Breakpoint characterization of a novel large intragenic deletion of MUTYH detected in a MAP patient: Case report

BMC Medical Genetics

Volumn 12, Issue , 2011, Pages

  Torrezan, Giovana T ^a   da Silva, Felipe C C ^a   Krepischi, Ana C V ^a,b   Santos, Érika M M ^a   de O Ferreira, Fábio ^a   Rossi, Benedito M ^c   Carraro, Dirce M ^a,b  

^a A C CAMARGO CANCER CENTER   (Brazil)

^b National Institute of Science and Technology in Oncogenomics (INCITO)   (Brazil)

^c BARRETOS CANCER HOSPITAL   (Brazil)

Author keywords

[No Author keywords available]

Indexed keywords

DNA GLYCOSYLASE MUTY; DNA GLYCOSYLTRANSFERASE;

3' UNTRANSLATED REGION; ADULT; ARTICLE; BASE PAIRING; CASE REPORT; COMPARATIVE GENOMIC HYBRIDIZATION; EXON; GENE AMPLIFICATION; GENE DELETION; GENE IDENTIFICATION; GENE INSERTION; GENE LOCUS; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; GENETIC SCREENING; HOMOZYGOSITY; HUMAN; INTRON; LOSS OF FUNCTION MUTATION; MALE; POLYPOSIS; ALU SEQUENCE; COLON POLYPOSIS; FEMALE; GENETICS; HOMOZYGOTE; MIDDLE AGED; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; RECTUM TUMOR;

ADENOMATOUS POLYPOSIS COLI; ALU ELEMENTS; BASE SEQUENCE; COMPARATIVE GENOMIC HYBRIDIZATION; DNA GLYCOSYLASES; EXONS; FEMALE; HOMOZYGOTE; HUMANS; MIDDLE AGED; MOLECULAR SEQUENCE DATA; RECTAL NEOPLASMS; SEQUENCE DELETION;

EID: 80053349709     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-12-128     Document Type: Article

References (23)

1. Al-Tassan N, Chmiel NH, Maynard J, Fleming N, Livingston AL, Williams GT, Hodges AK, Davies DR, David SS, Sampson JR, Cheadle JP. Inherited variants of MYH associated with somatic G:C-- > T:A mutations in colorectal tumors. Nat Genet 2002, 30(2):227-32. 10.1038/ng828, 11818965.
2. Out AA, Tops CMJ, Nielsen T, Weiss MM, Minderhout IJHMV, Fokkema IFAC, Buisine M-P, Claes K, Colas C, Fodde R, Fostira F, Franken PF, Gaustadnes M, Heinimann K, Hodgson SV, Hogervorst FBL, Holinski-feder E, Lagerstedt-robinson K, Olschwang S, Ouweland AMWVD, Redeker EJW, Scott RJ, Vankeirsbilck B, Grønlund RV, Wijnen JT, Wikman FP, Aretz S, Sampson JR, Devilee P, Dunnen JTD, Hes FJ. Leiden Open Variation Database of the MUTYH Gene Human Mutation. Hum Mutat 2010, 31(11):1205-1215. 10.1002/humu.21343, 20725929.
3. Nghiem Y, Cabrera M, Cupples CG, Miller JH. The mutY gene: a mutator locus in Escherichia coli that generates G.C----T.A transversions. PNAS 1988, 85(8):2709-13. 10.1073/pnas.85.8.2709, 280068, 3128795.
4. Sampson JR, Jones S, Dolwani S, Cheadle JP. MutYH (MYH) and colorectal cancer. Biochem Soc Trans 2005, 33(4):679-683. 10.1042/BST0330679, 16042573.
5. Nielsen M, Morreau H, Vasen HFA, Hes FJ. MUTYH-associated polyposis (MAP). Crit Rev Oncol Hematol 2010, 1-16.
6. Sampson JR, Dolwani S, Jones S, Eccles D, Ellis A, Evans DG, Frayling I, Jordan S, Maher ER, Mak T, Maynard J, Pigatto F, Shaw J, Cheadle JP. Autosomal recessive colorectal adenomatous polyposis due to inherited mutations of MYH. Lancet 2003, 362(9377):39-41. 10.1016/S0140-6736(03)13805-6, 12853198.
7. Filipe B, Baltazar C, Albuquerque C, Fragoso S, Lage P, Vitoriano I, Mão de Ferro S, Claro I, Rodrigues P, Fidalgo P, Chaves P, Cravo M, Nobre Leitão C. APC or MUTYH mutations account for the majority of clinically well-characterized families with FAP and AFAP phenotype and patients with more than 30 adenomas. Clin Genet 2009, 76:242-255. 10.1111/j.1399-0004.2009.01241.x, 19793053.
8. Aretz S, Hes FJ. Clinical utility gene card for: MUTYH-associated polyposis (MAP), autosomal recessive colorectal adenomatous polyposis. Eur J Hum Genet 2010, 2-4.
9. Pitroski CE, Cossio SL, Koehler-Santos P, Graudenz M, Prolla JC, Ashton-prolla P. Frequency of the common germline MUTYH mutations p.G396D and p.Y179C in patients diagnosed with colorectal cancer in Southern Brazil. Int J Colorectal Dis 2011, 3:1-16.
10. Rouleau E, Zattara H, Lefol C, Noguchi T, Briaux A, Buecher B, Bourdon V, Sobol H, Lidereau R, Olschwang S. First large rearrangement in the MUTYH gene and attenuated familial adenomatous polyposis syndrome. Clin Genet 2011, 80:301-303. 10.1111/j.1399-0004.2011.01699.x, 21815886.
11. Abeysinghe SS, Chuzhanova N, Krawczak M, Ball EV, Cooper DN. Translocation and gross deletion breakpoints in human inherited disease and cancer I: Nucleotide composition and recombination-associated motifs. Hum Mutat 2003, 22(3):229-44. 10.1002/humu.10254, 12938088.
12. Korbel JO, Urban AE, Affourtit JP, Godwin B, Grubert F, Simons JF, Kim PM, Palejev D, Carriero NJ, Du L, Taillon BE, Chen Z, Tanzer A, Saunders ACE, Chi J, Yang F, Carter NP, Hurles ME, Weissman SM, Harkins TT, Gerstein MB, Egholm M, Snyder M. Paired-End Mapping Reveals Extensive Structural Variation in the Human Genome. Science 2007, 420(318):420-426.
13. Perry GH, Ben-dor A, Tsalenko A, Sampas N, Rodriguez-revenga L, Tran CW, Scheffer A, Steinfeld I, Tsang P, Yamada NA, Park HS, Kim J-I, Seo J-S, Yakhini Z, Laderman S, Bruhn L, Lee C. The Fine-Scale and Complex Architecture of Human Copy-Number Variation. Am J Hum Genet 2008, 82:685-695. 10.1016/j.ajhg.2007.12.010, 2661628, 18304495.
14. Linardopoulou EV, Williams EM, Fan Y, Friedman C, Young JM, Trask BJ. Human subtelomeres are hot spots of interchromosomal recombination and segmental duplication. Nature 2005, 437:94-100.
15. Chan CY, Kiechle M, Manivasakam P, Schiestl RH. Ionizing radiation and restriction enzymes induce microhomology-mediated illegitimate recombination in Saccharomyces cerevisiae. Nuc Ac Res 2007, 35(15):5051-9.
16. Weaver DT, DePamphilis ML. Specific Sequences in Native DNA that Arrest Synthesis by DNA Polymerase a. Biol Chem 1982, 257(4):2075-2086.
17. Lander ES, Linton LM, Birren B, Nusbaum C, Zody MC, Baldwin J, Devon K, Dewar K, Doyle M, FitzHugh W, Funke R, Gage D, Harris K, Heaford A, Howland J, Kann L, Lehoczky J, LeVine R, McEwan P, McKernan K, Meldrim J, Mesirov JP, Miranda C, Morris W, Naylor J, Raymond C, Rosetti M, Santos R, Sheridan A, Sougnez C, et al. Initial sequencing and analysis of the human genome. Nature 2001, 409(6822):860-921. 10.1038/35057062, 11237011.
18. Zelm MCV, Geertsema C, Nieuwenhuis N, Ridder DD, Conley ME, Schiff C, Tezcan I, Bernatowska E, Hartwig NG, Sanders EAM, Litzman J, Kondratenko I, Dongen JJMV, Burg MVD. Gross Deletions Involving IGHM, BTK, or Artemis: A Model for Genomic Lesions Mediated by Transposable Elements. J Hum Genet 2008, (82):320-332.
19. Franke G, Bausch B, Hoffmann MM, Cybulla M, Wilhelm C, Kohlhase J, Scherer G, Neumann HPH. Alu-Alu recombination underlies the vast majority of large VHL germline deletions: Molecular characterization and genotype-phenotype correlations in VHL patients. Hum Mutat 2009, 30(5):776-86. 10.1002/humu.20948, 19280651.
20. Kuiper RP, Vissers LELM, Venkatachalam R, Bodmer D, Hoenselaar E, Goossens M, Haufe A, Kamping E, Niessen RC, Hogervorst FBL, Gille JJP, Redeker B, Tops CMJ, van Gijn ME, van den Ouweland AMW, Rahner N, Steinke V, Kahl P, Holinski-Feder E, Morak M, Kloor M, Stemmler S, Betz B, Hutter P, Bunyan DJ, Syngal S, Culver JO, Graham T, Chan TL, Nagtegaal ID, et al. Recurrence and variability of germline EPCAM deletions in Lynch syndrome. Hum Mutat 2011, 32(4):407-14. 10.1002/humu.21446, 21309036.
21. Resta N, Giorda R, Bagnulo R, Beri S, Della Mina E, Stella A, Piglionica M, Susca FC, Guanti G, Zuffardi O, Ciccone R. Breakpoint determination of 15 large deletions in Peutz-Jeghers subjects. Hum Genet 2010, 128(4):373-82. 10.1007/s00439-010-0859-7, 20623358.
22. Batzer MA, Deininger PL. Alu repeats and human genomic diversity. Nat Rev Genet 2002, 3:370-379. 10.1038/nrg798, 11988762.
23. Chen H, Sun C, Guo W, Meng R, Du H, Qi Q, Gu X, Li L, Zhang K, Zhu D, Wang Y. AluYb8 insertion in the MUTYH gene is related to increased 8-OHdG in genomic DNA and could be a risk factor for type 2 diabetes in a Chinese population. Mol Cell Endocrinol 2011, 332:301-305. 10.1016/j.mce.2010.11.021, 21112374.