Screening of the DNA mismatch repair genes MLH1, MSH2 and MSH6 in a Greek cohort of Lynch syndrome suspected families

BMC Cancer

Volumn 10, Issue , 2010, Pages

  Thodi, Georgia ^a,b   Fostira, Florentia ^a   Sandaltzopoulos, Raphael ^b   Nasioulas, George ^c   Grivas, Anastasios ^d   Boukovinas, Ioannis ^e   Mylonaki, Maria ^f   Panopoulos, Christos ^g   Magic, Mirjana B ^h   Fountzilas, George ^i,j   Yannoukakos, Drakoulis ^a  

^a INSTITUTE OF NANOSCIENCE AND NANOTECHNOLOGY   (Greece)

^b DEMOCRITUS UNIVERSITY OF THRACE   (Greece)

^c HYGEIA HOSPITAL   (Greece)

^d METAXA CANCER HOSPITAL   (Greece)

^e THEAGENIO CANCER HOSPITAL   (Greece)

^f Saint Panteleimon General Hospital   (Greece)

^g SAINT SAVVAS HOSPITAL   (Greece)

^h INSTITUTE FOR ONCOLOGY AND RADIOLOGY OF SERBIA   (Serbia)

ⁱ ARISTOTLE UNIVERSITY OF THESSALONIKI   (Greece)

^j Hellenic Cooperative Oncology Group   (Greece)

more..

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; PROTEIN MLH1; PROTEIN MSH2; PROTEIN MSH6; DNA; DNA BINDING PROTEIN; G T MISMATCH BINDING PROTEIN; G-T MISMATCH-BINDING PROTEIN; MLH1 PROTEIN, HUMAN; MSH2 PROTEIN, HUMAN; NUCLEAR PROTEIN; SIGNAL TRANSDUCING ADAPTOR PROTEIN;

AMINO ACID SUBSTITUTION; ARTICLE; CANCER PATIENT; COHORT ANALYSIS; CONTROLLED STUDY; CYPRUS; ENDOMETRIUM CANCER; EXON; FOUNDER EFFECT; GENE; GENE DELETION; GENE MUTATION; GENETIC ASSOCIATION; GENETIC DATABASE; GENETIC SCREENING; GERM LINE; GREECE; HEREDITARY NONPOLYPOSIS COLORECTAL CANCER; HUMAN; MAJOR CLINICAL STUDY; MISMATCH REPAIR; MISSENSE MUTATION; MLH1 GENE; MSH2 GENE; MSH6 GENE; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; MUTATIONAL ANALYSIS; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; ONSET AGE; POINT MUTATION; SEQUENCE ANALYSIS; SERBIA; SPLICING DEFECT; ADULT; BASE MISPAIRING; BIOSYNTHESIS; DNA REPAIR; DNA SEQUENCE; FAMILY HEALTH; FEMALE; GENETIC PREDISPOSITION; GENETICS; MALE; MIDDLE AGED; MUTATION;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ADULT; BASE PAIR MISMATCH; COHORT STUDIES; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; DNA; DNA REPAIR; DNA-BINDING PROTEINS; FAMILY HEALTH; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GERM-LINE MUTATION; GREECE; HUMANS; MALE; MIDDLE AGED; MUTS HOMOLOG 2 PROTEIN; NUCLEAR PROTEINS; SEQUENCE ANALYSIS, DNA;

EID: 77957653900     PISSN: None     EISSN: 14712407     Source Type: Journal    
DOI: 10.1186/1471-2407-10-544     Document Type: Article

References (33)

1. de la Chapelle A. Genetic predisposition to colorectal cancer. Nat Rev Cancer 2004, 4(10):769-780. 10.1038/nrc1453, 15510158.
2. Abdel-Rahman WM, Mecklin JP, Peltomaki P. The genetics of HNPCC: application to diagnosis and screening. Crit Rev Oncol Hematol 2006, 58(3):208-220. 10.1016/j.critrevonc.2005.11.001, 16434208.
3. Vasen HF, Moslein G, Alonso A, Bernstein I, Bertario L, Blanco I, Burn J, Capella G, Engel C, Frayling I, et al. Guidelines for the clinical management of Lynch syndrome (hereditary non-polyposis cancer). J Med Genet 2007, 44(6):353-362. 10.1136/jmg.2007.048991, 2740877, 17327285.
4. Fostira F, Thodi G, Konstantopoulou I, Sandaltzopoulos R, Yannoukakos D. Hereditary cancer syndromes. J BUON 2007, 12(Suppl 1):S13-22.
5. Lynch HT, Lynch JF, Lynch PM, Attard T. Hereditary colorectal cancer syndromes: molecular genetics, genetic counseling, diagnosis and management. Fam Cancer 2008, 7(1):27-39. 10.1007/s10689-007-9165-5, 17999161.
6. Iyer RR, Pluciennik A, Burdett V, Modrich PL. DNA mismatch repair: functions and mechanisms. Chem Rev 2006, 106(2):302-323. 10.1021/cr0404794, 16464007.
7. Peltomaki P. DNA mismatch repair and cancer. Mutat Res 2001, 488(1):77-85. 10.1016/S1383-5742(00)00058-2, 11223406.
8. Vasen HF. Clinical description of the Lynch syndrome [hereditary nonpolyposis colorectal cancer (HNPCC)]. Fam Cancer 2005, 4(3):219-225. 10.1007/s10689-004-3906-5, 16136381.
9. Di Fiore F, Charbonnier F, Martin C, Frerot S, Olschwang S, Wang Q, Boisson C, Buisine MP, Nilbert M, Lindblom A, et al. Screening for genomic rearrangements of the MMR genes must be included in the routine diagnosis of HNPCC. J Med Genet 2004, 41(1):18-20. 10.1136/jmg.2003.012062, 1757274, 14729822.
10. Peltomaki P, Vasen H. Mutations associated with HNPCC predisposition -- Update of ICG-HNPCC/INSiGHT mutation database. Dis Markers 2004, 20(4-5):269-276.
11. Baert-Desurmont S, Buisine MP, Bessenay E, Frerot S, Lovecchio T, Martin C, Olschwang S, Wang Q, Frebourg T. Partial duplications of the MSH2 and MLH1 genes in hereditary nonpolyposis colorectal cancer. Eur J Hum Genet 2007, 15(3):383-386. 10.1038/sj.ejhg.5201765, 17228328.
12. Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988, 16(3):1215. 10.1093/nar/16.3.1215, 334765, 3344216.
13. Clendenning M, Baze ME, Sun S, Walsh K, Liyanarachchi S, Fix D, Schunemann V, Comeras I, Deacon M, Lynch JF, et al. Origins and prevalence of the American Founder Mutation of MSH2. Cancer Res 2008, 68(7):2145-2153. 10.1158/0008-5472.CAN-07-6599, 18381419.
14. Laud K, Kannengiesser C, Avril MF, Chompret A, Stoppa-Lyonnet D, Desjardins L, Eychene A, Demenais F, Lenoir GM, Bressac-de Paillerets B. BRAF as a melanoma susceptibility candidate gene?. Cancer Res 2003, 63(12):3061-3065.
15. Apessos A, Mihalatos M, Danielidis I, Kallimanis G, Agnantis NJ, Triantafillidis JK, Fountzilas G, Kosmidis PA, Razis E, Georgoulias VA, et al. hMSH2 is the most commonly mutated MMR gene in a cohort of Greek HNPCC patients. Br J Cancer 2005, 92(2):396-404. 2361846, 15655560.
16. Casey G, Lindor NM, Papadopoulos N, Thibodeau SN, Moskow J, Steelman S, Buzin CH, Sommer SS, Collins CE, Butz M, et al. Conversion analysis for mutation detection in MLH1 and MSH2 in patients with colorectal cancer. JAMA 2005, 293(7):799-809. 10.1001/jama.293.7.799, 2933041, 15713769.
17. Arnold S, Buchanan DD, Barker M, Jaskowski L, Walsh MD, Birney G, Woods MO, Hopper JL, Jenkins MA, Brown MA, et al. Classifying MLH1 and MSH2 variants using bioinformatic prediction, splicing assays, segregation, and tumor characteristics. Hum Mutat 2009, 30(5):757-770. 10.1002/humu.20936, 2707453, 19267393.
18. Hutter P, Couturier A, Membrez V, Joris F, Sappino AP, Chappuis PO. Excess of hMLH1 germline mutations in Swiss families with hereditary non-polyposis colorectal cancer. Int J Cancer 1998, 78(6):680-684. 10.1002/(SICI)1097-0215(19981209)78:6<680::AID-IJC3>3.0.CO;2-U, 9833759.
19. Warren JJ, Pohlhaus TJ, Changela A, Iyer RR, Modrich PL, Beese LS. Structure of the human MutSalpha DNA lesion recognition complex. Mol Cell 2007, 26(4):579-592. 10.1016/j.molcel.2007.04.018, 17531815.
20. Chao EC, Velasquez JL, Witherspoon MS, Rozek LS, Peel D, Ng P, Gruber SB, Watson P, Rennert G, Anton-Culver H, et al. Accurate classification of MLH1/MSH2 missense variants with multivariate analysis of protein polymorphisms-mismatch repair (MAPP-MMR). Hum Mutat 2008, 29(6):852-860. 10.1002/humu.20735, 18383312.
21. Desmet FO, Hamroun D, Lalande M, Collod-Beroud G, Claustres M, Beroud C. Human Splicing Finder: an online bioinformatics tool to predict splicing signals. Nucleic Acids Res 2009, 37(9):e67. 10.1093/nar/gkp215, 2685110, 19339519.
22. Charbonnier F, Olschwang S, Wang Q, Boisson C, Martin C, Buisine MP, Puisieux A, Frebourg T. MSH2 in contrast to MLH1 and MSH6 is frequently inactivated by exonic and promoter rearrangements in hereditary nonpolyposis colorectal cancer. Cancer Res 2002, 62(3):848-853.
23. Wang Y, Friedl W, Lamberti C, Jungck M, Mathiak M, Pagenstecher C, Propping P, Mangold E. Hereditary nonpolyposis colorectal cancer: frequent occurrence of large genomic deletions in MSH2 and MLH1 genes. Int J Cancer 2003, 103(5):636-641. 10.1002/ijc.10869, 12494471.
24. Wijnen J, van der Klift H, Vasen H, Khan PM, Menko F, Tops C, Meijers H, Lindhout D, Moller P, Fodde R. MSH2 genomic deletions are a frequent cause of HNPCC. Nat Genet 1998, 20(4):326-328. 10.1038/3795, 9843200.
25. Taylor CF, Charlton RS, Burn J, Sheridan E, Taylor GR. 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 Mutat 2003, 22(6):428-433. 10.1002/humu.10291, 14635101.
26. Martinez-Bouzas C, Ojembarrena E, Beristain E, Errasti J, Viguera N, Tejada MI. High proportion of large genomic rearrangements in hMSH2 in hereditary nonpolyposis colorectal cancer (HNPCC) families of the Basque Country. Cancer Lett 2007, 255(2):295-299. 10.1016/j.canlet.2007.05.004, 17582678.
27. Westenend PJ, Schutte R, Hoogmans MM, Wagner A, Dinjens WN. Breast cancer in an MSH2 gene mutation carrier. Hum Pathol 2005, 36(12):1322-1326. 10.1016/j.humpath.2005.08.025, 16311127.
28. Geary J, Sasieni P, Houlston R, Izatt L, Eeles R, Payne SJ, Fisher S, Hodgson SV. Gene-related cancer spectrum in families with hereditary non-polyposis colorectal cancer (HNPCC). Fam Cancer 2008, 7(2):163-172. 10.1007/s10689-007-9164-6, 17939062.
29. Jensen UB, Sunde L, Timshel S, Halvarsson B, Nissen A, Bernstein I, Nilbert M. Mismatch repair defective breast cancer in the hereditary nonpolyposis colorectal cancer syndrome. Breast Cancer Res Treat 2010, 120(3):777-82. 10.1007/s10549-009-0449-3, 19575290.
30. Shanley S, Fung C, Milliken J, Leary J, Barnetson R, Schnitzler M, Kirk J. Breast cancer immunohistochemistry can be useful in triage of some HNPCC families. Fam Cancer 2009, 8(3):251-255. 10.1007/s10689-008-9226-4, 19123071.
31. Watson P, Vasen HF, Mecklin JP, Bernstein I, Aarnio M, Jarvinen HJ, Myrhoj T, Sunde L, Wijnen JT, Lynch HT. The risk of extra-colonic, extra-endometrial cancer in the Lynch syndrome. Int J Cancer 2008, 123(2):444-449. 10.1002/ijc.23508, 2627772, 18398828.
32. Viel A, Petronzelli F, Della L, Lucci-Cordisco E, Fornasarig M, Pucciarelli S, Rovella V, Quaia M, Ponz de Leon M, Boiocchi M, et al. Different molecular mechanisms underlie genomic deletions in the MLH1 Gene. Hum Mutat 2002, 20(5):368-374. 10.1002/humu.10138, 12402334.
33. Davies H, Bignell GR, Cox C, Stephens P, Edkins S, Clegg S, Teague J, Woffendin H, Garnett MJ, Bottomley W, et al. Mutations of the BRAF gene in human cancer. Nature 2002, 417(6892):949-954. 10.1038/nature00766, 12068308.