Gain of chromosomal region 20q and loss of 18 discriminates between Lynch syndrome and familial colorectal cancer

European Journal of Cancer

Volumn 49, Issue 6, 2013, Pages 1226-1235

  Therkildsen, Christina ^a   Jönsson, Göran ^b   Dominguez Valentin, Mev ^b   Nissen, Anja ^a   Rambech, Eva ^b   Halvarsson, Britta ^c   Bernstein, Inge ^a   Borg, Åke ^b   Nilbert, Mef ^a,b  

^a Mental Health Services CPH   (Denmark)

^b LUND UNIVERSITY   (Sweden)

^c Aleris Medilab   (Sweden)

Author keywords

Array based comparative genomic hybridisation; HNPCC; Microsatellite instability; MMR deficiency

Indexed keywords

ADULT; AGED; ARTICLE; CANCER SUSCEPTIBILITY; CHROMOSOME 15; CHROMOSOME 17; CHROMOSOME 18; CHROMOSOME 19; CHROMOSOME 1P; CHROMOSOME 20Q; CHROMOSOME 8P; CHROMOSOME LOSS; FEMALE; GENE EXPRESSION; GENETIC ASSOCIATION; HEREDITARY COLORECTAL CANCER; HEREDITARY NONPOLYPOSIS COLORECTAL CANCER; HUMAN; MALE; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL;

ADULT; AGED; AGED, 80 AND OVER; CHROMOSOME ABERRATIONS; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 18; CHROMOSOMES, HUMAN, PAIR 20; COLORECTAL NEOPLASMS; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; COMPARATIVE GENOMIC HYBRIDIZATION; DIAGNOSIS, DIFFERENTIAL; DNA COPY NUMBER VARIATIONS; FAMILY HEALTH; FEMALE; GENE DUPLICATION; HUMANS; MALE; MIDDLE AGED; REPRODUCIBILITY OF RESULTS; SENSITIVITY AND SPECIFICITY;

EID: 84875731688     PISSN: 09598049     EISSN: 18790852     Source Type: Journal    
DOI: 10.1016/j.ejca.2012.11.011     Document Type: Article

References (40)

1. W.M. Abdel-Rahman, and P. Peltomaki Lynch syndrome and related familial colorectal cancers Crit Rev Oncog 14 2008 1 22
2. P. Benatti, L. Roncucci, and D. Ganazzi Clinical and biologic heterogeneity of hereditary nonpolyposis colorectal cancer Int J Cancer 95 2001 323 328
3. P. Lichtenstein, N.V. Holm, and P.K. Verkasalo Environmental and heritable factors in the causation of cancer-analyses of cohorts of twins from Sweden, Denmark, and Finland N Engl J Med 343 2000 78 85
4. H.F. Vasen, J.P. Mecklin, P.M. Khan, and H.T. Lynch The International Collaborative Group on Hereditary Non-Polyposis Colorectal Cancer (ICG-HNPCC) Dis Colon Rectum 34 1991 424 425
5. H.F. Vasen, P. Watson, J.P. Mecklin, and H.T. Lynch New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative Group on HNPCC Gastroenterology 116 1999 1453 1456
6. N.M. Lindor, K. Rabe, and G.M. Petersen Lower cancer incidence in Amsterdam-I criteria families without mismatch repair deficiency: familial colorectal cancer type X JAMA 293 2005 1979 1985
7. J.R. Jass Classification of colorectal cancer based on correlation of clinical, morphological and molecular features Histopathology 50 2007 113 130
8. S.C. Chang, J.K. Lin, and S.H. Yang Relationship between genetic alterations and prognosis in sporadic colorectal cancer Int J Cancer 118 2006 1721 1727
9. K. Trautmann, J.P. Terdiman, and A.J. French Chromosomal instability in microsatellite-unstable and stable colon cancer Clin Cancer Res 12 2006 6379 6385
10. J. Camps, G. Armengol, and J. del Rey Genome-wide differences between microsatellite stable and unstable colorectal tumors Carcinogenesis 27 2006 419 428
11. S. Lassmann, R. Weis, and F. Makowiec Array CGH identifies distinct DNA copy number profiles of oncogenes and tumor suppressor genes in chromosomal- and microsatellite-unstable sporadic colorectal carcinomas J Mol Med 85 2007 293 304
12. M. Berg, T.H. Agesen, and E. Thiis-Evensen Distinct high resolution genome profiles of early onset and late onset colorectal cancer integrated with gene expression data identify candidate susceptibility loci Mol Cancer 9 2010 100
13. J.R. Jass, M.D. Walsh, M. Barker, L.A. Simms, J. Young, and B.A. Leggett Distinction between familial and sporadic forms of colorectal cancer showing DNA microsatellite instability Eur J Cancer 38 2002 858 866
14. W.S. Lee, G. Seo, and H.J. Shin Identification of differentially expressed genes in microsatellite stable HNPCC and sporadic colon cancer J Surg Res 144 2008 29 35
15. J. Young, L.A. Simms, and K.G. Biden Features of colorectal cancers with high-level microsatellite instability occurring in familial and sporadic settings: parallel pathways of tumorigenesis Am J Pathol 159 2001 2107 2116
16. M. van Puijenbroek, A. Middeldorp, and C.M. Tops Genome-wide copy neutral LOH is infrequent in familial and sporadic microsatellite unstable carcinomas Fam Cancer 7 2008 319 330
17. J. Cardoso, L. Molenaar, and R.X. de Menezes Chromosomal instability in MYH- and APC-mutant adenomatous polyps Cancer Res 66 2006 2514 2519
18. A. Middeldorp, P.M. Van, and M. Nielsen High frequency of copy-neutral LOH in MUTYH-associated polyposis carcinomas J Pathol 216 2008 25 31
19. A. Sanchez-de-Abajo, M. de la Hoya, and M. van Puijenbroek Molecular analysis of colorectal cancer tumors from patients with mismatch repair proficient hereditary nonpolyposis colorectal cancer suggests novel carcinogenic pathways Clin Cancer Res 13 2007 5729 5735
20. A. Middeldorp, S.C. Jagmohan-Changur, and H.M. van der Klift Comprehensive genetic analysis of seven large families with mismatch repair proficient colorectal cancer Genes Chromosomes Cancer 49 2010 539 548
21. A. Middeldorp, R. van Eijk, and J. Oosting Increased frequency of 20q gain and copy-neutral loss of heterozygosity in mismatch repair proficient familial colorectal carcinomas Int J Cancer 130 2012 837 846
22. W.M. Abdel-Rahman, M. Ollikainen, and R. Kariola Comprehensive characterization of HNPCC-related colorectal cancers reveals striking molecular features in families with no germline mismatch repair gene mutations Oncogene 24 2005 1542 1551
23. M. Nilbert, C. Therkildsen, A. Nissen, M. Akerman, and I. Bernstein Sarcomas associated with hereditary nonpolyposis colorectal cancer: broad anatomical and morphological spectrum Fam Cancer 8 2009 209 213
24. B. Halvarsson, A. Lindblom, E. Rambech, K. Lagerstedt, and M. Nilbert Microsatellite instability analysis and/or immunostaining for the diagnosis of hereditary nonpolyposis colorectal cancer? Virchows Arch 444 2004 135 141
25. G. Jonsson, J. Staaf, and E. Olsson High-resolution genomic profiles of breast cancer cell lines assessed by tiling BAC array comparative genomic hybridization Genes Chromosomes Cancer 46 2007 543 558
26. L.H. Saal, C. Troein, and J. Vallon-Christersson BioArray Software Environment (BASE): a platform for comprehensive management and analysis of microarray data Genome Biol 3 2002 SOFTWARE0003
27. J. Staaf, G. Jonsson, M. Ringner, and J. Vallon-Christersson Normalization of array-CGH data: influence of copy number imbalances BMC Genomics 8 2007 382
28. A.I. Saeed, V. Sharov, and J. White TM4: a free, open-source system for microarray data management and analysis Biotechniques 34 2003 374 378
29. A. Leslie, A. Stewart, and D.U. Baty Chromosomal changes in colorectal adenomas: relationship to gene mutations and potential for clinical utility Genes Chromosomes Cancer 45 2006 126 135
30. C. Nicolet, E. Guerin, and A. Neuville Evidence for various 20q status using allelotyping, CGH arrays, and quantitative PCR in distal CIN colon cancers Cancer Lett 18 282 2009 Sep 195 204
31. Y. Tabach, I. Kogan-Sakin, and Y. Buganim Amplification of the 20q chromosomal arm occurs early in tumorigenic transformation and may initiate cancer PLoS One 6 2011 e14632
32. A.H. Sillars-Hardebol, B. Carvalho, and M. Tijssen TPX2 and AURKA promote 20q amplicon-driven colorectal adenoma to carcinoma progression Gut 2011 doi: 101136/glutjnl-2011-301153
33. J.K. Habermann, C.A. Brucker, and S. Freitag-Wolf Genomic instability and oncogene amplifications in colorectal adenomas predict recurrence and synchronous carcinoma Mod Pathol 24 2011 542 555
34. T.E. Buffart, N.C. van Grieken, and M. Tijssen High resolution analysis of DNA copy-number aberrations of chromosomes 8, 13, and 20 in gastric cancers Virchows Arch 455 2009 213 223
35. C.H. Wilson, R.E. McIntyre, M.J. Arends, and D.J. Adams The activating mutation R201C in GNAS promotes intestinal tumourigenesis in Apc(Min/+) mice through activation of Wnt and ERK1/2 MAPK pathways Oncogene 29 2010 4567 4575
36. G. Pasz-Walczak, A. Salagacka, P. Potemski, E. Balcerczak, R. Kordek, and M. Mirowski Maspin and Nm23-H1 expression in colorectal cancer Neoplasma 57 2010 95 101
37. M.L. Larramendy, W. El-Rifai, and A. Kokkola Comparative genomic hybridization reveals differences in DNA copy number changes between sporadic gastric carcinomas and gastric carcinomas from patients with hereditary nonpolyposis colorectal cancer Cancer Genet Cytogenet 106 1998 62 65
38. W.S. Park, J.Y. Park, and R.R. Oh A distinct tumor suppressor gene locus on chromosome 15q21.1 in sporadic form of colorectal cancer Cancer Res 60 2000 70 73
39. A.S. Fawole, D.J. Simpson, and R. Rajagopal Loss of heterozygosity on chromosome 10q is associated with earlier onset sporadic colorectal adenocarcinoma Int J Cancer 99 2002 829 833
40. S. Popat, J. Stone, and R.S. Houlston Allelic imbalance in colorectal cancer at the CRAC1 locus in early-onset colorectal cancer Cancer Genet Cytogenet 145 2003 70 73