Spectrum of MLH1 and MSH2 mutations in Chilean Families with suspected Lynch syndrome

Diseases of the Colon and Rectum

Volumn 53, Issue 4, 2010, Pages 450-459

  Alvarez, Karin ^a,b   Hurtado, Claudia ^a   Hevia, Montserrat A ^b   Wielandt, Ana Maria ^a   De La Fuente, Marjorie ^a,b   Church, James ^c   Carvallo, Pilar ^b   López Köstner, Francisco ^a,d  

^a CLÍNICA LAS CONDES   (Chile)

^b PONTIFICIA UNIVERSIDAD CATÓLICA DE CHILE   (Chile)

^c LERNER RESEARCH INSTITUTE   (United States)

^d UNIVERSITY OF CHILE   (Chile)

Author keywords

Chilean population; Hereditary nonpolyposis colorectal cancer; Lynch syndrome; Microsatellite instability; Mismatch repair; MLH1; MSH2

Indexed keywords

DNA; MITOCHONDRIAL DNA; PROTEIN MLH1; PROTEIN MSH2; MLH1 PROTEIN, HUMAN; MSH2 PROTEIN, HUMAN; NUCLEAR PROTEIN; SIGNAL TRANSDUCING ADAPTOR PROTEIN;

ADULT; AGED; AMERICAN INDIAN; ARTICLE; BREAST CANCER; CANCER CLASSIFICATION; CANCER REGISTRY; CARCINOGENESIS; CAUCASIAN; CHILE; COLOMBIA; COLON BIOPSY; CONTROLLED STUDY; DNA SEQUENCE; ENDOMETRIUM CANCER; ETHNIC DIFFERENCE; FAMILY STUDY; FRAMESHIFT MUTATION; GENE MUTATION; GENETIC DIFFERENCE; GENETIC SCREENING; GENETIC VARIABILITY; HAPLOTYPE; HEREDITARY NONPOLYPOSIS COLORECTAL CANCER; HISPANIC; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; MAJOR CLINICAL STUDY; MICROSATELLITE INSTABILITY; MISSENSE MUTATION; NONSENSE MUTATION; PEDIGREE ANALYSIS; PHENOTYPE; POPULATION GENETICS; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SINGLE STRAND CONFORMATION POLYMORPHISM; STOMACH CANCER; TRANSVERSE COLON; TUMOR LOCALIZATION; ADOLESCENT; ENZYME IMMUNOASSAY; FEMALE; GENETIC PREDISPOSITION; GENETICS; MALE; MIDDLE AGED; MUTATION; NUCLEOTIDE SEQUENCE; REGISTER;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ADOLESCENT; ADULT; AGED; BASE SEQUENCE; CHILE; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; GERM-LINE MUTATION; HUMANS; IMMUNOENZYME TECHNIQUES; MALE; MICROSATELLITE INSTABILITY; MIDDLE AGED; MUTS HOMOLOG 2 PROTEIN; NUCLEAR PROTEINS; PHENOTYPE; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; REGISTRIES; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION;

EID: 77951881770     PISSN: 00123706     EISSN: 15300358     Source Type: Journal    
DOI: 10.1007/DCR.0b013e3181d0c114     Document Type: Article

References (46)

1. Donoso A, Villarroel L, Pinedo G. Increase in colon cancer mortality rates in Chile, during the period 1990-2003. Rev Med Chil. 2006;134:152-158.
2. Lopez-Kostner F, Fullerton DA, Kronberg U, et al. Screening colonoscopy among first degree relatives of patients with colorectal carcinoma. Rev Med Chil. 2006;134:997-1001.
3. Lynch ht, de la Chapelle A. Genetic susceptibility to non-polyposis colorectal cancer. J Med Genet. 1999;36:801-818.
4. Peltomaki P, Vasen HF. Mutations predisposing to hereditary nonpolyposis colorectal cancer: database and results of a collaborative study. The International Collaborative Group on Hereditary Nonpolyposis Colorectal Cancer. Gastroenterology. 1997;113:1146-1158.
5. Watson P, Lynch HT. Extracolonic cancerinhereditary nonpolyposis colorectal cancer. Cancer. 1993;71:677-685.
6. Vasen HF, Watson P, Mecklin JP, Lynch HT. New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative group on HNPCC. Gastroenterology. 1999;116:1453-1456.
7. Umar A, Boland CR, Terdiman JP, et al. Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability. J Natl Cancer Inst. 2004;96:261-268. (Pubitemid 38256271)
8. Chew MH, Koh PK, Ng KH, et al. Phenotypic characteristics of hereditary non-polyposis colorectal cancer by the Amsterdam criteria: an Asian perspective. ANZ J Surg. 2008;78:556-560.
9. Oliveira Ferreira F, Napoli Ferreira CC, Rossi BM, et al. Frequency of extra-colonic tumors in hereditary nonpolyposis colorectal cancer (HNPCC) and familial colorectal cancer (FCC) Brazilian families: an analysis by a Brazilian Hereditary Colorectal Cancer Institutional Registry. Fam Cancer. 2004;3:41-47.
10. Vaccaro CA, Bonadeo F, Roverano AV, et al. Hereditary nonpolyposis colorectal cancer (Lynch Syndrome) in Argentina: report from a referral hospital register. Dis Colon Rectum. 2007;50:1604-1611.
11. Moraga ML, Rocco P, Miquel JF, et al. Mitochondrial DNA polymorphisms in Chilean aboriginal populations: implications for the peopling of the southern cone of the continent. Am J Phys Anthropol. 2000;113:19-29.
12. Boland CR, Thibodeau SN, Hamilton SR, et al. A National Cancer Institute Workshop on Microsatellite Instability for cancer detection and familial predisposition: development of international criteria for the determination of microsatellite instability in colorectal cancer. Cancer Res. 1998;58:5248-5257.
13. Hendriks YM, de Jong AE, Morreau H, et al. Diagnostic approach and management of Lynch syndrome (hereditary nonpolyposis colorectal carcinoma): a guide for clinicians. CA Cancer J Clin. 2006;56:213-225.
14. Lahiri DK, Nurnberger JI Jr. A rapid non-enzymatic method for the preparation of HMW DNA from blood for RFLP studies. Nucleic Acids Res. 1991;19:5444.
15. Kolodner RD, Hall NR, Lipford J, et al. Structure of the human MLH1 locus and analysis of a large hereditary nonpolyposis colorectal carcinoma kindred for mlh1 mutations. Cancer Res. 1995;55:242-248.
16. Kolodner RD, Hall NR, Lipford J, et al. Structure of the human MSH2 locus and analysis of two Muir-Torre kindreds for msh2 mutations. Genomics. 1994;24:516-526.
17. Rossi BM, Lopes A, Oliveira Ferreira F, et al. hMLH1 and hMSH2 gene mutation in Brazilian families with suspected hereditary nonpolyposis colorectal cancer. Ann Surg Oncol. 2002;9:555-561.
18. Casey G, Lindor NM, Papadopoulos N, et al. Conversion analysis for mutation detectioninMLH1 and MSH2 in patients with colorectal cancer. JAMA. 2005;293:799-809.
19. Olsen KR, Bojesen SE, Gerdes AM, Lindorff-Larsen K, Bernstein IT. Cost-effectiveness of surveillance programs for families at high and moderate risk of hereditary non-polyposis colorectal cancer. Int J Technol Assess Health Care. 2007;23:89-95.
20. Abdel-Rahman WM, Peltomaki P. Lynch syndrome and related familial colorectal cancers. Crit Rev Oncog. 2008;14:1-31.
21. Spaepen M, Vankeirsbilck B, Van Opstal S, et al. Germline mutations of the hMLH1 and hMSH2 mismatch repair genes in Belgian hereditary nonpolyposis colon cancer (HNPCC) patients. Fam Cancer. 2006;5:179-189.
22. Wolf B, Henglmueller S, Janschek E, et al. Spectrum ofgerm-line MLH1 and MSH2 mutations in Austrian patients with hereditary nonpolyposis colorectal cancer. Wien Klin Wochenschr. 2005;117:269-277.
23. Mecklin JP, Jarvinen HJ. Tumor spectrum in cancer family syndrome (hereditary nonpolyposis colorectal cancer). Cancer. 1991;68:1109-1112.
24. Wijnen J, de Leeuw W, Vasen H, et al. Familial endometrial cancer in female carriers of MSH6 germline mutations. Nat Genet. 1999;23:142-144.
25. Mangold E, Pagenstecher C, Friedl W, et al. Spectrum and frequencies of mutations in MSH2 and MLH1 identified in 1, 721 German families suspected of hereditary nonpolyposis colorectal cancer. Int J Cancer. 2005;116:692-702.
26. Giraldo A, Gomez A, Salguero G, et al. MLH1 and MSH2 mutations in Colombian families with hereditary nonpolyposis colorectal cancer (Lynch syndrome) -description of four novel mutations. Fam Cancer. 2005;4:285-290.
27. Becouarn Y, Rullier A, Gorry P, et al. Value of microsatellite instability typing in detecting hereditary non-polyposis colorectal cancer: a prospective multicentric study by the Association Aquitaine Gastro. Gastroenterol Clin Biol. 2005;29:667-675.
28. Cunningham JM, Kim CY, Christensen ER, et al. The frequency of hereditary defective mismatch repair in a prospective series of unselected colorectal carcinomas. Am J Hum Genet. 2001;69:780-790.
29. Ward R, Meldrum C, Williams R, et al. Impact of microsatellite testing and mismatch repair protein expression on the clinical interpretation of genetic testing in hereditary nonpolyposis colorectal cancer. J Cancer Res Clin Oncol. 2002;128:403-411.
30. Liu SR, Wang ZJ, Zhao B, Wan YL, Huang YT. Clinical features and hMSH2/hMLH1 germline mutation screening of Chinese hereditary nonpolyposis colorectal cancer patients. Zhonghua Yi Xue Za Zhi. 2004;84:714-717.
31. Sheng JQ, Chan TL, Chan YW, et al. Microsatellite instability and novel mismatch repair gene mutations in northern Chinese population with hereditary non-polyposis colorectal cancer. Chin J Dig Dis. 2006;7:197-205.
32. Froggatt NJ, Brassett C, Koch DJ, et al. Mutation screening of MSH2 and MLH1 mRNA in hereditary non-polyposis colon cancer syndrome. J Med Genet. 1996;33:726-730.
33. Jakubowska A, Gorski B, Kurzawski G, et al. Optimization of experimental conditions for RNA-based sequencing of MLH1 and MSH2 genes. Hum Mutat. 2001;17:52-60.
34. Pedroni M, Roncari B, Maffei S, et al. A mononucleotide markers panel to identify hMLH1/hMSH2 germline mutations. Dis Markers. 2007;23:179-187.
35. Wagner A, Barrows A, Wijnen JT, et al. 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. 2003;72:1088-1100.
36. Farrington SM, Lin-Goerke J, Ling J, et al. Systematic analysis of hMSH2 and hMLH1 in young colon cancer patients and controls. Am J Hum Genet. 1998;63:749-759.
37. Bisgaard ML, Jager AC, Myrhoj T, Bernstein I, Nielsen FC. Hereditary non-polyposis colorectal cancer (HNPCC): phenotypegenotype correlation between patients with and without identified mutation. Hum Mutat. 2002;20:20-27.
38. Cai Q, Sun MH, Lu HF, et al. Clinicopathological and molecular genetic analysis of 4 typical Chinese HNPCC families. World J Gastroenterol. 2001;7:805-810.
39. Raedle J, Trojan J, Brieger A, et al. Bethesda guidelines: relation to microsatellite instability and MLH1 promoter methylation in patients with colorectal cancer. Ann Intern Med. 2001;135:566-576.
40. Jenkins MA, Baglietto L, Dite GS, et al. After hMSH2 and hMLH1-what next? Analysis ofthree-generational, populationbased, early-onset colorectal cancer families. Int J Cancer. 2002;102:166-171.
41. Hendriks Y, Franken P, Dierssen JW, et al. Conventional and tissue microarray immunohistochemical expression analysis of mismatch repair in hereditary colorectal tumors. Am J Pathol. 2003;162:469-477.
42. Rajkumar T, Soumittra N, Pandey D, et al. Mutation analysis of hMSH2and hMLH1incolorectalcancer patientsin India. Genet Test. 2004;8:157-162.
43. Viel A, Genuardi M, Capozzi E, et al. Characterization of MSH2 and MLH1 mutationsinItalian families with hereditarynonpolyposis colorectal cancer. Genes Chromosomes Cancer. 1997;18:8-18.
44. de Jong AE, van Puijenbroek M, Hendriks Y, et al. Microsatellite instability, immunohistochemistry, and additional PMS2 staining in suspected hereditary nonpolyposis colorectal cancer. Clin Cancer Res. 2004;10:972-980.
45. Kurzawski G, Suchy J, Lener M, et al. Germline MSH2 and MLH1 mutational spectrum including large rearrangements in HNPCC families from Poland (update study). Clin Genet. 2006;69:40-47.
46. Sarroca C, Peltomaki P, Alfano N, et al. Three new mutations in hereditary nonpolyposis colorectal cancer (Lynch syndrome II) in Uruguay. Cancer Genet Cytogenet. 2003;142:13-20.