Mutations in Fanconi anemia genes and the risk of esophageal cancer

Human Genetics

Volumn 129, Issue 5, 2011, Pages 573-582

  Akbari, Mohammad R ^a,b,c   Malekzadeh, Reza ^a   Lepage, Pierre ^d   Roquis, David ^d   Sadjadi, Ali R ^a   Aghcheli, Karim ^a   Yazdanbod, Abbas ^e   Shakeri, Ramin ^a   Bashiri, Jafar ^a   Sotoudeh, Masoud ^a   Pourshams, Akram ^a   Ghadirian, Parviz ^f   Narod, Steven A ^b  

^a TEHRAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^b UNIVERSITY OF TORONTO   (Canada)

^c UNIVERSITY OF TORONTO   (Canada)

^d MCGILL UNIVERSITY   (Canada)

^e ARDABIL UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^f CENTRE HOSPITALIER DE L UNIVERSITÉ DE MONTRÉAL   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; ARGININE; ASPARAGINE; CYSTEINE; DNA; GLUTAMIC ACID; GLUTAMINE; GLYCINE; LEUCINE; LYSINE; PHENYLALANINE; SERINE; THREONINE; VALINE;

ADULT; AGED; ARTICLE; BRCA2 GENE; CANCER RISK; CONTROLLED STUDY; DISEASE ASSOCIATION; ESOPHAGEAL SQUAMOUS CELL CARCINOMA; ESOPHAGUS CANCER; FAMILY HISTORY; FANCA GENE; FANCB GENE; FANCC GENE; FANCD1 GENE; FANCD2 GENE; FANCE GENE; FANCI GENE; FANCL GENE; FANCM GENE; FANCN GENE; FANCONI ANEMIA; FEMALE; GENE; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC SUSCEPTIBILITY; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL;

ADULT; AGED; AGED, 80 AND OVER; CARCINOMA, SQUAMOUS CELL; ESOPHAGEAL NEOPLASMS; FANCONI ANEMIA; FANCONI ANEMIA COMPLEMENTATION GROUP D2 PROTEIN; FANCONI ANEMIA COMPLEMENTATION GROUP E PROTEIN; FANCONI ANEMIA COMPLEMENTATION GROUP L PROTEIN; FEMALE; GENES, BRCA2; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INDEL MUTATION; IRAN; MALE; MIDDLE AGED; RISK;

EID: 79955567163     PISSN: 03406717     EISSN: 14321203     Source Type: Journal    
DOI: 10.1007/s00439-011-0951-7     Document Type: Article

References (56)

1. D Adachi T Oda H Yagasaki K Nakasato T Taniguchi AD D'Andrea, et al. 2002 Heterogeneous activation of the Fanconi anemia pathway by patient-derived FANCA mutants Hum Mol Genet 11 3125 3134 12444097 10.1093/hmg/11.25.3125 1:CAS:528:DC%2BD38XptlGgtr8%3D (Pubitemid 35439425)
2. MR Akbari R Malekzadeh D Nasrollahzadeh D Amanian P Sun F Islami, et al. 2006 Familial risks of esophageal cancer among the Turkmen population of the Caspian littoral of Iran Int J Cancer 119 1047 1051 16570268 10.1002/ijc.21906 1:CAS:528:DC%2BD28Xns1Cms7k%3D (Pubitemid 44116911)
3. MR Akbari R Malekzadeh D Nasrollahzadeh D Amanian F Islami S Li, et al. 2008 Germline BRCA2 mutations and the risk of esophageal squamous cell carcinoma Oncogene 27 1290 1296 17724471 10.1038/sj.onc.1210739 1:CAS:528: DC%2BD1cXit1ymsrk%3D (Pubitemid 351294689)
4. AM Ali M Kirby M Jansen FP Lach J Schulte TR Singh, et al. 2009 Identification and characterization of mutations in FANCL gene: a second case of Fanconi anemia belonging to FA-L complementation group Hum Mutat 30 E761 E770 19405097 10.1002/humu.21032
5. AF Alpi PE Pace MM Babu KJ Patel 2008 Mechanistic insight into site-restricted monoubiquitination of FANCD2 by Ube2t, FANCL, and FANCI Mol Cell 32 767 777 19111657 10.1016/j.molcel.2008.12.003 1:CAS:528: DC%2BD1MXjtFGmtQ%3D%3D
6. BP Alter 2003 Cancer in Fanconi anemia, 1927-2001 Cancer 97 425 440 12518367 10.1002/cncr.11046 (Pubitemid 36133810)
7. BP Alter H Joenje AB Oostra G Pals 2005 Fanconi anemia: adult head and neck cancer and hematopoietic mosaicism Arch Otolaryngol Head Neck Surg 131 635 639 16027289 10.1001/archotol.131.7.635 (Pubitemid 41058056)
8. E Callén MD Tischkowitz A Creus R Marcos JA Bueren JA Casado CG Mathew J Surrallés 2004 Quantitative PCR analysis reveals a high incidence of large intragenic deletions in the FANCA gene in Spanish Fanconi anemia patients Cytogenet Genome Res 104 341 345 15162062 10.1159/000077513 (Pubitemid 38721100)
9. FJ Couch MR Johnson K Rabe L Boardman R McWilliams M de Andrade G Petersen 2005 Germline Fanconi anemia complementation group C mutations and pancreatic cancer Cancer Res 65 383 386 15695377 1:CAS:528: DC%2BD2MXns1Krsg%3D%3D
10. CS Djuzenova A Rothfuss U Oppitz G Spelt D Schindler H Hoehn M Flentje 2001 Response to X-irradiation of Fanconi anemia homozygous and heterozygous cells assessed by the single-cell gel electrophoresis (comet) assay Lab Invest 81 185 192 11232640 1:CAS:528:DC%2BD3MXivV2murg%3D (Pubitemid 32176382)
11. M Futaki T Yamashita H Yagasaki T Toda M Yabe S Kato S Asano T Nakahata 2000 The IVS4 + 4 A to T mutation of the Fanconi anemia gene FANCC is not associated with a severe phenotype in Japanese patients Blood 95 1493 1498 10666230 1:CAS:528:DC%2BD3cXhtFKitbk%3D (Pubitemid 30099866)
12. SM Gordon N Alon M Buchwald 2005 FANCC, FANCE, and FANCD2 form a ternary complex essential to the integrity of the Fanconi anemia DNA damage response pathway J Biol Chem 280 36118 36125 16127171 10.1074/jbc.M507758200 1:CAS:528:DC%2BD2MXhtFCjtrzN (Pubitemid 41633883)
13. S Houghtaling C Timmers M Noll MJ Finegold SN Jones MS Meyn M Grompe 2003 Epithelial cancer in Fanconi anemia complementation group D2 (Fancd2) knockout mice Genes Dev 17 2021 2035 12893777 10.1101/gad.1103403 1:CAS:528: DC%2BD3sXms1Kntr0%3D (Pubitemid 36999328)
14. NG Howlett T Taniguchi S Olson B Cox Q Waisfisz C De Die-Smulders, et al. 2002 Biallelic inactivation of BRCA2 in Fanconi anemia Science 297 606 609 12065746 10.1126/science.1073834 1:CAS:528:DC%2BD38XlslWrs7k%3D (Pubitemid 34815345)
15. F Islami F Kamangar K Aghcheli S Fahimi S Semnani N Taghavi, et al. 2004 Epidemiologic features of upper gastrointestinal tract cancers in Northeastern Iran Br J Cancer 90 1402 1406 15054463 10.1038/sj.bjc.6601737 1:STN:280:DC%2BD2c7mtVaksw%3D%3D (Pubitemid 38586269)
16. H Joenje KJ Patel 2001 The emerging genetic and molecular basis of Fanconi anaemia Nat Rev Genet 2 446 457 11389461 10.1038/35076590 1:CAS:528:DC%2BD3MXktlKqu78%3D (Pubitemid 33673411)
17. R Kalb K Neveling H Hoehn H Schneider Y Linka SD Batish, et al. 2007 Hypomorphic mutations in the gene encoding a key Fanconi anemia protein, FANCD2, sustain a significant group of FA-D2 patients with severe phenotype Am J Hum Genet 80 895 910 17436244 10.1086/517616 1:CAS:528:DC%2BD2sXkvV2js7k%3D (Pubitemid 46668458)
18. M Levitus H Joenje JP de Winter 2006 The Fanconi anemia pathway of genomic maintenance Cell Oncol 28 3 29 16675878 1:CAS:528:DC%2BD28XjvFSmtLk%3D (Pubitemid 43673124)
19. G Li N Hu AM Goldstein ZZ Tang MJ Roth QH Wang, et al. 2001 Allelic loss on chromosome bands 13q11-q13 in esophageal squamous cell carcinoma Genes Chromosomes Cancer 31 390 397 11433530 10.1002/gcc.1158 1:CAS:528: DC%2BD3MXls1emtbc%3D (Pubitemid 32622716)
20. AB Lowenfels P Maisonneuve 2005 Risk factors for pancreatic cancer J Cell Biochem 95 649 656 15849724 10.1002/jcb.20461 1:CAS:528:DC%2BD2MXlslWqu7k%3D (Pubitemid 41420153)
21. ST Martin H Matsubayashi CD Rogers J Philips FJ Couch K Brune, et al. 2005 Increased prevalence of the BRCA2 polymorphic stop codon K3326X among individuals with familial pancreatic cancer Oncogene 24 3652 3656 15806175 10.1038/sj.onc.1208411 1:CAS:528:DC%2BD2MXktlWisLs%3D (Pubitemid 40756234)
22. S Mazoyer AM Dunning O Serova J Dearden N Puget CS Healey, et al. 1996 A polymorphic stop codon in BRCA2 Nat Genet 14 253 254 8896551 10.1038/ng1196-253 1:STN:280:DyaK2s%2FltF2itA%3D%3D
23. KA McAllister LM Bennett CD Houle T Ward J Malphurs NK Collins, et al. 2002 Cancer susceptibility of mice with a homozygous deletion in the COOH-terminal domain of the Brca2 gene Cancer Res 62 990 994 11861370 1:CAS:528:DC%2BD38XitVSmsL8%3D (Pubitemid 34160275)
24. N McCabe NC Turner CJ Lord K Kluzek A Bialkowska S Swift, et al. 2003 Deficiency in the repair of DNA damage by homologous recombination and sensitivity to poly(ADP-ribose) polymerase inhibition Cancer Res 66 8109 8115 10.1158/0008-5472.CAN-06-0140
25. AL Medhurst H Laghmani el J Steltenpool M Ferrer C Fontaine J de Groot, et al. 2006 Evidence for subcomplexes in the Fanconi anemia pathway Blood 108 2072 2080 16720839 10.1182/blood-2005-11-008151 1:CAS:528:DC%2BD28Xpsl2it74%3D (Pubitemid 44395023)
26. KD Mirchandani AD D'Andrea 2006 The Fanconi anemia/BRCA pathway: a coordinator of cross-link repair Exp Cell Res 312 2647 2653 16859679 10.1016/j.yexcr.2006.06.014 1:CAS:528:DC%2BD28XotV2gtLk%3D (Pubitemid 44162921)
27. TJ Murphy N Ravi JV Reynolds 2008 Treatment options for esophageal cancer Expert Opin Pharmacother 9 3197 3210 19040340 10.1517/14656560802560237 1:CAS:528:DC%2BD1cXhsVensr3N
28. SA Narod 2002 Modifiers of risk of hereditary breast and ovarian cancer Nat Rev Cancer 2 1372 1375 10.1038/nrc726
29. D Nasrollahzadeh F Kamangar K Aghcheli M Sotoudeh F Islami CC Abnet, et al. 2008 Opium, tobacco, and alcohol use in relation to oesophageal squamous cell carcinoma in a high-risk area of Iran Br J Cancer 98 1857 1863 18475303 10.1038/sj.bjc.6604369 1:STN:280:DC%2BD1czktFKrtA%3D%3D (Pubitemid 351748837)
30. K Neveling D Endt H Hoehn D Schindler 2009 Genotype-phenotype correlations in Fanconi anemia Mutat Res 668 73 91 19464302 10.1016/j.mrfmmm. 2009.05.006 1:CAS:528:DC%2BD1MXos12rur0%3D
31. PC Ng S Henikoff 2003 SIFT: predicting amino acid changes that affect protein function Nucleic Acids Res 31 3812 3814 12824425 10.1093/nar/gkg509 1:CAS:528:DC%2BD3sXltVWjs7s%3D (Pubitemid 37442253)
32. RK Nookala S Hussain L Pellegrini 2007 Insights into Fanconi Anaemia from the structure of human FANCE Nucleic Acids Res 35 1638 1648 17308347 10.1093/nar/gkm033 1:CAS:528:DC%2BD2sXktlSqu74%3D (Pubitemid 46592883)
33. DM Parkin F Bray J Ferlay P Pisani 2005 Global cancer statistics, 2002 CA Cancer J Clin 55 74 108 15761078 10.3322/canjclin.55.2.74 (Pubitemid 40372904)
34. T Pearson S Jansen C Havenga DK Stones G Joubert 2001 Fanconi anemia A statistical evaluation of cytogenetic results obtained from South African families Cancer Genet Cytogenet 126 52 55 11343779 10.1016/S0165-4608(00)00388-5 1:CAS:528:DC%2BD3MXjtlegsbg%3D (Pubitemid 32416526)
35. L Pellegrini DS Yu T Lo S Anand M Lee TL Blundell AR Venkitaraman 2002 Insights into DNA recombination from the structure of a RAD51-BRCA2 complex Nature 420 287 293 12442171 10.1038/nature01230 1:CAS:528:DC%2BD38XovVektLY%3D (Pubitemid 35398178)
36. A Pourshams H Khademi AF Malekshah F Islami M Nouraei AR Sadjadi, et al. 2010 Cohort Profile: the Golestan Cohort Study-a prospective study of oesophageal cancer in northern Iran Int J Epidemiol 39 52 59 19332502 10.1093/ije/dyp161
37. S Reid D Schindler H Hanenberg K Barker S Hanks R Kalb, et al. 2007 Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer Nat Genet 39 162 164 17200671 10.1038/ng1947 1:CAS:528:DC%2BD2sXpvFersA%3D%3D (Pubitemid 46184345)
38. PS Rosenberg MH Greene BP Alter 2003 Cancer incidence in persons with Fanconi anemia Blood 101 3 822 826 12393424 10.1182/blood-2002-05-1498 1:CAS:528:DC%2BD3sXptVektA%3D%3D (Pubitemid 36139345)
39. PS Rosenberg BP Alter W Ebell 2008 Cancer risks in Fanconi anemia: findings from the German Fanconi Anemia Registry Haematologica 93 511 517 18322251 10.3324/haematol.12234 (Pubitemid 351536378)
40. Rozen S, Skaletsky HJ (2000) Primer3 on the WWW for general users and for biologist programmers. In: Krawetz S, Misener S (eds) Bioinformatics methods and protocols: methods in molecular biology. NJ Humana Press, Totowa, pp 365-386
41. MF Rudd EL Webb A Matakidou GS Sellick RD Williams H Bridle, et al. 2006 Variants in the GH-IGF axis confer susceptibility to lung cancer Genome Res 16 693 701 16741161 10.1101/gr.5120106 1:CAS:528:DC%2BD28XlvVeiur0%3D (Pubitemid 43830689)
42. A Sadjadi R Malekzadeh MH Derakhshan A Sepehr M Nouraie M Sotoudeh, et al. 2003 Cancer occurrence in Ardabil: results of a population-based cancer registry from Iran Int J Cancer 107 113 118 12925965 10.1002/ijc.11359 1:CAS:528:DC%2BD3sXntlKmt7s%3D (Pubitemid 37100094)
43. F Saidi A Sepehr S Fahimi MJ Farahvash P Salehian A Esmailzadeh, et al. 2000 Oesophageal cancer among the Turkomans of northeast Iran Br J Cancer 83 1249 1254 11027442 10.1054/bjoc.2000.1414 1:STN:280:DC%2BD3M%2FktVGlsw%3D%3D
44. M Savino A Borriello M D'Apolito M Criscuolo M Del Vecchio AM Bianco, et al. 2003 Spectrum of FANCA mutations in Italian Fanconi anemia patients: identification of six novel alleles and phenotypic characterization of the S858R variant Hum Mutat 22 338 339 12955722 10.1002/humu.9180
45. S Semnani A Sadjadi S Fahimi M Nouraie M Naeimi J Kabir, et al. 2006 Declining incidence of esophageal cancer in the Turkmen Plain, eastern part of the Caspian littoral of Iran: a retrospective cancer surveillance Cancer Detect Prev 30 14 19 16495018 10.1016/j.cdp.2005.11.002 (Pubitemid 43374498)
46. J Simard M Dumont D Labuda D Sinnett C Meloche M El-Alfy, et al. 2003 Prostate cancer susceptibility genes: lessons learned and challenges posed Endocr Relat Cancer 10 225 259 12790786 10.1677/erc.0.0100225 1:CAS:528:DC%2BD3sXmsFCrsrc%3D (Pubitemid 36763535)
47. A Smogorzewska S Matsuoka P Vinciguerra ER McDonald KE Hurov J Luo, et al. 2007 Identification of the FANCI protein, a monoubiquitinated FANCD2 paralog required for DNA repair Cell 129 289 301 17412408 10.1016/j.cell.2007.03.009 1:CAS:528:DC%2BD2sXlsVWls70%3D (Pubitemid 46584733)
48. S Sunyaev V Ramensky I Koch W Lathe AS Kondrashov P Bork 2001 Prediction of deleterious human alleles Hum Mol Genet 10 591 597 11230178 10.1093/hmg/10.6.591 1:CAS:528:DC%2BD3MXit1ehtbs%3D (Pubitemid 32229363)
49. H Tamary R Bar-Yam L Shalmon G Rachavi M Krostichevsky R Elhasid, et al. 2000 Fanconi anaemia group A (FANCA) mutations in Israeli non-Ashkenazi Jewish patients Br J Haematol 111 338 343 11091222 10.1046/j.1365-2141.2000.02323.x 1:STN:280:DC%2BD3M%2FltFagsQ%3D%3D
50. T Taniguchi AD D'Andrea 2006 Molecular pathogenesis of Fanconi anemia: recent progress Blood 107 4223 4233 16493006 10.1182/blood-2005-10-4240 1:CAS:528:DC%2BD28Xlt1Cgs74%3D (Pubitemid 43801344)
51. MD Tischkowitz NV Morgan D Grimwade C Eddy S Ball I Vorechovsky, et al. 2004 Deletion and reduced expression of the Fanconi anemia FANCA gene in sporadic acute myeloid leukemia Leukemia 18 420 425 14749703 10.1038/sj.leu.2403280 1:CAS:528:DC%2BD2cXhsV2qtrw%3D (Pubitemid 38425854)
52. M Tischkowitz DF Easton J Ball SV Hodgson CG Mathew 2008 Cancer incidence in relatives of British Fanconi Anaemia patients BMC Cancer 8 257 18786261 10.1186/1471-2407-8-257
53. TA Titus DR Selvig B Qin C Wilson AM Starks BA Roe JH Postlethwait 2006 The Fanconi anemia gene network is conserved from zebrafish to human Gene 371 211 223 16515849 10.1016/j.gene.2005.11.038 1:CAS:528:DC%2BD28XjsFeitLc%3D
54. M Wijker NV Morgan S Herterich CG van Berkel AJ Tipping HJ Gross, et al. 1999 Heterogeneous spectrum of mutations in the Fanconi anaemia group A gene Eur J Hum Genet 7 52 59 10094191 10.1038/sj.ejhg.5200248 1:CAS:528: DyaK1MXislKksrk%3D (Pubitemid 29179032)
55. R Wooster G Bignell J Lancaster S Swift S Seal J Mangion, et al. 1995 Identification of the breast cancer susceptibility gene BRCA2 Nature 378 789 792 8524414 10.1038/378789a0 1:CAS:528:DyaK28XltFWi (Pubitemid 26004412)
56. H Yagasaki S Hamanoue T Oda T Nakahata S Asano T Yamashita 2004 Identification and characterization of novel mutations of the major Fanconi anemia gene FANCA in the Japanese population Hum Mutat 24 481 490 15523645 10.1002/humu.20099 1:CAS:528:DC%2BD2MXhs1Ontg%3D%3D (Pubitemid 39664602)