Arleen D Auerbach

Summary

Affiliation: The Rockefeller University
Country: USA

Publications

  1. ncbi request reprint High incidence of head and neck squamous cell carcinoma in patients with Fanconi anemia
    David I Kutler
    Division of Head and Neck Surgery, Department of Surgery, Memorial Sloan Kettering Cancer Center, 1275 York Ave, New York, NY 10021, USA
    Arch Otolaryngol Head Neck Surg 129:106-12. 2003
  2. ncbi request reprint Spectrum of sequence variation in the FANCG gene: an International Fanconi Anemia Registry (IFAR) study
    Arleen D Auerbach
    Laboratory of Human Genetics and Hematology, Rockefeller University, New York, New York 10021 6399, USA
    Hum Mutat 21:158-68. 2003
  3. pmc Regulation of multiple DNA repair pathways by the Fanconi anemia protein SLX4
    Yonghwan Kim
    Laboratory of Genome Maintenance, Rockefeller University, New York, NY 10065 6399, USA
    Blood 121:54-63. 2013
  4. ncbi request reprint Spectrum of sequence variations in the FANCA gene: an International Fanconi Anemia Registry (IFAR) study
    Orna Levran
    Laboratory of Human Genetics and Hematology, Rockefeller University, New York, New York 10021 6399, USA
    Hum Mutat 25:142-9. 2005
  5. ncbi request reprint Fanconi anemia in Ashkenazi Jews
    David I Kutler
    Department of Otolaryngology, New York University Medical Center, New York, USA
    Fam Cancer 3:241-8. 2004
  6. ncbi request reprint Human papillomavirus DNA and p53 polymorphisms in squamous cell carcinomas from Fanconi anemia patients
    David I Kutler
    Laboratory of Epithelial Cancer Biology, Division of Head and Neck Surgery, Department of Surgery, Memorial Sloan Kettering Cancer Center, New York, NY 10021, USA
    J Natl Cancer Inst 95:1718-21. 2003
  7. pmc Mutations of the SLX4 gene in Fanconi anemia
    Yonghwan Kim
    Laboratory of Genome Maintenance, The Rockefeller University, New York, New York, USA
    Nat Genet 43:142-6. 2011
  8. pmc Fanconi anemia and its diagnosis
    Arleen D Auerbach
    Laboratory of Human Genetics and Hematology, The Rockefeller University, 1230 York Avenue, New York, NY 10065, United States
    Mutat Res 668:4-10. 2009
  9. ncbi request reprint The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia
    Orna Levran
    Laboratory for Human Genetics and Hematology, The Rockefeller University, New York, New York, USA
    Nat Genet 37:931-3. 2005
  10. ncbi request reprint Shared genetic susceptibility to breast cancer, brain tumors, and Fanconi anemia
    Kenneth Offit
    Clinical Genetics Service, Memorial Sloan Kettering Cancer Center, New York, NY 10021, USA
    J Natl Cancer Inst 95:1548-51. 2003

Collaborators

Detail Information

Publications32

  1. ncbi request reprint High incidence of head and neck squamous cell carcinoma in patients with Fanconi anemia
    David I Kutler
    Division of Head and Neck Surgery, Department of Surgery, Memorial Sloan Kettering Cancer Center, 1275 York Ave, New York, NY 10021, USA
    Arch Otolaryngol Head Neck Surg 129:106-12. 2003
    ..Recent evidence suggests that the incidence of head and neck squamous cell carcinoma (HNSCC) may be increased in patients with FA...
  2. ncbi request reprint Spectrum of sequence variation in the FANCG gene: an International Fanconi Anemia Registry (IFAR) study
    Arleen D Auerbach
    Laboratory of Human Genetics and Hematology, Rockefeller University, New York, New York 10021 6399, USA
    Hum Mutat 21:158-68. 2003
    ..Our data suggest that the Portuguese-Brazilian, French-Acadian, and Korean/Japanese mutations were likely to have been present in a founding member of each of these populations...
  3. pmc Regulation of multiple DNA repair pathways by the Fanconi anemia protein SLX4
    Yonghwan Kim
    Laboratory of Genome Maintenance, Rockefeller University, New York, NY 10065 6399, USA
    Blood 121:54-63. 2013
    ..These results demonstrate that SLX4 modulates multiple DNA repair pathways by regulating appropriate nucleases...
  4. ncbi request reprint Spectrum of sequence variations in the FANCA gene: an International Fanconi Anemia Registry (IFAR) study
    Orna Levran
    Laboratory of Human Genetics and Hematology, Rockefeller University, New York, New York 10021 6399, USA
    Hum Mutat 25:142-9. 2005
    ..In addition, a conserved SNP haplotype block spanning at least 60 kb of the FANCA gene was identified in individuals from various ethnic groups...
  5. ncbi request reprint Fanconi anemia in Ashkenazi Jews
    David I Kutler
    Department of Otolaryngology, New York University Medical Center, New York, USA
    Fam Cancer 3:241-8. 2004
    ..6174delT in FANCD1/BRCA2 are also unique to the Ashkenazi Jewish population. Therefore, the study of Fanconi anemia can lend insight into the types of cancer-predisposing genetic diseases specific to the Ashkenazi...
  6. ncbi request reprint Human papillomavirus DNA and p53 polymorphisms in squamous cell carcinomas from Fanconi anemia patients
    David I Kutler
    Laboratory of Epithelial Cancer Biology, Division of Head and Neck Surgery, Department of Surgery, Memorial Sloan Kettering Cancer Center, New York, NY 10021, USA
    J Natl Cancer Inst 95:1718-21. 2003
    ..05). These data suggest that Fanconi anemia is associated with increased susceptibility to HPV-induced carcinogenesis...
  7. pmc Mutations of the SLX4 gene in Fanconi anemia
    Yonghwan Kim
    Laboratory of Genome Maintenance, The Rockefeller University, New York, New York, USA
    Nat Genet 43:142-6. 2011
    ....
  8. pmc Fanconi anemia and its diagnosis
    Arleen D Auerbach
    Laboratory of Human Genetics and Hematology, The Rockefeller University, 1230 York Avenue, New York, NY 10065, United States
    Mutat Res 668:4-10. 2009
    ..This overview will present our current knowledge regarding the varied phenotypic manifestations of FA and procedures for diagnosis based upon abnormal DNA damage responses...
  9. ncbi request reprint The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia
    Orna Levran
    Laboratory for Human Genetics and Hematology, The Rockefeller University, New York, New York, USA
    Nat Genet 37:931-3. 2005
    ..Using genetic mapping, mutation identification and western-blot data, we identify the defective protein in FA-J cells as BRIP1 (also called BACH1), a DNA helicase that is a binding partner of the breast cancer tumor suppressor BRCA1...
  10. ncbi request reprint Shared genetic susceptibility to breast cancer, brain tumors, and Fanconi anemia
    Kenneth Offit
    Clinical Genetics Service, Memorial Sloan Kettering Cancer Center, New York, NY 10021, USA
    J Natl Cancer Inst 95:1548-51. 2003
    ..Individuals who carry a germline BRCA2 mutation and who plan to have children with a partner of Ashkenazi Jewish descent should consider undergoing genetic counseling...
  11. doi request reprint Phenotyping genetic diseases using an extension of mu-scores for multivariate data
    José F Morales
    The Rockefeller University
    Stat Appl Genet Mol Biol 7:Article 19. 2008
    ..The proposed extension increases information content of the phenotype scores obtained and, thereby, the power of genotype-phenotype relationships studies...
  12. ncbi request reprint FANCI is a second monoubiquitinated member of the Fanconi anemia pathway
    Ashley E Sims
    Department of Biochemistry, New York University School of Medicine, New York, New York 10016, USA
    Nat Struct Mol Biol 14:564-7. 2007
    ..Biallelic mutations in the gene coding for this protein were found in cells from four FA patients, including an FA-I reference cell line...
  13. ncbi request reprint A 20-year perspective on the International Fanconi Anemia Registry (IFAR)
    David I Kutler
    Memorial Sloan Kettering Cancer Center, New York, NY, USA
    Blood 101:1249-56. 2003
    ..The results of this study of patients registered in the IFAR over a 20-year period provide information that will enable better prediction of outcome and aid clinicians with decisions regarding major therapeutic modalities...
  14. doi request reprint Fludarabine-based cytoreductive regimen and T-cell-depleted grafts from alternative donors for the treatment of high-risk patients with Fanconi anaemia
    Sonali Chaudhury
    Bone Marrow Transplant Service, Department of Pediatrics, Memorial Sloan Kettering Cancer Center, New York, New York 10021, USA
    Br J Haematol 140:644-55. 2008
    ..These are encouraging results of T-cell-depleted transplants from alternative donors using fludarabine-based cytoreduction in 18 high-risk patients with Fanconi anaemia, with no evidence of rejection and minimal GVHD...
  15. doi request reprint Diagnosis of fanconi anemia by diepoxybutane analysis
    Arleen D Auerbach
    Rockefeller University, New York, New York, USA
    Curr Protoc Hum Genet . 2003
    ..Fanconi anemia (FA) is an autosomal recessive syndrome characterized by progressive pancytopenia and a high risk of malignanci...
  16. pmc Hypomorphic mutations in the gene encoding a key Fanconi anemia protein, FANCD2, sustain a significant group of FA-D2 patients with severe phenotype
    Reinhard Kalb
    Department of Human Genetics, University of Wurzburg, Wurzburg, Germany
    Am J Hum Genet 80:895-910. 2007
    ..Although hypomorphic mutations arie involved, clinically, these patients have a relatively severe form of FA...
  17. ncbi request reprint Phenotypic correction of primary Fanconi anemia T cells with retroviral vectors as a diagnostic tool
    Helmut Hanenberg
    Klinik für Pädiatrische Hämatologie und Onkologie, Zentrum fur Kinderheilkunde, Heinrich Heine Universitat, Dusseldorf, Germany
    Exp Hematol 30:410-20. 2002
    ..The aim of this study was to develop a rapid laboratory procedure that is capable of subtyping Fanconi anemia (FA) complementation groups FA-A, FA-C, FA-G, and FA-nonACG patients from a small amount of peripheral blood...
  18. ncbi request reprint GST genotype may modify clinical phenotype in patients with Fanconi anaemia
    Stella M Davies
    Cincinnati Children s Hospital Medical Center, Cincinnati, OH 45329, USA
    Br J Haematol 131:118-22. 2005
    ..GSTM1 genotype significantly influenced time to bone marrow failure in complementation group FA-C, (median age 3.0 years vs. 7.0 years, P < 0.01). GSTP1 genotype did not influence FA phenotype...
  19. pmc Unrelated donor bone marrow transplantation for the treatment of Fanconi anemia
    John E Wagner
    Division of Pediatric Hematology, Oncology, and Blood and Marrow Transplantation, University of Minnesota Blood and Marrow Transplant Program, Minneapolis, MN 55455, USA
    Blood 109:2256-62. 2007
    ....
  20. ncbi request reprint Fatal hemorrhage from androgen-related hepatic adenoma after hematopoietic cell transplantation
    Ashish R Kumar
    Bone Marrow Transplant Program and Department of Pediatrics, University of Minnesota, Minneapolis, Minnesota, USA
    J Pediatr Hematol Oncol 26:16-8. 2004
    ..This case illustrates the need for extra vigilance in the detection and management of hepatic adenomas in patients treated with androgens, especially prior to HCT...
  21. ncbi request reprint Germline mutations in BRCA2: shared genetic susceptibility to breast cancer, early onset leukemia, and Fanconi anemia
    John E Wagner
    Division of Pediatric Hematology, Oncology, and Blood Marrow Transplantation, University of Minnesota Medical School, Minneapolis, MN, USA
    Blood 103:3226-9. 2004
    ..Our results suggest that BRCA2 testing should be considered in all patients with FA in whom the complementation group cannot be defined or in whom leukemia is diagnosed at or before 5 years of age...
  22. ncbi request reprint Successful umbilical cord blood transplantation for Fanconi anemia using preimplantation genetic diagnosis for HLA-matched donor
    Bella Bielorai
    Department of Pediatric Hematology Oncology and BMT, Sheba Medical Center, Tel Hashomer affiliated to the Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel
    Am J Hematol 77:397-9. 2004
    ..PGD can provide an unaffected donor for a sibling affected by genetic disease in the absence of a compatible related donor...
  23. ncbi request reprint A call for mutations
    Richard G H Cotton
    Genet Med 7:370. 2005
  24. ncbi request reprint Successful engraftment without radiation after fludarabine-based regimen in Fanconi anemia patients undergoing genotypically identical donor hematopoietic cell transplantation
    Poh Lin Tan
    Department of Pediatrics, Blood and Marrow Transplant Program, University of Minnesota, Minneapolis, Minnesota 55455, USA
    Pediatr Blood Cancer 46:630-6. 2006
    ..GVHD prophylaxis consisted of cyclosporine and short course methylprednisolone...
  25. pmc Genetic heterogeneity among Fanconi anemia heterozygotes and risk of cancer
    Marianne Berwick
    Cancer Research and Treatment Center Internal Medicine, University of New Mexico, Albuquerque, New Mexico, USA
    Cancer Res 67:9591-6. 2007
    ..4; 95% CI, 1.1-5.2). Overall, there was no increased risk for cancer among FA heterozygotes in this study of Fanconi relatives, although there is some evidence that FANCC mutations are possibly breast cancer susceptibility alleles...
  26. ncbi request reprint A rapid method for retrovirus-mediated identification of complementation groups in Fanconi anemia patients
    Saurabh Chandra
    Division of Experimental Hematology and Fanconi Anemia Comprehensive Care Center, Cincinnati Children s Hospital Medical Center, 3333 Burnet Avenue, Cincinnati, OH 45229, USA
    Mol Ther 12:976-84. 2005
    ..This assay has now been established in a standardized fashion for complementation assignments in FA patients and the subsequent directing of rapid mutation analysis in those patients...
  27. pmc FAAP100 is essential for activation of the Fanconi anemia-associated DNA damage response pathway
    Chen Ling
    Laboratory of Genetics, National Institute on Aging, National Institutes of Health, Baltimore, MD 21224, USA
    EMBO J 26:2104-14. 2007
    ..Our study identifies FAAP100 as a new critical component of the FA-BRCA DNA damage response network...
  28. ncbi request reprint Recommendations of the 2006 Human Variome Project meeting
    Richard G H Cotton
    Genomic Disorders Research Centre, St Vincent s Hospital Melbourne, 35 Victoria Parade, Melbourne, Victoria 3065, Australia
    Nat Genet 39:433-6. 2007
    ..Here we summarize the background of the project, the meeting and its recommendations...
  29. ncbi request reprint Matched sibling donor haematopoietic stem cell transplantation in Fanconi anaemia: an update of the Cincinnati Children's experience
    Azadeh Farzin
    Divisions of Hematology Oncology, Cincinnati Children s Hospital Medical Center, University of Cincinnati, Cincinnati, OH 45229, USA
    Br J Haematol 136:633-40. 2007
    ..These data indicate excellent long-term outcomes and serve as a reference for newer radiation-free preparative regimes that may reduce the risk of late secondary malignancy...
  30. ncbi request reprint Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer
    Sarah Reid
    Section of Cancer Genetics, Institute of Cancer Research, Sutton, Surrey SM2 5NG, UK
    Nat Genet 39:162-4. 2007
    ....
  31. ncbi request reprint Stem cell collection and gene transfer in Fanconi anemia
    Patrick F Kelly
    Fanconi Anemia Comprehensive Care Center, Divisions of Experimental Hematology and Hematology Oncology, Cincinnati Children s Hospital Medical Center, University of Cincinnati, Cincinnati, Ohio, USA
    Mol Ther 15:211-9. 2007
    ..Our early experience shows that stem cell collection is well tolerated in FA patients and suggests that collection be considered as early as possible in patients who are potential candidates for future gene transfer trials...
  32. ncbi request reprint Chemotherapy for myeloid malignancy in children with Fanconi anemia
    Parinda A Mehta
    Fanconi Anemia Comprehensive Care Center, Cincinnati Children s Hospital Medical Center CCHMC, Cincinnati, Ohio 45229, USA
    Pediatr Blood Cancer 48:668-72. 2007
    ..In this report we describe the toxicity of a chemotherapy approach for patients with FA and myeloid malignancy to achieve cytoreduction prior to SCT...