Access the full text.
Sign up today, get DeepDyve free for 14 days.
T. Xi, I. Jones, H. Mohrenweiser (2004)
Many amino acid substitution variants identified in DNA repair genes during human population screenings are predicted to impact protein function.Genomics, 83 6
F. Bishehsari, M. Mahdavinia, R. Malekzadeh, F. Verginelli, Teresa Catalano, M. Sotoudeh, V. Bazan, V. Agnese, D. Esposito, L. Lellis, D. Semeraro, G. Colucci, Mahshid Hormazdi, N. Rakhshani, A. Cama, M. Piantelli, S. Iacobelli, A. Russo, R. Mariani-Costantini (2006)
Patterns of K-ras mutation in colorectal carcinomas from Iran and Italy (a Gruppo Oncologico dell'Italia Meridionale study): influence of microsatellite instability status and country of origin.Annals of oncology : official journal of the European Society for Medical Oncology, 17 Suppl 7
William Bottomley, M. Soos, Claire Adams, T. Guran, Trevor Howlett, A. Mackie, J. Miell, J. Monson, R. Temple, Y. Tenenbaum‐Rakover, J. Tymms, David Savage, Robert Semple, Stephen O’Rahilly, Inês Barroso (2009)
IRS2 variants and syndromes of severe insulin resistanceDiabetologia, 52
D. Esposito, S. Mammarella, A. Ranieri, F. Loggia, F. Capani, A. Consoli, R. Mariani-Costantini, F. Caramia, A. Cama, P. Battista (1996)
Deletion of Gly723 in the insulin receptor substrate‐1 of a patient with noninsulin‐dependent diabetes mellitusHuman Mutation, 7
G. Bommer, Ying Feng, A. Iura, T. Giordano, R. Kuick, H. Kadikoy, Deanna Sikorski, R. Wu, Kathleen Cho, E. Fearon (2009)
IRS1 Regulation by Wnt/β-Catenin Signaling and Varied Contribution of IRS1 to the Neoplastic PhenotypeThe Journal of Biological Chemistry, 285
D. Parsons, Tian-Li Wang, Yardena Samuels, A. Bardelli, A. Bardelli, Jordan Cummins, Laura Delong, N. Silliman, J. Ptak, Steve Szabo, J. Willson, S. Markowitz, K. Kinzler, B. Vogelstein, C. Lengauer, V. Velculescu (2005)
Colorectal cancer: Mutations in a signalling pathwayNature, 436
M. Slattery, W. Samowitz, K. Curtin, K. Ma, Michael Hoffman, B. Caan, S. Neuhausen (2004)
Associations among IRS1, IRS2, IGF1, and IGFBP3 genetic polymorphisms and colorectal cancer.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology, 13 7
R. Palmirotta, Sabino Matera, M. Curia, G. Aceto, Bassam Zhobi, F. Verginelli, F. Guadagni, V. Casale, V. Stigliano, L. Messerini, R. Mariani-Costantini, P. Battista, A. Cama (2004)
Correlations between Phenotype and Microsatellite Instability in HNPCC: Implications for Genetic TestingFamilial Cancer, 3
R. Dearth, X. Cui, Hyun‐Jung Kim, I. Kuiatse, Nicole Lawrence, Xiaomei Zhang, J. Divisová, Ora Britton, S. Mohsin, D. Allred, D. Hadsell, Adrian Lee (2006)
Mammary Tumorigenesis and Metastasis Caused by Overexpression of Insulin Receptor Substrate 1 (IRS-1) or IRS-2Molecular and Cellular Biology, 26
F. Celi, C. Negri, K. Tanner, N. Raben, F. Pablo, A. Rovira, L. Pallardo, P. Martín-Vaquero, M. Stern, B. Mitchell, A. Shuldiner (2000)
Molecular scanning for mutations in the insulin receptor substrate‐1 (IRS‐1) gene in Mexican Americans with Type 2 diabetes mellitusDiabetes/Metabolism Research and Reviews, 16
G. Giannini, Christian Rinaldi, Elisabetta Ristori, M. Ambrosini, F. Cerignoli, A. Viel, E. Bidoli, S. Berni, G. d’Amati, G. Scambia, L. Frati, I. Screpanti, A. Gulino (2004)
Mutations of an intronic repeat induce impaired MRE11 expression in primary human cancer with microsatellite instabilityOncogene, 23
M. Laakso, M. Malkki, P. Kekäläinen, J. Kuusisto, S. Deeb (1994)
Insulin receptor substrate-1 variants in non-insulin-dependent diabetes.The Journal of clinical investigation, 94 3
S. Ura, Dr. Araki, H. Kishikawa, T. Shirotani, M. Todaka, S. Isami, S. Shimoda, R. Yoshimura, K. Matsuda, S. Motoyoshi, N. Miyamura, C. Kahn, M. Shichiri (2004)
Molecular scanning of the insulin receptor substrate-1 (IRS-1) gene in Japanese patients with NIDDM: identification of five novel polymorphismsDiabetologia, 39
Christopher Heinen, D. Richardson, R. White, J. Groden (1995)
Microsatellite instability in colorectal adenocarcinoma cell lines that have full-length adenomatous polyposis coli protein.Cancer research, 55 21
M. White (2002)
IRS proteins and the common path to diabetes.American journal of physiology. Endocrinology and metabolism, 283 3
J. Whitehead, P. Humphreys, A. Krook, R. Jackson, A. Hayward, H. Lewis, K. Siddle, S. O’Rahilly (1998)
Molecular scanning of the insulin receptor substrate 1 gene in subjects with severe insulin resistance: detection and functional analysis of a naturally occurring mutation in a YMXM motif.Diabetes, 47 5
Dolores Bernal, K. Almind, Lynne Yenush, Melissa Ayoub, Yitao Zhang, Leyla Rosshani, Catharina Larsson, O. Pedersen, Morris White (1998)
Insulin receptor substrate-2 amino acid polymorphisms are not associated with random type 2 diabetes among Caucasians.Diabetes, 47 6
T. Yamauchi, K. Ueki, K. Tobe, H. Tamemoto, N. Sekine, M. Wada, M. Honjo, M. Takahashi, T. Takahashi, H. Hirai, T. Tsushima, Y. Akanuma, T. Fujita, I. Komuro, Y. Yazaki, T. Kadowaki (1998)
Growth hormone-induced tyrosine phosphorylation of EGF receptor as an essential element leading to MAP kinase activation and gene expression.Endocrine journal, 45 Suppl
L. McGuffog, S. Healey, E. Friedman, Y. Laitman, S. Paluch-Shimon, B. Kaufman, A. Liljegren, A. Lindblom, H. Olsson, U. Kristoffersson, M. Stenmark-Askmalm, B. Melin, S. Domchek, K. Nathanson, T. Rebbeck, A. Jakubowska, J. Lubiński, Katarzyna Jaworska, K. Durda, J. Gronwald, T. Huzarski, C. Cybulski, T. Byrski, A. Osorio, T. Cajal, A. Stavropoulou, J. Benítez, U. Hamann, M. Rookus, C. Aalfs, J. Lange, H. Meijers-Heijboer, J. Oosterwijk, C. Asperen, E. Garcia, N. Hoogerbrugge, A. Jager, R. Luijt, D. Easton, S. Peock, D. Frost, Steve Ellis, Radka Platte, E. Fineberg, D. Evans, F. Lalloo, L. Izatt, R. Eeles, J. Adlard, R. Davidson, D. Eccles, T. Cole, J. Cook, C. Brewer, M. Tischkowitz, A. Godwin, H. Pathak, D. Stoppa-Lyonnet, O. Sinilnikova, S. Mazoyer, L. Barjhoux, M. Léoné, M. Gauthier‐Villars, V. Caux‐Moncoutier, Antoine Pauw, A. Hardouin, P. Berthet, H. Dreyfus, Sandra Ferrer, M. Collonge-Rame, Johanna Sokolowska, S. Buys, M. Daly, A. Miron, M. Terry, W. Chung, E. John, M. Southey, D. Goldgar, C. Singer, M. Tea, D. Gschwantler-Kaulich, A. Fink-Retter, T. Hansen, B. Ejlertsen, O. Johannsson, K. Offit, Kara Sarrel, M. Gaudet, J. Vijai, M. Robson, M. Piedmonte, L. Andrews, D. Cohn, L. Demars, P. DiSilvestro, G. Rodriguez, A. Toland, M. Montagna, S. Agata, E. Imyanitov, C. Isaacs, R. Janavicius, C. Lázaro, I. Blanco, S. Ramus, Lara Sucheston, B. Karlan, J. Gross, P. Ganz, M. Beattie, R. Schmutzler, B. Wappenschmidt, A. Meindl, N. Arnold, D. Niederacher, S. Preisler‐Adams, Dorotehea Gadzicki, R. Varon‐Mateeva, H. Deissler, A. Gehrig, C. Sutter, K. Kast, H. Nevanlinna, K. Aittomäki, J. Simard, A. Spurdle, J. Beesley, Xiaoqing Chen, G. Tomlinson, J. Weitzel, J. Garber, O. Olopade, W. Rubinstein, N. Tung, J. Blum, S. Narod, S. Brummel, D. Gillen, N. Lindor, Z. Fredericksen, V. Pankratz, F. Couch, P. Radice, P. Peterlongo, M. Greene, J. Loud, P. Mai, I. Andrulis, G. Glendon, H. Ozçelik, A. Gerdes, M. Thomassen, U. Jensen, A. Skytte, M. Caligo, Andrew Lee, G. Chenevix-Trench, A. Antoniou, S. Neuhausen (2012)
A Nonsynonymous Polymorphism in IRS1 Modifies Risk of Developing Breast and Ovarian Cancers in BRCA1 and Ovarian Cancer in BRCA2 Mutation CarriersCancer Epidemiology, Biomarkers & Prevention, 21
Q. Chang, Y. Li, M. White, J. Fletcher, S. Xiao (2002)
Constitutive activation of insulin receptor substrate 1 is a frequent event in human tumors: therapeutic implications.Cancer research, 62 21
Nicole Ramocki, H. Wilkins, S. Magness, J. Simmons, B. Scull, Ginny Lee, K. McNaughton, P. Lund (2008)
Insulin receptor substrate-1 deficiency promotes apoptosis in the putative intestinal crypt stem cell region, limits Apcmin/+ tumors, and regulates Sox9.Endocrinology, 149 1
D. Esposito, Federica Aru, R. Lattanzio, A. Morgano, Michela Abbondanza, R. Malekzadeh, F. Bishehsari, R. Valanzano, A. Russo, M. Piantelli, A. Moschetta, L. Lotti, R. Mariani-Costantini (2012)
The Insulin Receptor Substrate 1 (Irs1) in Intestinal Epithelial Differentiation and in Colorectal CancerPLoS ONE, 7
M. Heijden, J. Brody, Elhaam Elghalbzouri-Maghrani, M. Zdzienicka, S. Kern (2006)
Does tumorigenesis select for or against mutations of the DNA repair-associated genes BRCA2 and MRE11?: Considerations from somatic mutations in microsatellite unstable (MSI) gastrointestinal cancersBMC Genetics, 7
X. Sun, Paul Rothenberg, C. Kahn, J. Backer, Eiichi Araki, P. Wilden, D. Cahill, Barry Goldstein, M. White (1991)
Structure of the insulin receptor substrate IRS-1 defines a unique signal transduction proteinNature, 352
White (1998)
The IRS-signaling system: a network of docking proteins that mediate insulin and cytokine actionCurr Top Microbiol Immunol, 228
P. Ng, S. Henikoff (2001)
Predicting deleterious amino acid substitutions.Genome research, 11 5
R. Dearth, X. Cui, Hyun‐Jung Kim, D. Hadsell, Adrian Lee (2007)
Oncogenic Transformation by the Signaling Adaptor Proteins Insulin Receptor Substrate (IRS)-1 and IRS-2Cell Cycle, 6
D. Withers, Julio Gutiérrez, Heather Towery, D. Burks, Jianming Ren, S. Previs, Yitao Zhang, D. Bernal, S. Pons, G. Shulman, S. Bonner-Weir, M. White (1998)
Disruption of IRS-2 causes type 2 diabetes in miceNature, 391
(2004)
Associations among IRS 1 , IRS 2 , IGF 1 , and IGFBP 3 Genetic Polymorphisms and Colorectal Cancer
N. Butte, V. Voruganti, S. Cole, K. Haack, A. Comuzzie, D. Muzny, D. Wheeler, K. Chang, A. Hawes, R. Gibbs (2011)
Resequencing of IRS2 reveals rare variants for obesity but not fasting glucose homeostasis in Hispanic children.Physiological genomics, 43 18
M. White, M. White, L. Yenush, L. Yenush (1998)
The IRS-signaling system: a network of docking proteins that mediate insulin and cytokine action.Recent progress in hormone research, 53
V. Fantin, J. Sparling, J. Slot, S. Keller, G. Lienhard, B. Lavan (1998)
Characterization of Insulin Receptor Substrate 4 in Human Embryonic Kidney 293 Cells*The Journal of Biological Chemistry, 273
Salvatore Modica, A. Morgano, Lorena Salvatore, M. Petruzzelli, Marie-Therese Vanier, R. Valanzano, D. Esposito, G. Palasciano, I. Duluc, Jean-Noël Freund, Renato Mariani-Costantini, A. Moschetta (2009)
Expression and localisation of insulin receptor substrate 2 in normal intestine and colorectal tumours. Regulation by intestine-specific transcription factor CDX2Gut, 58
A. Houghton, D. Rzymkiewicz, H. Ji, A. Gregory, Eduardo Egea, H. Metz, D. Stolz, S. Land, Luiz Marconcini, C. Kliment, K. Jenkins, Keith Beaulieu, M. Mouded, S. Frank, Kwok-kin Wong, S. Shapiro (2010)
Neutrophil Elastase-Mediated Degradation of IRS-1 Accelerates Lung Tumor GrowthNature medicine, 16
D. Esposito, Yunhua Li, C. Vanni, S. Mammarella, S. Veschi, F. Loggia, R. Mariani-Costantini, P. Battista, M. Quon, A. Cama (2003)
A novel T608R missense mutation in insulin receptor substrate-1 identified in a subject with type 2 diabetes impairs metabolic insulin signaling.The Journal of clinical endocrinology and metabolism, 88 4
K. Almind, C. Bjørbaek, Henrik Vestergaard, T. Hansen, S. Echwald, Oluf Pedersen (1993)
Aminoacid polymorphisms of insulin receptor substrate-1 in non-insulin-dependent diabetes mellitusThe Lancet, 342
G. Abecasis, D. Altshuler, A. Auton, L. Brooks, R. Durbin, R. Gibbs, M. Hurles, G. McVean (2010)
A map of human genome variation from population-scale sequencingNature, 467
Jennifer Smith-Hall, S. Pons, M. Patti, D. Burks, Lynne Yenush, X. Sun, C. Kahn, M. White (1997)
The 60 kDa insulin receptor substrate functions like an IRS protein (pp60IRS3) in adipose cells.Biochemistry, 36 27
Yumi Imai, A. Fusco, Yoshifumi Suzuki, Maxine Lesniak, R. D'Alfonso, Giorgio Sesti, A. Bertoli, R. Lauro, Domenico Accili, Simeon Taylor (1994)
Variant sequences of insulin receptor substrate-1 in patients with noninsulin-dependent diabetes mellitus.The Journal of clinical endocrinology and metabolism, 79 6
Eiichi Araki, Myra Lipes, M. Patti, Jens Brüning, B. Haag, Randall Johnson, C. Kahn (1994)
Alternative pathway of insulin signalling in mice with targeted disruption of the IRS-1 geneNature, 372
E. Araki, M. Lipes, M. Patti, J. Brüning, B. Haag, R. Johnson, C. Kahn (1994)
Erratum: Alternative pathway of insulin signalling in mice with targeted disruption of the IRS-1 gene (Nature (1994) 372 (186-190))Nature, 372
The insulin/insulin-like growth factor pathway is involved in breast and colorectal cancer (CRC) development. In the present study, we analyzed the coding region and short intron-exon borders of the insulin receptor substrate 1 and 2 (IRS‑1 and IRS‑2) genes in 12 cell lines derived from breast cancer (BC), 14 cell lines derived from CRC and 33 primary CRCs. The nucleotide variants identified in BC were 3 in IRS‑1, 1 of which (p.Arg267Cys) was novel and with a pathogenic potential as predicted by in silico analysis and 6 in IRS‑2. Twenty‑one variants in IRS‑1 and 18 in IRS‑2 were identified in the CRC samples. These included 11 novel IRS‑1 variants detected exclusively in CRCs, which included 5 missense (p.Pro559Leu, p.Gln655His, p.Asp1014Gly, p.Asp1181His and pPro1203Ser) with a pathogenic potential as predicted by in silico analysis, 2 frameshifts predicted to generate a truncated protein, 1 splice-site mutation and 3 silent variants. In the CRC samples we also identified 7 novel IRS‑2 variants, including 4 missense variants, which included 2 (p.Asp782Asn and p.Gly1230Ser) with a pathogenic potential as predicted by in silico analysis, 2 frame insertion mutations and 1 silent variant. Most of the novel IRS‑1 and IRS‑2 variants may be involved in the modulation of IRS-1 or IRS‑2 functions and could be relevant to breast and colorectal tumorigenesis.
Oncology Reports – Spandidos Publications
Published: Oct 1, 2013
Read and print from thousands of top scholarly journals.
Already have an account? Log in
Bookmark this article. You can see your Bookmarks on your DeepDyve Library.
To save an article, log in first, or sign up for a DeepDyve account if you don’t already have one.
Copy and paste the desired citation format or use the link below to download a file formatted for EndNote
Access the full text.
Sign up today, get DeepDyve free for 14 days.
All DeepDyve websites use cookies to improve your online experience. They were placed on your computer when you launched this website. You can change your cookie settings through your browser.