. Andersen, Pal Mller, T. Rognum, S. Fosså, T. Haldorsen, F. Langmark, Anton gger, A. Chapelle, Anne rresen (1993)Genomic instability in colorectal cancer: relationship to clinicopathological variables and family history.
Cancer research, 53 24
A. Wagner, Y. Hendriks, E. Meijers-Heijboer, Wiljo Leeuw, H. Morreau, R. Hofstra, C. Tops, E. Bik, A. Bröcker-Vriends, C. Meer, D. Lindhout, H. Vasen, M. Breuning, C. Cornelisse, C. Krimpen, M. Niermeijer, A. Zwinderman, J. Wijnen, R. Fodde (2001)Atypical HNPCC owing to MSH6 germline mutations: analysis of a large Dutch pedigree
Journal of Medical Genetics, 38
P. Peltomäki, R. Lothe, L. Aaltonen, L. Pylkkänen, M. Nyström-Lahti, R. Seruca, L. David, R. Holm, D. Ryberg, A. Haugen, A. Brøgger, A. Børresen, A. Chapelle (1993)Microsatellite instability is associated with tumors that characterize the hereditary non-polyposis colorectal carcinoma syndrome.
Cancer research, 53 24
R. Fishel, M. Lescoe, M. Rao, N. Copeland, N. Jenkins, J. Garber, M. Kane, R. Kolodner (1993)The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer
It is now generally recognized that a specific subset of those patients clinically defined as having hereditary non polyposis colon cancer (HNPCC) have germline mutations in any one of several genes involved in DNA mismatch repair (MMR). This important subset of HNPCC families is now defined as having Lynch syndrome. A considerable amount of data has shown that tumors from patients with Lynch syndrome have characteristic features resulting from the underlying molecular involvement of defective MMR, that is, the presence of microsatellite instability (MSI) and the absence of MMR protein expression by immunohistochemistry (IHC). As a result, identifying patients with Lynch syndrome can now be accomplished by testing tumors for these tumor-related changes. Together, MSI and IHC are powerful tools that help identify individuals at risk for having Lynch syndrome and to distinguish these cases from HNPCC cases with other hereditary gene defects. Furthermore, IHC analysis provides valuable clues as to which MMR gene is mutated, allowing for comprehensive mutational analyses of that gene. Here, we discuss the current and historical perspectives regarding MSI and IHC analyses in tumors from sporadic colon cancer and from patients with Lynch syndrome. Given this background, we also provide a testing strategy for the identification of patients at risk for Lynch syndrome and subsequent gene testing.
Familial Cancer – Springer Journals
Published: Aug 4, 2004
Access the full text.
Sign up today, get DeepDyve free for 14 days.