Genome-wide copy neutral LOH is infrequent in familial and sporadic microsatellite unstable carcinomas

Familial Cancer

Volumn 7, Issue 4, 2008, Pages 319-330

  Van Puijenbroek, Marjo ^a   Middeldorp, Anneke ^a   Tops, Carli M J ^a   Van Eijk, Ronald ^a   Van Der Klift, Heleen M ^a   Vasen, Hans F A ^b   Wijnen, Juul Th ^a   Hes, Frederik J ^a   Oosting, Jan ^a   Van Wezel, Tom ^a   Morreau, Hans ^a  

^a LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^b Netherlands Foundation for the Detection of Hereditary Tumors   (Netherlands)

Author keywords

Chromosomal instability; Copy neutral loss of heterozygosity; HNPCC; Lynch syndrome; Mismatch repair (MMR) genes; MLH1 hypermethylation; MSI H; SNP array; Unclassified variants

Indexed keywords

ADULT; AGED; ARTICLE; CANCER STAGING; CHROMOSOMAL INSTABILITY; CHROMOSOME ABERRATION; CLINICAL ARTICLE; COLON CANCER; CONTROLLED STUDY; FAMILIAL CANCER; GENE MUTATION; GENETIC ANALYSIS; GENETIC POLYMORPHISM; GENETIC VARIABILITY; HETEROZYGOSITY LOSS; HETEROZYGOTE; HUMAN; IMMUNOHISTOCHEMISTRY; MICROSATELLITE INSTABILITY; MICROSATELLITE MARKER; MISMATCH REPAIR; PATHOGENESIS; PRIORITY JOURNAL; PROMOTER REGION; SINGLE NUCLEOTIDE POLYMORPHISM; TUMOR LOCALIZATION;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ADULT; AGED; AGED, 80 AND OVER; CARCINOMA; COLONIC NEOPLASMS; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; DNA METHYLATION; DNA MISMATCH REPAIR; GENE DOSAGE; HUMANS; LOSS OF HETEROZYGOSITY; MICROSATELLITE INSTABILITY; MIDDLE AGED; NUCLEAR PROTEINS; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 55949095908     PISSN: 13899600     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10689-008-9194-8     Document Type: Article

References (46)

1. R Parsons GM Li MJ Longley 1993 Hypermutability and mismatch repair deficiency in Rer+ tumor-cells Cell 75 1227 1236
2. HT Lynch T Smyrk 1996 Hereditary nonpolyposis colorectal cancer (Lynch syndrome)-an updated review Cancer 78 1149 1167
3. ST Yuen TL Chan JWC Ho 2002 Germline, somatic and epigenetic events underlying mismatch repair deficiency in colorectal and HNPCC-related cancers Oncogene 21 7585 7592
4. Y Ionov MA Peinado S Malkhosyan 1993 Ubiquitous somatic mutations in simple repeated sequences reveal a new mechanism for colonic carcinogenesis Nature 363 558 561
5. SN Thibodeau G Bren D Schaid 1993 Microsatellite instability in cancer of the proximal colon Science 260 816 819
6. M Perucho 1996 Cancer of the microsatellite mutator phenotype Biol Chem 377 675 684
7. M Kouri A Laasonen JP Mecklin 1990 Diploid predominance in hereditary nonpolyposis colorectal-carcinoma evaluated by flow-cytometry Cancer 65 1825 1829
8. M Kouri 1993 Dna ploidy of colorectal-carcinoma by tumor site, gender and history of noncolorectal malignancies Oncology 50 41 45
9. K Trautmann JP Terdiman AJ French 2006 Chromosomal instability in microsatellite-unstable and stable colon cancer Clin Cancer Res 12 6379 6385
10. E Kapiteijn GJ Liefers LC Los 2001 Mechanisms of oncogenesis in colon versus rectal cancer J Pathol 195 171 178
11. M Frattini D Balestra S Suardi 2004 Different genetic features associated with colon and rectal carcinogenesis Clin Cancer Res 10 4015 4021
12. RW Beart LJ Melton M Maruta 1983 Trends in right and left-sided colon cancer Dis Colon Rectum 26 393 398
13. CB Diep K Kleivi FR Ribeiro 2006 The order of genetic events associated with colorectal cancer progression inferred from meta-analysis of copy number changes Genes Chromosomes Cancer 45 31 41
14. K Nakao KR Mehta DH Moore 2004 High-resolution analysis of DNA copy number alterations in colorectal cancer by array-based comparative genomic hybridization Carcinogenesis 25 1345 1357
15. EH Lips JWF Dierssen R van Eijk 2005 Reliable high-throughput genotyping and loss-of-heterozygosity detection in formalin-fixed, paraffin-embedded tumors using single nucleotide polymorphism arrays Cancer Res 65 10188 10191
16. T Sugai H Takahashi W Habano 2003 Analysis of genetic alterations, classified according to their DNA ploidy pattern, in the progression of colorectal adenomas and early colorectal carcinomas J Pathol 200 168 176
17. J Young LA Simms KG Biden 2001 Features of colorectal cancers with high-level microsatellite instability occurring in familial and sporadic settings: parallel pathways of tumorigenesis Am J Pathol 159 2107 2116
18. JR Jass 2007 Classification of colorectal cancer based on correlation of clinical, morphological and molecular features Histopathology 50 113 130
19. AE de Jong M van Puijenbroek Y Hendriks 2004 Microsatellite instability, immunohistochemistry, and additional PMS2 staining in suspected hereditary nonpolyposis colorectal cancer Clin Cancer Res 10 972 980
20. YM Hendriks S Jagmohan-Changur HM van der Klift 2006 Heterozygous mutations in PMS2 cause hereditary nonpolyposis colorectal carcinoma (Lynch syndrome) Gastroenterology 130 312 322
21. AO Nygren N Ameziane HM Duarte 2005 Methylation-specific MLPA (MS-MLPA): simultaneous detection of CpG methylation and copy number changes of up to 40 sequences Nucleic Acids Res 33 e128
22. J Oosting EH Lips R van Eijk 2007 High-resolution copy number analysis of paraffin-embedded archival tissue using SNP BeadArrays Genome Res 17 368 376
23. EH Lips R van Eijk E de Graaf 2008 Progression and tumor heterogeneity analysis in early rectal cancer Clin Cancer Res 14 772 781
24. de Leeuw WJ, van PM, Merx R et al (2001) Bias in detection of instability of the (C)8 mononucleotide repeat of MSH6 in tumours from HNPCC patients. Oncogene 20:6241-6244
25. ML Larramendy W El-Rifai A Kokkola 1998 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 62 65
26. M Gaasenbeek K Howarth AJ Rowan 2006 Combined array-comparative genomic hybridization and single-nucleotide polymorphism-loss of heterozygosity analysis reveals complex changes and multiple forms of chromosomal instability in colorectal cancers Cancer Res 66 3471 3479
27. A Hemminki P Peltomaki JP Mecklin 1994 Loss of the wild-type Mlh1 gene is a feature of hereditary nonpolyposis colorectal-cancer Nat Genet 8 405 410
28. SL Lu Y Akiyama H Nagasaki 1996 Loss or somatic mutations of hMSH2 occur in hereditary nonpolyposis colorectal cancers with hMSH2 germline mutations Jpn J Cancer Res 87 279 287
29. P Tannergard T Liu A Weger 1997 Tumorigenesis in colorectal tumors from patients with hereditary non-polyposis colorectal cancer Hum Genet 101 51 55
30. SA Kuismanen MT Holmberg R Salovaara 2000 Genetic and epigenetic modification of MLH1 accounts for a major share of microsatellite-unstable colorectal cancers Am J Pathol 156 1773 1779
31. U Potocnik D Glavac R Golouh 2001 Causes of microsatellite instability in colorectal tumors: implications for hereditary non-polyposis colorectal cancer screening Cancer Genet Cytogenet 126 85 96
32. AS de Abajo M de la Hoya M van Puijenbroek 2006 Dual role of LOH at MMR loci in hereditary non-polyposis colorectal cancer? Oncogene 25 2124 2130
33. S Tuupanen A Karhu H Jarvinen 2007 No evidence for dual role of loss of heterozygosity in hereditary non-polyposis colorectal cancer Oncogene 26 2513 2517
34. M Ollikainen U Hannelius CM Lindgren 2007 Mechanisms of inactivation of MLH1 in hereditary nonpolyposis colorectal carcinoma: a novel approach Oncogene 26 4541 4549
35. M Konishi R KikuchiYanoshita K Tanaka 1996 Molecular nature of colon tumors in hereditary nonpolyposis colon cancer, familial polyposis, and sporadic colon cancer Gastroenterology 111 307 317
36. A Horii HJ Han S Sasaki 1994 Cloning, characterization and chromosomal assignment of the human genes homologous to yeast Pms1, a member of mismatch repair genes Biochem Biophys Res Commun 204 1257 1264
37. NC Nicolaides KC Carter BK Shell 1995 Genomic organization of the human Pms2 gene family Genomics 30 195 206
38. M De Vos BE Hayward S Picton 2004 Novel PMS2 pseudogenes can conceal recessive mutations causing a distinctive childhood cancer syndrome Am J Hum Genet 74 954 964
39. BE Hayward M De Vos EMA Valleley 2007 Extensive gene conversion at the PMS2 DNA mismatch repair locus Hum Mutat 28 424 430
40. LS Li NG Kim SH Kim 2003 Chromosomal imbalances in the colorectal carcinomas with microsatellite instability Am J Pathol 163 1429 1436
41. J Camps G Armengol J del Rey 2006 Genome-wide differences between microsatellite stable and unstable colorectal tumors Carcinogenesis 27 419 428
42. EJ Douglas H Fiegler A Rowan 2004 Array comparative genomic hybridization analysis of colorectal cancer cell lines and primary carcinomas Cancer Res 64 4817 4825
43. CA Haiman ML Le J Yamamato 2007 A common genetic risk factor for colorectal and prostate cancer Nat Genet 39 954 956
44. JN Poynter JC Figueiredo DV Conti 2007 Variants on 9p24 and 8q24 are associated with risk of colorectal cancer: results from the colon cancer family registry Cancer Res 67 11128 11132
45. I Tomlinson E Webb L Carvajal-Carmona 2007 A genome-wide association scan of tag SNPs identifies a susceptibility variant for colorectal cancer at 8q24.21 Nat Genet 39 984 988
46. BW Zanke CM Greenwood J Rangrej 2007 Genome-wide association scan identifies a colorectal cancer susceptibility locus on chromosome 8q24 Nat Genet 39 989 994