MYH biallelic mutation can inactivate the two genetic pathways of colorectal cancer by APC or MLH1 transversions

Familial Cancer

Volumn 9, Issue 4, 2010, Pages 589-594

  Lefevre, Jérémie H ^a,b   Colas, Chrystelle ^a,c   Coulet, Florence ^c   Bonilla, Carolina ^b   Mourra, Najat ^a   Flejou, Jean Francois ^a   Tiret, Emmanuel ^a   Bodmer, Walter ^b   Soubrier, Florent ^c   Parc, Yann ^a  

^a HÔPITAL SAINT ANTOINE   (France)

^b UNIVERSITY OF OXFORD   (United Kingdom)

^c PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

Author keywords

Adenomatous familial polyposis; APC gene; Colorectal cancer; MLH1 gene; MYH Associated polyposis; MYH gene

Indexed keywords

APC PROTEIN; K RAS PROTEIN; PROTEIN MLH1;

ARTICLE; CASE REPORT; COLORECTAL CANCER; CONTROLLED STUDY; DNA METHYLATION; EXON; GENE; GENE DELETION; GENE FREQUENCY; GENE MUTATION; HUMAN; HUMAN TISSUE; INTRON; MICROSATELLITE INSTABILITY; MYH GENE; NUCLEIC ACID BASE SUBSTITUTION; NUCLEOTIDE SEQUENCE; PEDIGREE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN EXPRESSION; RNA REPLICATION; SOMATIC MUTATION;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ADENOMA; ADENOMATOUS POLYPOSIS COLI; ALLELES; COLORECTAL NEOPLASMS; DNA GLYCOSYLASES; DNA MUTATIONAL ANALYSIS; DNA, NEOPLASM; EXONS; FEMALE; GENES, APC; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; MALE; MICROSATELLITE INSTABILITY; MIDDLE AGED; MUTATION; NUCLEAR PROTEINS; PEDIGREE; PHENOTYPE; POLYMERASE CHAIN REACTION;

EID: 78650186816     PISSN: 13899600     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10689-010-9367-0     Document Type: Article

References (21)

1. JM Cunningham ER Christensen DJ Tester CY Kim PC Roche LJ Burgart, et al. 1998 Hypermethylation of the hMLH1 promoter in colon cancer with microsatellite instability Cancer Res 58 3455 3460 1:CAS:528:DyaK1cXltFyis7Y%3D 9699680 (Pubitemid 28371090)
2. Parc Y, Gueroult S, Mourra N, Serfaty L, Flejou JF, Tiret E et al (2004) Prognostic significance of microsatellite instability determined by immunohistochemical staining of MSH2 and MLH1 in sporadic T3N0M0 colon cancer. Gut 53:371-375 (Pubitemid 38241332)
3. N Al-Tassan NH Chmiel J Maynard, et al. 2002 Inherited variants of MYH associated with somatic G:C → T:A mutations in colorectal tumors Nat Genet 30 2 227 232 1:CAS:528:DC%2BD38XhtFWltb8%3D 10.1038/ng828 11818965
4. JG Stone D Robertson RS Houlston 2001 Immunohistochemistry for MSH2, MHL1: a method for identifying mismatch repair deficient colorectal cancer J Clin Pathol 54 6 484 487 1:STN:280:DC%2BD3M3ps1OltQ%3D%3D 10.1136/jcp.54.6.484 11376026 (Pubitemid 32531102)
5. A Colebatch M Hitchins R Williams A Meagher NJ Hawkins RL Ward 2006 The role of MYH and microsatellite instability in the development of sporadic colorectal cancer Br J Cancer 95 9 1239 1243 1:CAS:528:DC%2BD28XhtFChs7vK 10.1038/sj.bjc.6603421 17031395 (Pubitemid 44658489)
6. MF Kane M Loda GM Gaida, et al. 1997 Methylation of the hMLH1 promoter correlates with lack of expression of hMLH1 in sporadic colon tumors and mismatch repair-defective human tumor cell lines Cancer Res 57 5 808 811 1:CAS:528:DyaK2sXhs1Kjtbs%3D 9041175 (Pubitemid 27097998)
7. JG Herman A Umar K Polyak, et al. 1998 Incidence and functional consequences of hMLH1 promoter hypermethylation in colorectal carcinoma Proc Natl Acad Sci USA 95 12 6870 6875 1:CAS:528:DyaK1cXjslynu7s%3D 10.1073/pnas.95.12.6870 9618505 (Pubitemid 28278073)
8. G Deng I Bell S Crawley, et al. 2004 BRAF mutation is frequently present in sporadic colorectal cancer with methylated hMLH1, but not in hereditary nonpolyposis colorectal cancer Clin Cancer Res 10 1 Pt 1 191 195 1:CAS:528:DC%2BD2cXkvF2msA%3D%3D 10.1158/1078-0432.CCR-1118-3 14734469 (Pubitemid 38114179)
9. E Domingo P Laiho M Ollikainen, et al. 2004 BRAF screening as a low-cost effective strategy for simplifying HNPCC genetic testing J Med Genet 41 9 664 668 1:CAS:528:DC%2BD2cXovFWhsLY%3D 10.1136/jmg.2004.020651 15342696 (Pubitemid 39208606)
10. M Grabowski Y Mueller-Koch E Grasbon-Frodl, et al. 2005 Deletions account for 17% of pathogenic germline alterations in MLH1, MSH2 in hereditary nonpolyposis colorectal cancer (HNPCC) families Genet Test 9 2 138 146 1:CAS:528:DC%2BD2MXkvVGhtr0%3D 10.1089/gte.2005.9.138 15943554 (Pubitemid 40875014)
11. G Slupphaug B Kavli HE Krokan 2003 The interacting pathways for prevention and repair of oxidative DNA damage Mutat Res 531 1-2 231 251 1:CAS:528:DC%2BD3sXpt1ertLw%3D 14637258 (Pubitemid 37456735)
12. JH Lefevre CM Rodrigue N Mourra, et al. 2006 Implication of MYH in colorectal polyposis Ann Surg 244 6 874 880 10.1097/01.sla.0000246937.54435.50 17122612
13. L Lipton SE Halford V Johnson, et al. 2003 Carcinogenesis in MYH-associated polyposis follows a distinct genetic pathway Cancer Res 63 22 7595 7599 1:CAS:528:DC%2BD3sXptFOls70%3D 14633673 (Pubitemid 37466679)
14. B Wolf S Gruber S Henglmueller, et al. 2006 Efficiency of the revised Bethesda guidelines (2003) for the detection of mutations in mismatch repair genes in Austrian HNPCC patients Int J Cancer 118 6 1465 1470 1:CAS:528:DC%2BD28XhslCqs7g%3D 10.1002/ijc.21524 16206289
15. C Pagenstecher M Wehner W Friedl, et al. 2006 Aberrant splicing in MLH1 and MSH2 due to exonic and intronic variants Hum Genet 119 1-2 9 22 1:CAS:528:DC%2BD28XhvVaqtrw%3D 10.1007/s00439-005-0107-8 16341550
16. A Hemminki P Peltomaki JP Mecklin, et al. 1994 Loss of the wild type MLH1 gene is a feature of hereditary nonpolyposis colorectal cancer Nat Genet 8 4 405 410 1:CAS:528:DyaK2MXitl2hsbo%3D 10.1038/ng1294-405 7894494
17. S Tuupanen A Karhu H Jarvinen JP Mecklin V Launonen LA Aaltonen 2007 No evidence for dual role of loss of heterozygosity in hereditary non-polyposis colorectal cancer Oncogene 26 17 2513 2517 1:CAS:528:DC%2BD2sXktVChtrg%3D 10.1038/sj.onc.1210038 17043646 (Pubitemid 46597268)
18. J Zhang A Lindroos S Ollila, et al. 2006 Gene conversion is a frequent mechanism of inactivation of the wild-type allele in cancers from MLH1/MSH2 deletion carriers Cancer Res 66 2 659 664 1:CAS:528:DC%2BD28XlsFOltg%3D%3D 10.1158/0008-5472.CAN-05-4043 16423994 (Pubitemid 43165927)
19. S Borrego FA Wright RM Fernandez, et al. 2003 A founding locus within the RET proto-oncogene may account for a large proportion of apparently sporadic Hirschsprung disease and a subset of cases of sporadic medullary thyroid carcinoma Am J Hum Genet 72 1 88 100 1:CAS:528:DC%2BD3sXis1ygsA%3D%3D 10.1086/345466 12474140 (Pubitemid 36056845)
20. Y Gu A Parker TM Wilson H Bai DY Chang AL Lu 2002 Human MutY homolog, a DNA glycosylase involved in base excision repair, physically and functionally interacts with mismatch repair proteins human MutS homolog 2/human MutS homolog 6 J Biol Chem 277 13 11135 11142 1:CAS:528:DC%2BD38Xis1Khu7Y%3D 10.1074/jbc.M108618200 11801590 (Pubitemid 34952874)
21. C Colussi E Parlanti P Degan, et al. 2002 The mammalian mismatch repair pathway removes DNA 8-oxodGMP incorporated from the oxidized dNTP pool Curr Biol 12 11 912 918 1:CAS:528:DC%2BD38XksFOjtLc%3D 10.1016/S0960-9822(02)00863-1 12062055 (Pubitemid 34689226)