Characterization of germline mutations of MLH1 and MSH2 in unrelated south American suspected Lynch syndrome individuals

Familial Cancer

Volumn 10, Issue 4, 2011, Pages 641-647

  Valentin, Mev Dominguez ^a,d   Da Silva, Felipe Carneiro ^a   Santos, Erika Maria Monteiro Dos ^a   Lisboa, Bianca Garcia ^a   De Oliveira, Ligia Petrolini ^a   De Oliveira Ferreira, Fabio ^a   Gomy, Israel ^a   Nakagawa, Wilson Toshihiko ^a   Junior, Samuel Aguiar ^a   Redal, Mariana ^b   Vaccaro, Carlos ^b   Valle, Adriana Della ^c   Sarroca, Carlos ^c   Carraro, Dirce Maria ^a   Rossi, Benedito Mauro ^a  

^a A C CAMARGO CANCER CENTER   (Brazil)

^b HOSPITAL ITALIANO DE BUENOS AIRES   (Argentina)

^c Hospital De Las Fuerzas Armadas   (Uruguay)

^d LUND UNIVERSITY   (Sweden)

Author keywords

Lynch syndrome; MLH1; MMR genes; MSH2; Mutation

Indexed keywords

PROTEIN MLH1; PROTEIN MSH2;

ARTICLE; CONTROLLED STUDY; DISEASE ASSOCIATION; FRAMESHIFT MUTATION; GENETIC ASSOCIATION; GERMLINE MICRONUCLEUS; HEREDITARY NONPOLYPOSIS COLORECTAL CANCER; HUMAN; MAJOR CLINICAL STUDY; MISSENSE MUTATION; MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; RNA SPLICING; SOUTH AMERICA;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ARGENTINA; BRAZIL; CODON, NONSENSE; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; DNA MISMATCH REPAIR; DNA MUTATIONAL ANALYSIS; FRAMESHIFT MUTATION; GERM-LINE MUTATION; HUMANS; MUTATION, MISSENSE; MUTS HOMOLOG 2 PROTEIN; NUCLEAR PROTEINS; POLYMERASE CHAIN REACTION; URUGUAY;

EID: 84855685053     PISSN: 13899600     EISSN: 15737292     Source Type: Journal    
DOI: 10.1007/s10689-011-9461-y     Document Type: Article

References (41)

1. Talseth-Palmer BA, McPhillips M, Groombridge C, Spigelman A, Scott RJ (2010) MSH6 and PMS2 mutation positive Australian Lynch syndrome families: Novel mutations, cancer risk and age of diagnosis of colorectal cancer. Hered Cancer Clin Pract 8:5
2. Lynch HT, Shaw T, Lynch J, Grady W (2005) Histórico do câncer colorretal hereditário sem polipose: Síndrome de Lynch. In: Rossi B, Nakagawa W, Ferreira F, Aguiar Junior S, Lopes A (eds) Câncer de cólon, reto e ânus. Lemar/Tecmedd, pp 575-593
3. Chialina SG, Fornes C, Landi C, de la Vega Elena CD, Nicolorich MV, Dourisboure RJ, Solano A, Solis EA (2006) Microsatellite instability analysis in hereditary non-polyposis colon cancer using the Bethesda consensus panel of microsatellite markers in the absence of proband normal tissue. BMC Med Genet 7:1-5
4. Vasen HF, Mecklin JP, Khan PM, Lynch HT (1991) The international collaborative group on hereditary non-polyposis colorectal cancer (ICG-HNPCC). Dis Colon Rectum 34:424-425
5. Vasen HF, Watson P, Mecklin JP, Lynch HT (1999) New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative group on HNPCC. Gastroenterology 116:1453-1456 (Pubitemid 29258894)
6. Rodriguez-Bigas MA, Boland CR, Hamilton SR et al (1997) A national cancer institute workshop on hereditary nonpolyposis colorectal cancer syndrome: Meeting highlights and Bethesda guidelines. J Natl Cancer Inst 89:1758-1762
7. Umar A, Boland CR, Terdiman JP et al (2004) Revised Bethesda guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability. J Natl Cancer Inst 96: 261-268 (Pubitemid 38256271)
8. Yap HL, Chieng WS, Lim JR et al (2009) Recurring MLH1 deleterious mutations in unrelated Chinese Lynch syndrome families in Singapore. Fam Cancer 8:85-94
9. Da Silva FC, DominguezMV,Ferreira FOet al (2009) Mismatch repair genes in Lynch syndrome: A review. São Paulo Med J 127:46-51
10. Ou J, Niessen RC, Lützen A et al (2007) Functional analysis helps to clarify the clinical importance of unclassified variants in DNA mismatch repair genes. Hum Mutat 28:1047-1054 (Pubitemid 350036908)
11. Ou J, Niessen RC, Vonk J et al (2008) A database to support the interpretation of human mismatch repair gene variants. Hum Mutat 29:1337-1341
12. Couch FJ, Rasmussen LJ, Hofstra R et al (2008) Assessment of functional effects of unclassified genetic variants. Hum Mutat 29:1314-1326
13. 2 gene in a HNPCC family from Southern Italy. Cancer Lett 223:285-291 (Pubitemid 40719626)
14. Dominguez MV, Bastos EP, Santos EM et al (2008) Two new MLH1 germline mutations in Brazilian Lynch syndrome families. Int J Colorectal Dis 23:1263-1264
15. Greenblatt MS, Brody LC, Foulkes WD et al (2008) Locus-specific database and recommendations to strengthen their contribution to the classification of variants in cancer susceptibility genes. Hum Mutat 29:1273-1281
16. Tunca B, Pedroni M, Cecener G et al (2010) Analysis of mismatch repair gene mutations in Turkish HNPCC patients. Fam Cancer 9(3):365-376
17. 2 expression but many tumours from MLH1 mutation carriers exhibit weak positive MLH1 staining. J Pathol 207:385-395 (Pubitemid 43025686)
18. 2 and MLH1 mutations in hereditary nonpolyposis colorectal cancer families from the Basque Country, describing four new germline mutations. Fam Cancer 8:533-539
19. 2 mutations in Taiwanese Lynch syndrome families: Characterization of a founder genomic mutation in the MLH1 gene. Clin Genet 75:334-345
20. Pineda M, González S, Lázaro C et al (2010) Detection of genetic alterations in hereditary colorectal cancer screening. Mutat Res 693(1-2):19-31
21. Perera T, Wijesuriya RE, Suraweera PH et al (2008) Prevalence of colorectal cancer and survival in patients from the Gampaha District, North Colombo region. Ceylon Med J 53:17-21
22. Nyström-Lahti M, Wu Y, Moisio AL et al (1996) DNA mismatch repair gene mutations in 55 kindreds with verified or putative hereditary non-polyposis colorectal cancer. Hum Mol Genet 5: 763-769 (Pubitemid 26171291)
23. [MMR] Mismatch Repair Genes Variant Database (2009) Data base. Available from: URL:http://www.med.mun.ca/mmrvariants (12 Jul 2009)
24. 2 gene mutation in Brazilian families with suspected hereditary nonpolyposis colorectal cancer. Ann Surg Oncol 9: 555-561 (Pubitemid 34774416)
25. Sarroca C, Valle AD, Fresco R et al (2005) Frequency of hereditary non-polyposis colorectal cancer among Uruguayan patients with colorectal cancer. Clin Genet 68:80-87 (Pubitemid 40867542)
26. 2 mutations in Colombian families with hereditary nonpolyposis colorectal cancer (Lynch syndrome)- description of four novel mutations. Fam Cancer 4:285-290 (Pubitemid 41795802)
27. 2 missense mutants. Hum Mutat 29: 1355-1363
28. 2 missense mutations shows exon- and tissue-specific effects. BMC Genomics 7:243
29. Peltomäki P, Vasen HFA (1997) The international collaborative group on hereditary nonpolyposis colorectal cancer. Mutations predisposing to hereditary nonpolyposis colorectal cancer: Database and results of a collaborative study. Gastroenterology 113:1146-1158 (Pubitemid 27418968)
30. 2 is the most commonly mutated MMR gene in a cohort of Greek HNPCC patients. Br J Cancer 92:396-404 (Pubitemid 40343158)
31. Sjöblom T, Jones S, Wood LD et al (2006) The consensus coding sequences of human breast and colorectal cancers. Science 314: 268-274 (Pubitemid 44571966)
32. [INSIGHT] International Society of Hereditary Gastrointestinal Cancer (2009) Data base. Available from: URL: Http://www. insight-group.org/ (12 Jul 2009)
33. Rouleau E, Lefol C, Bourdon V et al (2009) Quantitative PCR high-resolution melting (qPCR-HRM) curve analysis, a new approach to simultaneously screen point mutations and large rearrangements: Application to MLH1 germline mutations in Lynch syndrome. Hum Mutat 30:867-875
34. 2/MLH1 gene mutations in Portuguese HNPCC families. Hum Mutat 15:116
35. 2 gene. Cancer 101:172-177 (Pubitemid 38812437)
36. Ewald J, Rodrigue CM, Mourra N et al (2007) Immunohistochemical staining for mismatch repair proteins, and its relevance in the diagnosis of hereditary non-polyposis colorectal cancer. British J surg 94:1020-1027 (Pubitemid 47236549)
37. Terdiman JP, Levin TR, Allen BA et al (2002) Hereditary nonpolyposis colorectal cancer in young colorectal cancer patients: High-risk clinic versus population-based registry. Gastroenterology 122:940-947 (Pubitemid 34267277)
38. Rodrigues FC, Kawasaki-Oyama RS, Fo JF et al (2003) Analysis of CDKN1A polymorphisms: Markers of cancer susceptibility? Cancer Genet Cytogenet 142:92-98 (Pubitemid 36434128)
39. Martinez SL, Kolodner RD (2010) Functional analysis of human mismatch repair gene mutations identifies weak alleles and polymorphisms capable of polygenic interactions. PNAS 107: 5070-5075
40. Kámory E, Tanyi M, Kolacsek O et al (2006) Two germline alterations in mismatch repair genes found in a HNPCC patient with poor family history. Pathol Oncol Res 12:228-233
41. Wimmer K, Etzler J (2008) Constitutional mismatch repairdeficiency syndrome: Have we so far seen only the tip of an iceberg? Hum Genet 124:105-122