MLH1 and MSH2 mutations in Colombian families with hereditary nonpolyposis colorectal cancer (Lynch syndrome) - Description of four novel mutations

Familial Cancer

Volumn 4, Issue 4, 2005, Pages 285-290

  Giraldo, Alejandro ^a,b   Gómez, Andrea ^a   Salguero, Gustavo ^a   García, Herbert ^a   Aristizábal, Fabio ^a   Gutiérrez, Óscar ^a   Ángel, Luis Alberto ^a   Padrón, Jorge ^c   Martínez, Carlos ^d   Martínez, Humberto ^e   Malaver, Omar ^f   Flórez, Luis ^g   Barvo, Rosa ^h  

^a UNIVERSIDAD NACIONAL DE COLOMBIA   (Colombia)

^b Fundacion Arthur Stanley Gillow   (Colombia)

^c UNIVERSIDAD DEL ROSARIO   (Colombia)

^d HOSPITAL MILITAR CENTRAL   (Colombia)

^e Hospital de la Policia   (Colombia)

^f Instituto de Seguros Sociales Bogota   (Colombia)

^g HOSPITAL DE SAN JOSÉ   (Colombia)

^h Gastroenterology Unit   (Colombia)

Author keywords

Colombian families; Familial cancer; HNPCC; Lynch syndrome; MLH1; MSH2

Indexed keywords

PROTEIN MLH1; PROTEIN MSH2;

AMINO ACID SUBSTITUTION; ARTICLE; CANCER SCREENING; CODON; COLOMBIA; COLORECTAL CANCER; CONTROLLED STUDY; DNA SEQUENCE; EXON; FAMILIAL CANCER; GENE DELETION; GENE MUTATION; GENETIC SCREENING; GENETIC VARIABILITY; HUMAN; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM;

BASE SEQUENCE; CARRIER PROTEINS; COLOMBIA; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; DNA MUTATIONAL ANALYSIS; DNA, NEOPLASM; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GERM-LINE MUTATION; HUMANS; MALE; NEOPLASM PROTEINS; NUCLEAR PROTEINS; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL;

EID: 29144455047     PISSN: 13899600     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10689-005-4523-7     Document Type: Article

References (43)

1. J Peto 2001 Cancer epidemiology in the last century and the next decade Nature 411 390 5
2. WF Anderson A Umar OW Brawley 2003 Colorectal carcinoma in black and white race Cancer Metastasis Rev 22 67 82
3. A Jemal RC Tiwari T Murray 2004 Cancer statistics, 2004CA Cancer J Clin 54 8 29
4. LA Angel A Giraldo CE Pardo 2004 Mortalidad por cánceres del aparato digestivo en Colombia entre 1980 y 1998. Análisis de tendencias y comparación regional Rev Fac Medicina (Universidad Nacional de Colombia) 52 19 37
5. GLOBOCAN. Cancer Incidence, Mortality and Prevalence Worldwide. http://www-dep.iarc.fr/globocan/globocan.html 2000.
6. HT Lynch A de la Chapelle 1999 Genetic susceptibility to non-polyposis colorectal cancer J Med Genet 36 801 18
7. JT Wijnen HF Vasen PM Khan 1998 Clinical findings with implications for genetic testing in families with clustering of colorectal cancer N Engl J Med 339 511 8
8. LA Aaltonen R Salovaara P Kristo 1998 Incidence of hereditary nonpolyposis colorectal cancer and the feasibility of molecular screening for the disease N Engl J Med 338 1481 7
9. HFA Vasen P Watson JP Mecklin 1999 New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch Syndrome) proposed by the International Collaborative Group on HNPCC Gastroenterology 116 1453 6
10. A Umar CR Boland JP Terdiman 2004 Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability J Natl Cancer Inst 96 261 8
11. A de la Chapelle 2003 Inherited human diseases: Victories, challenges, disappointments Am J Hum Genet 72 236 40
12. SD Ramsey W Burke L Clarke 2003 An economic viewpoint on alternative strategies for identifying persons with hereditary nonpolyposis colorectal cancer Genet Med 5 353 63
13. SA Miller DD Dykes HF Polesky 1988 A simple salting out procedure for extracting DNA from human nucleated cells Nucleic Acid Res 16 1215
14. TK Weber W Conlon NJ Petrelli 1997 Genomic DNA-based hMSH2 and hMLH1 mutation screening in 32 Eastern United States hereditary nonpolyposis colorectal cancer pedigrees Cancer Res 57 3798 3803
15. NE Beck IP Tomlinson T Homfray 1997 Use of SSCP analysis to identify germline mutations in HNPCC families fulfilling the Amsterdam criteria Hum Genet 99 219 24
16. A Bateman L Coin R Durbin 2004 The Pfam protein families database Nucleic Acids Res 32 D138 41
17. R Apweiler A Bairoch CH Wu 2004 UniProt: The universal protein knowledgebase Nucleic Acids Res 32 D115 9
18. J Yuan A Amend J Borkowski 1999 MULTICLUSTAL: A systematic method for surveying Clustal W alignment parameters Bioinformatics 15 862 3
19. JD Thompson TJ Gibson F Plewniak 1997 The CLUSTAL_X windows interface: Flexible strategies for multiple sequence alignment aided by quality analysis tools Nucleic Acids Res 25 4876 82
20. BM Rossi A Lopes F Oliveira Ferreira 2002 hMLH1 and hMSH2 gene mutation in Brazilian families with suspected hereditary nonpolyposis colorectal cancer Ann Surg Oncol 9 555 61
21. C Sarroca P Peltomäki N Alfano 2003 Three new mutations in hereditary nonpolyposis colorectal cancer (Lynch syndrome II) in Uruguay Cancer Genet Cytogenet 142 13 20
22. P Tannergard JR Lipford R Kolodner 1995 Mutation screening in the hMLH1 gene in Swedish hereditary nonpolyposis colon cancer families Cancer Res 55 6092 6
23. M Nystrom-Lahti Y Wu AL Moisio 1996 DNA mismatch repair gene mutations in 55 kindreds with verified or putative hereditary nonpolyposis colorectal cancer Hum Mol Genet 5 763 9
24. A Viel M Genuardi E Capozzi 1997 Characterization of MSH2 and MLH1 mutations in Italian families with hereditary nonpolyposis colorectal cancer Genes Chromosom Cancer 18 8 18
25. HT Lynch P Watson TG Shaw 1999 Clinical impact of molecular genetic diagnosis, genetic counseling, and management of hereditary cancer, Part I: Studies of cancer in families Cancer 86 2449 56
26. T Caldes J Godino M de la Hoya 2002 Prevalence of germline mutations of MLH1 and MSH2 in hereditary nonpolyposis colorectal cancer families from Spain Int J Cancer 98 774 9
27. C Ban W Yang 1998 Crystal structure and ATPase activity of MutL: Implications for DNA repair and mutagenesis Cell 95 541 52
28. C Ban M Junop W Yang 1999 Transformation of MutL by ATP binding and hydrolysis: A switch in DNA mismatch repair Cell 97 85 97
29. C Prodromou B Panaretou S Chohan 2000 The ATPase cycle of Hsp90 drives a molecular 'clamp' via transient dimerization of the N-terminal domains EMBO J. 19 4383 92
30. L Brino A Urzhumtsev M Mousli 2000 Dimerization of Escherichia coli DNA-gyrase B provides a structural mechanism for activating the ATPase catalytic center J Biol Chem 275 9468 75
31. P Hackman P Tannergard S Osei-Mensa 1997 A human compound heterozygote for two MLH1 missense mutations Nat Genet 17 135 6
32. Q Wang C Lasset F Desseigne 1999 Neurofibromatosis and early onset of cancers in hMLH1-deficient children Cancer Res 59 294 7
33. MD Ricciardone T Ozcelik B Cevher 1999 Human MLH1 deficiency predisposes to hematological malignancy and neurofibromatosis type 1 Cancer Res 59 290 3ç
34. S Vilkki JL Tsao A Loukola 2001 Extensive somatic microsatellite mutations in normal human tissue Cancer Res 61 4541 4
35. M Nystrom-Lahti P Sistonen JP Mecklin 1994 Close linkage to chromosome 3p and conservation of ancestral founding haplotype in hereditary nonpolyposis colorectal cancer families Proc Natl Acad Sci USA 91 6054 8
36. AL Moisio P Sistonen J Weissenbach 1996 Age and origin of two common MLH1 mutations predisposing to hereditary colon cancer Am J Hum Genet 59 1243 51
37. P Hutter A Couturier V Membrez 1998 Excess of hMLH1 germline mutations in Swiss families with hereditary non-polyposis colorectal cancer Int J Cancer 78 680 4
38. A Wagner A Barrows JT Wijnen 2003 Molecular analysis of hereditary nonpolyposis colorectal cancer in the United States: high mutation detection rate among clinically selected families and characterization of an American founder genomic deletion of the MSH2 gene Am J Hum Genet 72 1088 1100
39. HT Lynch SM Coronel R Okimoto 2004 A founder mutation of the MSH2 gene and hereditary nonpolyposis colorectal cancer in the United States JAMA 291 718 24
40. HJ Han Y Yuan JL Ku 1996 Germline mutations of hMLH1 and hMSH2 genes in Korean hereditary nonpolyposis colorectal cancer J Natl Cancer Inst 88 1317 9
41. YQ Bai Y Akiyama H Nagasaki 1999 Predominant germ-line mutation of the hMSH2 gene in Japanese hereditary non-polyposis colorectal cancer kindreds Int J Cancer 82 512 5
42. Q Wang C Lasset F Desseigne 1999 Prevalence of germline mutations of hMLH1, hMSH2, hPMS1, hPMS2, and hMSH6 genes in 75 French kindreds with nonpolyposis colorectal cancer Hum Genet 105 79 85
43. CF Taylor RS Charlton J Burn 2003 Genomic deletions in MSH2 or MLH1 are a frequent cause of hereditary non-polyposis colorectal cancer: identification of novel and recurrent deletions by MLPA Hum Mut 22 428 33