Fanconi anaemia genes and susceptibility to cancer (original) (raw)
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 Genet11: 3125–3134. ArticleCASPubMed Google Scholar
Alter BP, Joenje H, Oostra AB, Pals G . (2005). Fanconi anemia: adult head and neck cancer and hematopoietic mosaicism. Arch Otolaryngol Head Neck Surg131: 635–639. ArticlePubMed Google Scholar
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 Haematol121: 57–62. ArticleCASPubMed Google Scholar
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).
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 Genet37: 953–957. ArticleCASPubMed Google Scholar
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. Nature434: 913–917. ArticleCASPubMed Google Scholar
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. Blood105: 1946–1949. ArticleCASPubMed Google Scholar
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 USA101: 2357–2362. ArticleCASPubMedPubMed Central Google Scholar
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. Cell105: 149–160. ArticleCASPubMed Google Scholar
Carreau M . (2004). Not-so-novel phenotypes in the Fanconi anemia group D2 mouse model. Blood103: 2430. ArticleCASPubMed Google Scholar
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. Blood106: 698–705. ArticleCASPubMedPubMed Central Google Scholar
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 Ther5: 952–961. ArticleCASPubMed Google Scholar
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 Lymphoma43: 1849–1853. ArticleCASPubMed Google Scholar
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 Genet17: 423–430. ArticleCASPubMed Google Scholar
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 Res65: 383–386. CASPubMed Google Scholar
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 Med7: 814–820. ArticleCASPubMed Google Scholar
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 Invest81: 185–192. ArticleCASPubMed Google Scholar
Fagerlie S, Lensch MW, Pang Q, Bagby Jr GC . (2001). The Fanconi anemia group C gene product: signaling functions in hematopoietic cells. Exp Hematol29: 1371–1381. ArticleCASPubMed Google Scholar
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. Blood96: 4064–4070. CASPubMed Google Scholar
Fanconi G . (1967). Familial constitutional panmyelocytopathy, Fanconi's anemia (F.A.). I. Clinical aspects. Semin Hematol4: 233–240. CASPubMed Google Scholar
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. Nature434: 917–921. ArticleCASPubMed Google Scholar
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 Ther11: 539–546. ArticleCASPubMed Google Scholar
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 Res58: 1338–1343. CASPubMed Google Scholar
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. Blood95: 1493–1498. CASPubMed Google Scholar
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 Genet119: 376–388. ArticleCASPubMed Google Scholar
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. Blood90: 105–110. CASPubMed Google Scholar
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. Blood103: 2554–2559. ArticleCASPubMed Google Scholar
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).
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 Dev17: 1933–1936. ArticleCAS Google Scholar
Howlett NG, Taniguchi T, Olson S, Cox B, Waisfisz Q, de Die-Smulders C et al. (2002). Biallelic inactivation of BRCA2 in Fanconi anemia. Science297: 606–609. ArticleCASPubMed Google Scholar
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 Repair5: 629–640. ArticleCASPubMed Google Scholar
Joenje H, Patel KJ . (2001). The emerging genetic and molecular basis of Fanconi anaemia. Nat Rev Genet2: 446–457. ArticleCASPubMed Google Scholar
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 Cancer39: 366–371. ArticleCASPubMed Google Scholar
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 Surg129: 106–112. ArticlePubMed Google Scholar
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). Blood101: 1249–1256. ArticleCASPubMed Google Scholar
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 Inst95: 1718–1721. ArticleCASPubMed Google Scholar
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. Blood102: 7–16. ArticleCASPubMed Google Scholar
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. Blood103: 2498–2503. ArticleCASPubMed Google Scholar
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 Genet37: 934–935. ArticleCASPubMed Google Scholar
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 Genet37: 931–933. ArticleCASPubMed Google Scholar
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 Res7: R1005–R1016. ArticleCASPubMedPubMed Central Google Scholar
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 Dev11: 1226–1241. ArticleCASPubMed Google Scholar
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 Cancer98: 638–639. ArticleCASPubMed Google Scholar
Lyakhovich A, Surralles J . (2005). Disruption of the Fanconi anemia/BRCA pathway in sporadic cancer. Cancer Lett232: 99–106. ArticleCASPubMed Google Scholar
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. Oncogene23: 1000–1004. ArticleCASPubMed Google Scholar
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 Genet35: 165–170. ArticleCASPubMed Google Scholar
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 Genet36: 1142–1143. ArticleCAS Google Scholar
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 Genet37: 958–963. ArticleCASPubMedPubMed Central Google Scholar
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 Haematol133: 284–292. ArticleCASPubMed Google Scholar
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. Blood105: 3542–3544. ArticleCAS Google Scholar
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 Biol12: 763–771. ArticleCASPubMed Google Scholar
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 Res64: 2994–2997. ArticleCASPubMed Google Scholar
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 Inst95: 1548–1551. ArticleCASPubMed Google Scholar
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 Cytogenet126: 52–55. ArticleCASPubMed Google Scholar
Potter NU, Sarmousakis C, Li FP . (1983). Cancer in relatives of patients with aplastic anemia. Cancer Genet Cytogenet9: 61–65. ArticleCASPubMed Google Scholar
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 Genet42: 147–151. ArticleCASPubMedPubMed Central Google Scholar
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 Res289: 211–221. ArticleCASPubMed Google Scholar
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 Genet41: er126. Article Google Scholar
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 Ther3: 167–169. ArticleCASPubMed Google Scholar
Rosenberg PS, Greene MH, Alter BP . (2003). Cancer incidence in persons with Fanconi anemia. Blood101: 822–826. ArticleCASPubMed Google Scholar
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. Blood105: 67–73. ArticleCASPubMed Google Scholar
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 Genet27: 793–797. ArticleCASPubMed Google Scholar
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 Mutat22: 121–128. ArticleCASPubMed Google Scholar
Schroeder TM, Anschutz F, Knopp A . (1964). Spontaneous chromosome aberrations in familial panmyelopathy. Humangenetik1: 194–196. CASPubMed Google Scholar
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 Res63: 8596–8599. CASPubMed Google Scholar
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. Nature386: 804–810. ArticleCASPubMed Google Scholar
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 Cancer4: 9. ArticlePubMedPubMed Central Google Scholar
Surralles J, Jackson SP, Jasin M, Kastan MB, West SC, Joenje H . (2004). Molecular cross-talk among chromosome fragility syndromes. Genes Dev18: 1359–1370. ArticleCASPubMedPubMed Central Google Scholar
Swift M, Caldwell RJ, Chase C . (1980). Reassessment of cancer predisposition of Fanconi anemia heterozygotes. J Natl Cancer Inst65: 863–867. CASPubMed Google Scholar
Taniguchi T, D’Andrea AD . (2006). The molecular pathogenesis of Fanconi Anemia: recent progress. Blood107: 4223–4233. ArticleCASPubMed Google Scholar
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 Med9: 568–574. ArticleCASPubMed Google Scholar
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. Chapter Google Scholar
Thompson LH, Hinz JM, Yamada NA, Jones NJ . (2005). How Fanconi anemia proteins promote the four Rs: replication, recombination, repair and recovery. Environ Mol Mutagen45: 128–142. ArticleCASPubMed Google Scholar
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 USA98: 5734–5739. ArticleCASPubMedPubMed Central Google Scholar
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 Haematol123: 469–471. ArticleCASPubMed Google Scholar
Tischkowitz M, Dokal I . (2004). Fanconi anaemia and leukaemia – clinical and molecular aspects. Br J Haematol126: 176–191. ArticleCASPubMed Google Scholar
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. Leukemia18: 420–425. ArticleCASPubMed Google Scholar
Vahteristo P, Yliannala K, Tamminen A, Eerola H, Blomqvist C, Nevanlinna H . (2006). BACH1 Ser919Pro variant and breast cancer risk. BMC Cancer6: 19. ArticleCASPubMedPubMed Central Google Scholar
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 Pathol165: 651–657. ArticleCASPubMedPubMed Central Google Scholar
van der Heijden MS, Yeo CJ, Hruban RH, Kern SE . (2003). Fanconi anemia gene mutations in young-onset pancreatic cancer. Cancer Res63: 2585–2588. CASPubMed Google Scholar
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 Inst96: 968–969. ArticleCASPubMed Google Scholar
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. Blood86: 4034–4038. CASPubMed Google Scholar
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 Genet54: 595–601. CASPubMedPubMed Central Google Scholar
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. Blood103: 3226–3229. ArticleCASPubMed Google Scholar
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 Genet22: 379–383. ArticleCASPubMed Google Scholar
Wang X, Andreassen PR, D’Andrea AD . (2004). Functional interaction of monoubiquitinated FANCD2 and BRCA2/FANCD1 in chromatin. Mol Cell Biol24: 5850–5862. ArticleCASPubMedPubMed Central Google Scholar
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 Genet4: 202–205. ArticleCASPubMed Google Scholar
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 Haematol111: 1057–1064. ArticleCASPubMed Google Scholar
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 Biol23: 5421–5430. ArticleCASPubMedPubMed Central Google Scholar
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. Blood87: 4424–4432. CASPubMed Google Scholar