Fanconi anaemia genes and susceptibility to cancer

Oncogene

Volumn 25, Issue 43, 2006, Pages 5875-5884

  Mathew, C G ^a  

^a GUY S HOSPITAL   (United Kingdom)

Author keywords

Chromosomal instability; Fanconi anaemia; Leukaemia; Squamous cell carcinoma

Indexed keywords

BRCA2 PROTEIN; CISPLATIN; DOUBLE STRANDED DNA; HELICASE; ISOENZYME; PROTEIN BRIP1; UNCLASSIFIED DRUG;

ACUTE GRANULOCYTIC LEUKEMIA; AUTOSOMAL RECESSIVE DISORDER; BREAST CANCER; CANCER CHEMOTHERAPY; CANCER GENETICS; CANCER RISK; CANCER SUSCEPTIBILITY; CARCINOGENESIS; DNA CROSS LINKING; DNA DAMAGE; DNA REPAIR; DRUG TARGETING; ENZYME POLYMORPHISM; EPIGENETICS; FANCONI ANEMIA; GENE IDENTIFICATION; GENE INACTIVATION; GENE MUTATION; GENE SILENCING; GENETIC SUSCEPTIBILITY; HETEROZYGOTE; HUMAN; LEUKEMOGENESIS; MALIGNANT TRANSFORMATION; MOLECULAR RECOGNITION; NONHUMAN; PANCREAS CANCER; PRIORITY JOURNAL; REVIEW; SIGNAL TRANSDUCTION; SQUAMOUS CELL CARCINOMA;

BREAST NEOPLASMS; DNA-BINDING PROTEINS; FANCONI ANEMIA; FEMALE; GENES, BRCA2; GENETIC PREDISPOSITION TO DISEASE; HETEROZYGOTE DETECTION; HOMOZYGOTE; HUMANS; LEUKEMIA; MUTATION; NEOPLASMS; PANCREATIC NEOPLASMS; RNA HELICASES;

EID: 33749023325     PISSN: 09509232     EISSN: 14765594     Source Type: Journal    
DOI: 10.1038/sj.onc.1209878     Document Type: Review

References (92)

1. Adachi D, Oda T, Yagasaki H, Nakasato K, Taniguchi T, D'Andrea AD et al. (2002). Heterogeneous activation of the Fanconi anemia pathway by patient-derived FANCA mutants. Hum Mol Genet 11: 3125-3134.
2. Alter BP, Joenje H, Oostra AB, Pals G. (2005). Fanconi anemia: adult head and neck cancer and hematopoietic mosaicism. Arch Otolaryngol Head Neck Surg 131: 635-639.
3. Alter BP. (2003). Cancer in Fanconi anemia. Cancer 97: 425-440.
4. Barber LM, McGrath HEN, Meyer S, Will AM, Birch JM, Eden OB et al. (2003). Constitutional sequence variation in the Fanconi anaemia group C (FANCC) gene in childhood acute myeloid leukaemia. Br J Haematol 121: 57-62.
5. Barroso E, Milne RL, Fernandez LP, Zamora P, Arias JI, Benitez J et al. (2006). FANCD2 associated with sporadic breast cancer risk. Carcinogenesis May 5; (E-pub ahead of print).
6. Bridge WL, Vandenberg CJ, Franklin RJ, Hiom K. (2005). The BRIP1 helicase functions independently of BRCA1 in the Fanconi anemia pathway for DNA crosslink repair. Nat Genet 37: 953-957.
7. Bryant HE, Schultz N, Thomas HD, Parker KM, Flower D, Lopez E et al. (2005). Specific killing of BRCA2-deficient tumours with inhibitors of poly(ADP-ribose) polymerase. Nature 434: 913-917.
8. Callen E, Casado JA, Tischkowitz MD, Bueren JA, Creus A, Marcos R et al. (2005). A common founder mutation in FANCA underlies the world's highest prevalence of Fanconi anemia in Gypsy families from Spain. Blood 105: 1946-1949.
9. Cantor S, Drapkin R, Zhang F, Lin Y, Han J, Pamidi S et al. (2004). The BRCA1-associated protein BACH1 is a DNA helicase targeted by clinically relevant inactivating mutations. Proc Natl Acad Sci USA 101: 2357-2362.
10. Cantor SB, Bell DW, Ganesan S, Kass EM, Drapkin R, Grossman S et al. (2001). BACH1, a novel helicase-like protein, interacts directly with BRCA1 and contributes to its DNA repair function. Cell 105: 149-160.
11. Carreau M. (2004). Not-so-novel phenotypes in the Fanconi anemia group D2 mouse model. Blood 103: 2430.
12. Chen Q, van der Sluis PC, Boulware D, Hazlehurst LA, Dalton WS. (2005). The FA/BRCA pathway is involved in melphalan-induced DNA interstrand cross-link repair and accounts for melphalan resistance in multiple myeloma cells. Blood 106: 698-705.
13. Chirnomas D, Taniguchi T, de la Vega M, Vaidya AP, Vasserman M, Hartman AR et al. (2006). Chemosensitization to cisplatin by inhibitors of the Fanconi anemia/BRCA pathway. Mol Cancer Ther 5: 952-961.
14. Condie A, Powles RL, Hudson CD, Shepherd V, Bevan S, Yuille MR et al. (2002). Analysis of the Fanconi anaemia complementation group A gene in acute myeloid leukaemia. Leuk Lymphoma 43: 1849-1853.
15. Connor F, Bertwistle D, Mee PJ, Ross GM, Swift S, Grigorieva E et al. (1997). Tumorigenesis and a DNA repair defect in mice with a truncating Brca2 mutation. Nat Genet 17: 423-430.
16. Couch FJ, Johnson MR, Rabe K, Boardman L, McWilliams R, de Andrade M et al. (2005). Germ line Fanconi anemia complementation group C mutations and pancreatic cancer. Cancer Res 65: 383-386.
17. Cumming RC, Lightfoot J, Beard K, Youssoufian H, O'Brien PJ, Buchwald M. (2001). Fanconi anemia group C protein prevents apoptosis in hematopoietic cells through redox regulation of GSTP1. Nat Med 7: 814-820.
18. Djuzenova CS, Rothfuss A, Oppitz U, Spelt G, Schindler D, Hoehn H et al. (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.
19. Fagerlie S, Lensch MW, Pang Q, Bagby Jr GC. (2001). The Fanconi anemia group C gene product: signaling functions in hematopoietic cells. Exp Hematol 29: 1371-1381.
20. Faivre L, Guardiola P, Lewis C, Dokal I, Ebell W, Zatterale A et al. (2000). Association of complementation group and mutation type with clinical outcome in Fanconi anemia. Blood 96: 4064-4070.
21. Fanconi G. (1967). Familial constitutional panmyelocytopathy, Fanconi's anemia (F.A.). I. Clinical aspects. Semin Hematol 4: 233-240.
22. Farmer H, McCabe N, Lord CJ, Tutt AN, Johnson DA, Richardson TB et al. (2005). Targeting the DNA repair defect in BRCA mutant cells as a therapeutic strategy. Nature 434: 917-921.
23. Ferrer M, de Winter JP, Masterbroek DC, Curiel DT, Gerritsen WR, Giaccone G et al. (2004). Chemosensitizing tumor cells by targeting the Fanconi anemia pathway with an adenovirus overexpressing dominant-negative FANCA. Cancer Gene Ther 11: 539-546.
24. Friedman LS, Thistlethwaite FC, Patel KJ, Yu VP, Lee H, Venkitaraman AR et al. (1998). Thymic lymphomas in mice with a truncating mutation in Brca2. Cancer Res 58: 1338-1343.
25. Futaki M, Yamashita T, Yagasaki H, Toda T, Yabe M, Kato S et al. (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.
26. Garcia-Closas M, Egan KM, Newcomb PA, Brinton LA, Titus-Ernstoff L, Chanock S et al. (2006). Polymorphisms in DNA double-strand break repair genes and risk of breast cancer: two population-based studies in USA and Poland, and meta-analyses. Hum Genet 119: 376-388.
27. Gillio AP, Verlander PC, Batish SD, Giampietro PF, Auerbach AD. (1997). Phenotypic consequences of mutations in the Fanconi anemia FAC gene: an International Fanconi Anemia Registry study. Blood 90: 105-110.
28. Hirsch B, Shimamura A, Moreau L, Baldinger S, Hag-alshiekh M, Bostrom B et al. (2004). Association of biallelic BRCA2/FANCD1 mutations with spontaneous chromosomal instability and solid tumors of childhood. Blood 103: 2554-2559.
29. Hodgson SV, Easton DF, Ball J, Mathew CG, Tischkowitz MD. (2004). A study of cancer incidence in British Fanconi anemia families (Abstract 406, American Society of Human Genetics Meeting, Toronto, Canada, 26-30.10.2004).
30. Houghtaling S, Timmers C, Noll M, Finegold MJ, Jones SN, Meyn MS et al. (2003). Epithelial cancer in Fanconi anemia complementation group D2 (Fancd2) knockout mice. Genes Dev 17: 1933-1936.
31. Howlett NG, Taniguchi T, Olson S, Cox B, Waisfisz Q, de Die-Smulders C et al. (2002). Biallelic inactivation of BRCA2 in Fanconi anemia. Science 297: 606-609.
32. Hussain S, Wilson JB, Blom E, Thompson LH, Sung P, Gordon SM et al. (2006). Tetratricopeptide-motif-mediated interaction of FANCG with recombination proteins XRCC3 and BRCA2. DNA Repair 5: 629-640.
33. Joenje H, Patel KJ. (2001). The emerging genetic and molecular basis of Fanconi anaemia. Nat Rev Genet 2: 446-457.
34. Karppinen SM, Vuosku J, Heikkinen K, Allinen M, Winqvist R. (2003). No evidence of involvement of germline BACH1 mutations in Finnish breast and ovarian cancer families. Eur J Cancer 39: 366-371.
35. Kutler DI, Auerbach AD, Satagopan J, Giampietro PF, Batish SD, Huvos AG et al. (2003a). High incidence of head and neck squamous cell carcinoma in patients with Fanconi anemia. Arch Otolaryngol Head Neck Surg 129: 106-112.
36. Kutler DI, Singh B, Satagopan J, Batish SD, Berwick M, Giampietro PF et al. (2003b). A 20-year perspective on the International Fanconi Anemia Registry (IFAR). Blood 101: 1249-1256.
37. Kutler DI, Wreesman VB, Goderdhan A, Ben-Porat L, Satagopan J, Ngai I et al. (2003c). Human papillomavirus DNA and p53 polymorphisms in squamous cell carcinomas from Fanconi anemia patients. J Natl Cancer Inst 95: 1718-1721.
38. Lensch MW, Tischkowitz M, Christianson TA, Reifsteck CA, Speckhart SA, Jakobs PM et al. (2003). Acquired FANCA dysfunction and cytogenetic instability in adult acute myelogenous leukemia. Blood 102: 7-16.
39. Levitus M, Rooimans MA, Steltenpool J, Cool NFC, Oostra AB, Mathew CG et al. (2004). Heterogeneity in Fanconi anemia: evidence for 2 new genetic subtypes. Blood 103: 2498-2503.
40. Levitus M, Waisfisz Q, Godthelp BC, de Vries Y, Hussain S, Wiegant WW et al. (2005). The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J. Nat Genet 37: 934-935.
41. Levran O, Attwooll C, Henry RT, Milton KL, Neveling K, Rio P et al. (2005). The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia. Nat Genet 37: 931-933.
42. Lewis AG, Flanagan J, Marsh A, Pupo GM, Mann G, Spurdle AB et al. (2005). Mutation analysis of FANCD2, BRIP1/BACH1, LMO4 and SFN in familial breast cancer. Breast Cancer Res 7: R1005-R1016.
43. Ludwig T, Chapman DL, Papaioannou VE, Efstratiadis A. (1997). Targeted mutations of breast cancer susceptibility gene homologs in mice: lethal phenotypes of Brca1, Brca2, Brca1/Brca2, Brca1/p53, and Brca2/p53 nullizygous embryos. Genes Dev 11: 1226-1241.
44. Luo L, Lei H, Du Q, von Wachenfeldt A, Kockum I, Luthman H et al. (2002). No mutations in the BACH1 gene in BRCA1 and BRCA2 negative breast-cancer families linked to 17q22. Int J Cancer 98: 638-639.
45. Lyakhovich A, Surralles J. (2005). Disruption of the Fanconi anemia/BRCA pathway in sporadic cancer. Cancer Lett 232: 99-106.
46. Marsit CJ, Liu M, Nelson HH, Posner M, Suzuki M, Kelsey KT. (2004). Inactivation of the Fanconi anemia/BRCA pathway in lung and oral cancers: implications for treatment and survival. Oncogene 23: 1000-1004.
47. Meetei AR, de Winter JP, Medhurst AL, Wallisch M, Waisfisz Q, van de Vrugt HJ et al. (2003). A novel ubiquitin ligase is deficient in Fanconi anemia. Nat Genet 35: 165-170.
48. Meetei AR, Levitus M, Xue Y, Medhurst AL, Zwaan M, Ling C et al. (2004). X-linked inheritance of Fanconi anemia complementation group B. Nat Genet 36: 1142-1143.
49. Meetei AR, Medhurst AL, Ling C, Xue Y, Singh TR, Bier P et al. (2005). A human ortholog of archaeal DNA repair protein Hef is defective in Fanconi anemia complementation group M. Nat Genet 37: 958-963.
50. Meyer S, Barber LM, White DJ, Will AM, Birch JM, Kohler JA et al. (2006). Spectrum and significance of variants and mutations in the Fanconi anaemia group G gene in children with sporadic acute myeloid leukaemia. Br J Haematol 133: 284-292.
51. Morgan NV, Essop F, Demuth I, de Ravel T, Jansen S, Tischkowitz M et al. (2006). A common Fanconi anemia mutation in black populations of sub-Saharan Africa. Blood 105: 3542-3544.
52. Mosedale G, Niedzwiedz W, Alpi A, Perrina F, Pereira-Leal JB, Johnson M et al. (2005). The vertebrate Hef ortholog is a component of the Fanconi anemia tumor-suppressor pathway. Nat Struct Mol Biol 12: 763-771.
53. Narayan G, Arias-Pulido H, Nandula SV, Basso K, Sugirtharaj DD, Vargas H et al. (2004). Promoter hypermethylation of FANCF: disruption of Fanconi anemia-BRCA pathway in cervical cancer. Cancer Res 64: 2994-2997.
54. Offit K, Levran O, Mullaney B, Mah K, Nafa K, Batish SD et al. (2003). Shared genetic susceptibility to breast cancer, brain tumors, and Fanconi anaemia. J Natl Cancer Inst 95: 1548-1551.
55. Pearson T, Jansen S, Havenga C, Stones DK, Joubert G. (2001). Fanconi anemia: a statistical evaluation of cytogenetic results obtained from South African families. Cancer Genet Cytogenet 126: 52-55.
56. Potter NU, Sarmousakis C, Li FP. (1983). Cancer in relatives of patients with aplastic anemia. Cancer Genet Cytogenet 9: 61-65.
57. Reid S, Renwick A, Seal S, Baskcomb L, Barfoot R, Jayatilake H et al. (2005). Biallelic BRCA2 mutations are associated with multiple malignancies in childhood including familial Wilms tumour. J Med Genet 42: 147-151.
58. Reuter TY, Medhurst AL, Waisfisz Q, Zhi Y, Herterich S, Hoehn H et al. (2003). Yeast two hybrid screens imply involvement of Fanconi anaemia proteins in transcription regulation, cell signalling, oxidative metabolism and cellular transport. Exp Cell Res 289: 211-221.
59. Rogers CD, Couch FJ, Brune K, Martin ST, Philips J, Murphy KM et al. (2004A). Genetics of the FANCA gene in familial pancreatic cancer. J Med Genet 41: er126.
60. Rogers CD, van der Heijden MS, Brune K, Yeo CJ, Hruban RH, Kern SE et al. (2004B). The genetics of FANCC and FANCG in familial pancreatic cancer. Cancer Biol Ther 3: 167-169.
61. Rosenberg PS, Greene MH, Alter BP. (2003). Cancer incidence in persons with Fanconi anemia. Blood 101: 822-826.
62. Rosenberg PS, Socié G, Alter BP, Gluckman E. (2005). Risk of head and neck squamous cell cancer and death in patients with Fanconi anemia who did and did not receive transplants. Blood 105: 67-73.
63. Rosendorff J, Bernstein R, Macdougall L, Jenkins T. (1987). Fanconi anemia: another disease of unusually high prevalence in the Afrikaans population of South Africa. Am J Med Genet 27: 793-797.
64. Rutter JL, Smith AM, Dávila MR, Sigurdson AJ, Giusti RM, Pineda MA et al. (2003). Mutational analysis of the BRCA1-interacting genes ZNF350/ZBR1 and BRIP1/BACH1 among BRCA1 and BRCA2-negative probands from breast-ovarian cancer families and among early-onset breast cancer cases and reference individuals. Hum Mutat 22: 121-128.
65. Schroeder TM, Anschutz F, Knopp A. (1964). Spontaneous chromosome aberrations in familial panmyelopathy. Humangenetik 1: 194-196.
66. Seal S, Barfoot R, Jayatilake H, Smith P, Renwick A, Bascombe L et al. (2003). Evaluation of Fanconi anemia genes in familial breast cancer predisposition. Cancer Res 63: 8596-8599.
67. Sharan SK, Morimatsu M, Albrecht U, Lim DS, Regel E, Dinh C et al. (1997). Embryonic lethality and radiation hypersensitivity mediated by Rad51 in mice lacking Brca2. Nature 386: 804-810.
68. Sigurdson AJ, Hauptmann M, Chatterjee N, Alexander BH, Doody MM, Rutter JL et al. (2004). Kin-cohort estimates for familial breast cancer risk in relation to variants in DNA base excision repair, BRCA1 interacting and growth factor genes. BMC Cancer 4: 9.
69. Surralles J, Jackson SP, Jasin M, Kastan MB, West SC, Joenje H. (2004). Molecular cross-talk among chromosome fragility syndromes. Genes Dev 18: 1359-1370.
70. Swift M. (1971). Fanconi's anaemia in the genetics of neoplasia. Nature 230: 370-373.
71. Swift M, Caldwell RJ, Chase C. (1980). Reassessment of cancer predisposition of Fanconi anemia heterozygotes. J Natl Cancer Inst 65: 863-867.
72. Taniguchi T, D'Andrea AD. (2006). The molecular pathogenesis of Fanconi Anemia: recent progress. Blood 107: 4223-4233.
73. Taniguchi T, Tischkowitz M, Ameziane N, Hodgson SV, Mathew CG, Joenje J et al. (2003). Disruption of the Fanconi anemia-BRCA pathway in cisplatin-sensitive ovarian tumors. Nature Med 9: 568-574.
74. Thompson D, Easton DF. (2004). The BRCA1 and BRCA2 genes. In: Eeles RA, Easton DF, Ponder BAJ, Eng C (ed). Genetic Predisposition to Cancer, 2nd ed. Arnold: London, pp. 256-276.
75. Thompson LH, Hinz JM, Yamada NA, Jones NJ. (2005). How Fanconi anemia proteins promote the four Rs: replication, recombination, repair and recovery. Environ Mol Mutagen 45: 128-142.
76. Tipping AJ, Pearson T, Morgan NV, Gibson RA, Kuyt LP, Havenga C et al. (2001). Molecular and genealogical evidence for a founder mutation in Fanconi anemia families of the Afrikaner population of South Africa. Proc Natl Acad Sci USA 98: 5734-5739.
77. Tischkowitz M, Ameziane N, Qaisfisz Q, de Winter JP, Harris R, Taniguchi T et al. (2003). Bi-allelic silencing of the Fanconi anaemia gene FANCF in acute myeloid leukaemia. Br J Haematol 123: 469-471.
78. Tischkowitz M, Dokal I. (2004). Fanconi anaemia and leukaemia - clinical and molecular aspects. Br J Haematol 126: 176-191.
79. Tischkowitz MD, Morgan NV, Grimwade D, Eddy C, Ball S, Vorechovsky I et al. (2004). Deletion and reduced expression of the Fanconi anemia FANCA gene in sporadic acute myeloid leukaemia. Leukemia 18: 420-425.
80. Vahteristo P, Yliannala K, Tamminen A, Eerola H, Blomqvist C, Nevanlinna H. (2006). BACH1 Ser919Pro variant and breast cancer risk. BMC Cancer 6: 19.
81. van der Heijden MS, Brody JR, Gallmeier E, Cunningham SC, Dezentje DA, Shen D et al. (2004). Functional defects in the Fanconi anemia pathway in pancreatic cancer cells. Am J Pathol 165: 651-657.
82. van der Heijden MS, Yeo CJ, Hruban RH, Kern SE. (2003). Fanconi anemia gene mutations in young-onset pancreatic cancer. Cancer Res 63: 2585-2588.
83. van Zeeburg HJT, Snijders PJF, Joenje H, Brakenhoff RH. (2004). Re: Human papillomavirus DNA and p53 polymorphisms in squamous cell carcinomas from Fanconi anemia patients. J Natl Cancer Inst 96: 968-969.
84. Verlander PC, Kaporis A, Liu Q, Zhang Q, Seligsohn U, Auerbach AD. (1995). Carrier frequency of the IVS4+4 A → T mutation of the Fanconi anemia gene FAC in the Ashkenazi Jewish population. Blood 86: 4034-4038.
85. Verlander PC, Lin JD, Udono MU, Zhang Q, Gibson RA, Mathew CG et al. (1994). Mutation analysis of the Fanconi anemia gene FACC. Am J Hum Genet 54: 595-601.
86. Wagner JE, Tolar J, Levran O, Scholl T, Deffenbaugh A, Satagopan J et al. (2004). Germline mutations in BRCA2: shared genetic susceptibility to breast cancer, early onset leukemia, and Fanconi anemia. Blood 103: 3226-3229.
87. Waisfisz Q, Morgan NV, Savino M, de Winter JP, van Berkel CGM, Hoatlin ME et al. (1999). Spontaneous functional correction of homozygous Fanconi anaemia alleles reveals novel mechanistic basis for reverse mosaicism. Nat Genet 22: 379-383.
88. Wang X, Andreassen PR, D'Andrea AD. (2004). Functional interaction of monoubiquitinated FANCD2 and BRCA2/FANCD1 in chromatin. Mol Cell Biol 24: 5850-5862.
89. Whitney MA, Saito H, Jakobs PM, Gibson RA, Moses RE, Grompe M. (1993). A common mutation in the FACC gene causes Fanconi anaemia in Ashkenazi Jews. Nat Genet 4: 202-205.
90. Xie Y, de Winter JP, Waisfisz Q, Nieuwint AWM, Scheper RJ, Arwert F et al. (2000). Aberrant Fanconi anaemia protein profiles in acute myeloid leukaemia cells. Br J Haematol 111: 1057-1064.
91. Yamamoto K, Ishiai M, Matsushita N, Arakawa H, Lamerdin JE, Buerstedde JM et al. (2003). Fanconi anemia FANCG protein in mitigating radiation- and enzyme-induced DNA double-strand breaks by homologous recombination in vertebrate cells. Mol Cell Biol 23: 5421-5430.
92. Yamashita T, Wu N, Kupfer G, Korless C, Joenje H, Grompe M et al. (1996). Clinical variability of Fanconi anemia (type C) results from expression of an amino terminal truncated Fanconi anemia complementation group C polypeptide with partial activity. Blood 87: 4424-4432.