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BioMed Research International
Volume 2013 (2013), Article ID 219897, 7 pages
Contribution of Large Genomic Rearrangements in Italian Lynch Syndrome Patients: Characterization of a Novel Alu-Mediated Deletion
1Dipartmento di Biochimica e Biotecnologie Mediche, Università degli Studi di Napoli Federico II, Via Pansini, 5 80131 Napoli, Italy
2Dipartimento di Discipline Chirurgiche ed Oncologiche, Università degli Studi di Palermo, Via Liborio Giuffrè, 90127 Palermo, Italy
3Department of Biochemistry and Medical Biotechnology and CEINGE-Biotecnologie Avanzate, Università degli Studi di Napoli Federico II, Via Pansini, 5 80131 Napoli, Italy
Received 10 October 2012; Accepted 20 November 2012
Academic Editor: Francesco Baudi
Copyright © 2013 Francesca Duraturo et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
- N. Carlomagno, L. Pelosio, A. Jamshidi et al., “The hereditary syndrome,” in ANDREA RENDA, pp. 107–128, Springe, Milan, Italy, 2009.
- N. Carlomagno, F. Duraturo, G. Rizzo, C. Cremone, P. Izzo, and A. Renda, “Carcinogenesis,” in Multiple Primary Malignancies, A. Renda, Ed., pp. 51–61, Springer, Milan, Italy, 2009.
- P. M. Lynch, “The hMSH2 and hMLH1 genes in hereditary nonpolyposis colorectal cancer,” Surgical Oncology Clinics of North America, vol. 18, no. 4, pp. 611–624, 2009.
- Y. M. C. Hendriks, A. Wagner, H. Morreau et al., “Cancer risk in hereditary nonpolyposis colorectal cancer due to MSH6 mutations: impact on counseling and surveillance,” Gastroenterology, vol. 127, no. 1, pp. 17–25, 2004.
- L. Senter, M. Clendenning, K. Sotamaa et al., “The clinical phenotype of Lynch Syndrome due to germ-line PMS2 mutations,” Gastroenterology, vol. 135, no. 2, pp. 419–428, 2008.
- Y. Wu, M. J. W. Berends, R. H. Sijmons et al., “A role for MLH3 in hereditary nonpolyposis colorectal cancer,” Nature Genetics, vol. 29, no. 2, pp. 137–138, 2001.
- F. Duraturo, R. Liccardo, A. Cavallo, M. D. Rosa, M. Grosso, and P. Izzo, “Association of low-risk MSH3 and MSH2 variant alleles with Lynch syndrome: probability of synergistic effects,” International Journal of Cancer, vol. 129, no. 7, pp. 1643–1650, 2011.
- S. N. Shah, S. E. Hile, and K. A. Eckert, “Defective mismatch repair, microsatellite mutation bias, and variability in clinical cancer phenotypes,” Cancer Research, vol. 70, no. 2, pp. 431–435, 2010.
- G. Chong, J. Jarry, V. Marcus et al., “High frequency of exon deletions and putative founder effects in French Canadian Lynch Syndrome Families,” Human Mutation, vol. 30, no. 8, pp. E797–E812, 2009.
- C. Martínez-Bouzas, E. Ojembarrena, E. Beristain, J. Errasti, N. Viguera, and M. I. Tejada Minguéz, “High proportion of large genomic rearrangements in hMSH2 in hereditary nonpolyposis colorectal cancer (HNPCC) families of the Basque Country,” Cancer Letters, vol. 255, no. 2, pp. 295–299, 2007.
- S. Castellví-Bel, A. Castells, M. Strunk et al., “Genomic rearrangements in MSH2 and MLH1 are rare mutational events in Spanish patients with hereditary nonpolyposis colorectal cancer,” Cancer Letters, vol. 225, no. 1, pp. 93–98, 2005.
- K. Zavodna, T. Krivulcik, M. G. Bujalkova et al., “Partial loss of heterozygosity events at the mutated gene in tumors from MLH1/MSH2 large genomic rearrangement carriers,” BMC Cancer, vol. 9, article 405, 2009.
- F. Di Fiore, F. Charbonnier, C. Martin et al., “Screening for genomic rearrangements of the MMR genes must be included in the routine diagnosis of HNPCC,” Journal of Medical Genetics, vol. 41, no. 1, pp. 18–20, 2004.
- H. van der Klift, J. Wijnen, A. Wagner 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 and Cancer, vol. 44, no. 2, pp. 123–138, 2005.
- M. Kloor, C. Sutter, N. Wentzensen et al., “A large MHS2 Alu insertion mutation causes HNPCC in a German kindred,” Human Genetics, vol. 115, no. 5, pp. 432–438, 2004.
- L. Li, S. McVety, R. Younan et al., “Distinct patterns of germ-line deletions in MLH1 and MSH2: the implication of Alu repetitive element in the genetic etiology of Lynch syndrome (HNPCC),” Human Mutation, vol. 27, no. 4, p. 388, 2006.
- S. Aissi-Ben Moussa, A. Moussa, T. Lovecchio et al., “Identification and characterization of a novel MLH1 genomic rearrangement as the cause of HNPCC in a Tunisian family: evidence for a homologous Alu-mediated recombination,” Familial Cancer, vol. 8, no. 2, pp. 119–126, 2009.
- J. P. Schouten, C. J. McElgunn, R. Waaijer, D. Zwijnenburg, F. Diepvens, and G. Pals, “Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification,” Nucleic Acids Research, vol. 30, no. 12, article e57, 2002.
- D. J. Bunyan, D. M. Eccles, J. Sillibourne et al., “Dosage analysis of cancer predisposition genes by multiplex ligation-dependent probe amplification,” British Journal of Cancer, vol. 91, no. 6, pp. 1155–1159, 2004.
- J. G. Monzon, C. Cremin, L. Armstrong et al., “Validation of predictive models for germline mutations in DNA mismatch repair genes in colorectal cancer,” International Journal of Cancer, vol. 126, no. 4, pp. 930–939, 2010.
- J. Schlegel, T. Bocker, H. Zirngabel, F. Hofstadter, and J. Ruschoff, “Detection of microsatellite instability in human colorectal carcinomas using a non-radioactive PCR-based screening technique,” Virchows Archiv, vol. 426, no. 3, pp. 223–227, 1995.
- C. F. Taylor, R. S. Charlton, J. Burn, E. Sheridan, and G. R. Taylor, “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, vol. 22, no. 6, pp. 428–433, 2003.
- K. M. Murphy, S. Zhang, T. Geiger et al., “Comparison of the microsatellite instability analysis system and the Bethesda panel for the determination of microsatellite instability in colorectal cancers,” Journal of Molecular Diagnostics, vol. 8, no. 3, pp. 305–311, 2006.
- N. Juretic, T. E. Bureau, and R. M. Bruskiewich, “Transposable element annotation of the rice genome,” Bioinformatics, vol. 20, no. 2, pp. 155–160, 2004.
- F. Charbonnier, S. Olschwang, Q. Wang et al., “MSH2 in contrast to MLH1 and MSH6 is frequently inactivated by exonic and promoter rearrangements in hereditary nonpolyposis colorectal cancer,” Cancer Research, vol. 62, no. 3, pp. 848–853, 2002.
- J. Wijnen, H. Van der Klift, H. F. A. Vasen et al., “MSH2 genomic deletions are a frequent cause of HNPCC,” Nature Genetics, vol. 20, no. 4, pp. 326–328, 1998.
- F. Charbonnier, S. Baert-Desurmont, P. Liang et al., “The 5′ region of the MSH2 gene involved in hereditary non-polyposis colorectal cancer contains a high density of recombinogenic sequences,” Human Mutation, vol. 26, no. 3, pp. 255–261, 2005.
- Y. Wang, W. Friedl, C. Lamberti et al., “Hereditary nonpolyposis colorectal cancer: frequent occurrence of large genomic deletions in MSH2 and MLH1 genes,” International Journal of Cancer, vol. 103, no. 5, pp. 636–641, 2003.
- A. Gylling, M. Ridanpää, O. Vierimaa et al., “Large genomic rearrangements and germline epimutations in Lynch syndrome,” International Journal of Cancer, vol. 124, no. 10, pp. 2333–2340, 2009.
- P. Kang, S. Mariapun, S. Y. Phuah et al., “Large BRCA1 and BRCA2 genomic rearrangements in Malaysian high risk breast-ovarian cancer families,” Breast Cancer Research and Treatment, vol. 124, no. 2, pp. 579–584, 2010.
- M. De Rosa, M. Galatola, L. Quaglietta et al., “Alu-mediated genomic deletion of the serine/threonine protein kinase 11 (STK11) gene in peutz-jeghers syndrome,” Gastroenterology, vol. 138, no. 7, pp. 2558–2560, 2010.
- S. L. Martinez and R. D. Kolodner, “Functional analysis of human mismatch repair gene mutations identifies weak alleles and polymorphisms capable of polygenic interactions,” Proceedings of the National Academy of Sciences of the United States of America, vol. 107, no. 11, pp. 5070–5075, 2010.
- H. T. Lynch, J. F. Lynch, C. L. Snyder, and D. Riegert-Johnson, “EPCAM deletions, Lynch syndrome, and cancer risk,” The Lancet Oncology, vol. 12, no. 1, pp. 5–6, 2011.
- M. De Rosa, M. Galatola, S. Borriello, F. Duraturo, S. Masone, and P. Izzo, “Implication of adenomatous polyposis coli and MUTYH mutations in familial colorectal polyposis,” Diseases of the Colon and Rectum, vol. 52, no. 2, pp. 268–274, 2009.
- H. Bläker, G. Mechtersheimer, C. Sutter et al., “Recurrent deletions at 6q in early age of onset non-HNPCC- and non-FAP-associated intestinal carcinomas. Evidence for a novel cancer susceptibility locus at 6q14-q22,” Genes Chromosomes and Cancer, vol. 47, no. 2, pp. 159–164, 2008.
- L. M. Fitzgerald, S. K. McDonnell, E. E. Carlson et al., “Genome-wide linkage analyses of hereditary prostate cancer families with colon cancer provide further evidence for a susceptibility locus on 15q11-q14,” European Journal of Human Genetics, vol. 18, no. 10, pp. 1141–1147, 2010.