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Nicolas Charlet-B., P. Logan, Gopal Singh, T. Cooper (2002)Dynamic antagonism between ETR-3 and PTB regulates cell type-specific alternative splicing.
Molecular cell, 9 3
V. Piñol, A. Castells, M. Andreu, S. Castellví-Bel, C. Alenda, X. Llor, R. Xicola, F. Rodríguez-Moranta, A. Payá, R. Jover, X. Bessa (2005)Accuracy of revised Bethesda guidelines, microsatellite instability, and immunohistochemistry for the identification of patients with hereditary nonpolyposis colorectal cancer.
JAMA, 293 16
S. Brunak, J. Engelbrecht, S. Knudsen (1991)Prediction of human mRNA donor and acceptor sites from the DNA sequence.
Journal of molecular biology, 220 1
G. Thomas (1993)[Genetic predisposition to colorectal cancer].
Annales de gastroenterologie et d'hepatologie, 29 3
Henry Lynch, S. Lanspa, T. Smyrk, R. Fitzgibbons, P. Watson, Bruce Boman, J. Lynch, G. Cristofaro (1990)Hereditary Colorectal Cancer
E. Barrow, L. Robinson, W. Alduaij, A. Shenton, T. Clancy, F. Lalloo, James Hill, D. Evans (2009)Cumulative lifetime incidence of extracolonic cancers in Lynch syndrome: a report of 121 families with proven mutations
Clinical Genetics, 75
(2004)Genetic predisposition to colorectal cancer
Nat Rev Cancer, 4
(1997)Improved splice site detection in Genie
J Comput Biol, 4
F. Charbonnier, Cosette Martin, Michel Scotté, Louis Sibert, V. Moreau, Thierry Frebourg (1995)Alternative splicing of MLH1 messenger RNA in human normal cells.
Cancer research, 55 9
(2003)Hereditary colorectal cancer
N Engl J Med, 348
M. Walsh, D. Buchanan, M. Cummings, Sally-Ann Pearson, S. Arnold, M. Clendenning, Rhiannon Walters, D. McKeone, A. Spurdle, J. Hopper, M. Jenkins, K. Phillips, G. Suthers, Jill George, J. Goldblatt, A. Muir, K. Tucker, E. Pelzer, M. Gattas, S. Woodall, S. Parry, F. Macrae, R. Haile, J. Baron, J. Potter, L. Marchand, B. Bapat, S. Thibodeau, N. Lindor, M. McGuckin, Joanne Young (2010)Lynch Syndrome–Associated Breast Cancers: Clinicopathologic Characteristics of a Case Series from the Colon Cancer Family Registry
Clinical Cancer Research, 16
Magnus Wang, A. Marín (2006)Characterization and prediction of alternative splice sites.
Gene, 366 2
Peter Beighton, Greta Beighton (1997)de la Chapelle, A.
U. Jensen, L. Sunde, S. Timshel, Britta Halvarsson, Anja Nissen, I. Bernstein, M. Nilbert (2010)Mismatch repair defective breast cancer in the hereditary nonpolyposis colorectal cancer syndrome
Breast Cancer Research and Treatment, 120
L. Strate, S. Syngal (2005)Hereditary colorectal cancer syndromes
Cancer Causes & Control, 16
N. Faustino, T. Cooper (2005)Identification of Putative New Splicing Targets for ETR-3 Using Sequences Identified by Systematic Evolution of Ligands by Exponential Enrichment
Molecular and Cellular Biology, 25
M. Genuardi, A. Viel, D. Bonora, E. Capozzi, A. Bellacosa, Francesca Leonardi, R. Valle, A. Ventura, M. Pedroni, M. Boiocchi, Giovanni Neri (1998)Characterization of MLH1 and MSH2 alternative splicing and its relevance to molecular testing of colorectal cancer susceptibility
Human Genetics, 102
L. Cartegni, Jinhua Wang, Zhengwei Zhu, Michael Zhang, A. Krainer (2003)ESEfinder: a web resource to identify exonic splicing enhancers
Nucleic acids research, 31 13
S. Shanley, C. Fung, J. Milliken, J. Leary, R. Barnetson, M. Schnitzler, J. Kirk (2009)Breast cancer immunohistochemistry can be useful in triage of some HNPCC families
Familial Cancer, 8
M. Reese, F. Eeckman, D. Kulp, D. Haussler (1997)Improved splice site detection in Genie
Journal of computational biology : a journal of computational molecular cell biology, 4 3
F. Piva, M. Giulietti, L. Nocchi, G. Principato (2009)SpliceAid: a database of experimental RNA target motifs bound by splicing proteins in humans
Bioinformatics, 25 9
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
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
L. Xia, W. Shen, F. Ritacca, A. Mitri, L. Madlensky, T. Berk, Z. Cohen, S. Gallinger, B. Bapat (1996)A truncated hMSH2 transcript occurs as a common variant in the population: implications for genetic diagnosis.
Cancer research, 56 10
F. Bianchi, E. Galizia, R. Catalani, L. Belvederesi, Concetta Ferretti, Fabio Corradini, R. Cellerino (2009)CAT25 is a mononucleotide marker to identify HNPCC patients.
The Journal of molecular diagnostics : JMD, 11 3
P. Peltomäki, H. Vasen (2004)Mutations Associated with HNPCC Predisposition — Update of ICG-HNPCC/INSiGHT Mutation Database
Disease markers, 20
S. Stamm, J. Riethoven, V. Texier, C. Gopalakrishnan, Vasudev Kumanduri, Yesheng Tang, N. Barbosa-Morais, T. Thanaraj (2005)ASD: a bioinformatics resource on alternative splicing
Nucleic Acids Research, 34
M. Scartozzi, F. Bianchi, S. Rosati, E. Galizia, A. Antolini, C. Loretelli, A. Piga, I. Bearzi, R. Cellerino, E. Porfiri (2002)Mutations of hMLH1 and hMSH2 in patients with suspected hereditary nonpolyposis colorectal cancer: correlation with microsatellite instability and abnormalities of mismatch repair protein expression.
Journal of clinical oncology : official journal of the American Society of Clinical Oncology, 20 5
A. Merg, H. Lynch, J. Lynch, J. Howe (2005)Hereditary colorectal cancer-part II.
Current problems in surgery, 42 5
I. Rogozin, L. Milanesi (1997)Analysis of donor splice sites in different eukaryotic organisms
Journal of Molecular Evolution, 45
An intronic mutation in MLH1 35
Maija Kohonen-Corish, Ross Vl, William Doe, Kool Da, E. Edkins, Ian Faragher, J. Wijnen, Khan Pm, Finlay Macrae, St Dj (1996)RNA-based mutation screening in hereditary nonpolyposis colorectal cancer.
American journal of human genetics, 59 4
V. Marcus, L. Madlensky, R. Gryfe, Hyeja Kim, K. So, A. Millar, Larissa Temple, E. Hsieh, T. Hiruki, S. Narod, B. Bapat, S. Gallinger, M. Redston (1999)Immunohistochemistry for hMLH1 and hMSH2: a practical test for DNA mismatch repair-deficient tumors.
The American journal of surgical pathology, 23 10
C. Pagenstecher, Maria Wehner, W. Friedl, N. Rahner, S. Aretz, N. Friedrichs, M. Sengteller, W. Henn, R. Buettner, P. Propping, E. Mangold (2006)Aberrant splicing in MLH1 and MSH2 due to exonic and intronic variants
Human Genetics, 119
S. Arnold, D. Buchanan, M. Barker, L. Jaskowski, M. Walsh, Genevieve Birney, M. Woods, J. Hopper, M. Jenkins, Melissa Brown, S. Tavtigian, D. Goldgar, Joanne Young, A. Spurdle (2009)Classifying MLH1 and MSH2 variants using bioinformatic prediction, splicing assays, segregation, and tumor characteristics
Human Mutation, 30
F. Bianchi, E. Galizia, E. Porfiri, L. Belvederesi, R. Catalani, C. Loretelli, R. Bracci, I. Bearzi, C. Turchi, A. Viel, R. Cellerino (2006)A missense germline mutation in exon 7 of the MSH2 gene in a HNPCC family from center-Italy
Familial Cancer, 6
Richard Seifert, K. Nauhaus, T. Treude, Volker Thiel, M. Blumenberg, K. Knittel, A. Gieseke, K. Peterknecht, Thomas Pape, A. Boetius, Rudolf Amann, Bo Jørgensen, Friedrich Widdel, Jörn Peckmann, Nikolai PimenovPredictive Identification of Exonic Splicing Enhancers in Human Genes
J. Trojan, S. Zeuzem, A. Randolph, Christine Hemmerle, A. Brieger, J. Raedle, G. Plotz, J. Jiricny, G. Marra (2002)Functional analysis of hMLH1 variants and HNPCC-related mutations using a human expression system.
Gastroenterology, 122 1
Single base substitutions can lead to missense mutations, silent mutations or intronic mutations, whose significance is uncertain. Aberrant splicing can occur due to mutations that disrupt or create canonical splice sites or splicing regulatory sequences. The assessment of their pathogenic role may be difficult, and is further complicated by the phenomenon of alternative splicing. We describe an HNPCC patient, with early-onset colorectal cancer and a strong family history of colorectal and breast tumors, who harbours a germ line MLH1 intronic variant (IVS9 c.790 +4A>T). The proband, together with 2 relatives affected by colorectal-cancer and 1 by breast cancer, have been investigated for microsatellite instability, immunohistochemical MMR protein staining, direct sequencing and Multiplex Ligation-dependent Probe Amplification. The effect of the intronic variant was analyzed both by splicing prediction software and by hybrid minigene splicing assay. In this family, we found a novel MLH1 germline intronic variant (IVS9 c.790 +4A>T) in intron 9, consisting of an A to T transversion, in position +4 of the splice donor site of MLH1. The mutation is associated with the lack of expression of the MLH1 protein and MSI in tumour tissues. Furthermore, our results suggest that this substitution leads to a complete skip of both exon 9 and 10 of the mutant allele. Our findings suggest that this intronic variant plays a pathogenic role.
Familial Cancer – Springer Journals
Published: Aug 18, 2010
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