Arleen D Auerbach
Affiliation: The Rockefeller University
- Fanconi anemia and its diagnosisArleen 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...
- Phenotyping genetic diseases using an extension of mu-scores for multivariate dataJosé 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...
- Spectrum of sequence variation in the FANCG gene: an International Fanconi Anemia Registry (IFAR) studyArleen 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...
- Spectrum of sequence variations in the FANCA gene: an International Fanconi Anemia Registry (IFAR) studyOrna 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...
- Mutations of the SLX4 gene in Fanconi anemiaYonghwan Kim
Laboratory of Genome Maintenance, The Rockefeller University, New York, New York, USA
Nat Genet 43:142-6. 2011....
- The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemiaOrna 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...
- Diagnosis of fanconi anemia by diepoxybutane analysisArleen 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...
- Hypomorphic mutations in the gene encoding a key Fanconi anemia protein, FANCD2, sustain a significant group of FA-D2 patients with severe phenotypeReinhard 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...
- GST genotype may modify clinical phenotype in patients with Fanconi anaemiaStella 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...
- Phenotypic correction of primary Fanconi anemia T cells with retroviral vectors as a diagnostic toolHelmut 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...
- Fanconi anemia in Ashkenazi JewsDavid 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...
- 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...
- Shared genetic susceptibility to breast cancer, brain tumors, and Fanconi anemiaKenneth 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...
- FAAP100 is essential for activation of the Fanconi anemia-associated DNA damage response pathwayChen 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...
- Human papillomavirus DNA and p53 polymorphisms in squamous cell carcinomas from Fanconi anemia patientsDavid 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...
- FANCI is a second monoubiquitinated member of the Fanconi anemia pathwayAshley 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...
- Genetic heterogeneity among Fanconi anemia heterozygotes and risk of cancerMarianne 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...
- Fludarabine-based cytoreductive regimen and T-cell-depleted grafts from alternative donors for the treatment of high-risk patients with Fanconi anaemiaSonali 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...
- High incidence of head and neck squamous cell carcinoma in patients with Fanconi anemiaDavid 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...
- Recommendations of the 2006 Human Variome Project meetingRichard 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...
- Matched sibling donor haematopoietic stem cell transplantation in Fanconi anaemia: an update of the Cincinnati Children's experienceAzadeh 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...
- Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancerSarah Reid
Section of Cancer Genetics, Institute of Cancer Research, Sutton, Surrey SM2 5NG, UK
Nat Genet 39:162-4. 2007....
- A call for mutationsRichard G H Cotton
Genet Med 7:370. 2005
- Successful engraftment without radiation after fludarabine-based regimen in Fanconi anemia patients undergoing genotypically identical donor hematopoietic cell transplantationPoh 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...
- A rapid method for retrovirus-mediated identification of complementation groups in Fanconi anemia patientsSaurabh 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...
- Germline mutations in BRCA2: shared genetic susceptibility to breast cancer, early onset leukemia, and Fanconi anemiaJohn 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...
- Fatal hemorrhage from androgen-related hepatic adenoma after hematopoietic cell transplantationAshish 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...
- Chemotherapy for myeloid malignancy in children with Fanconi anemiaParinda 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...
- Unrelated donor bone marrow transplantation for the treatment of Fanconi anemiaJohn 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....
- Stem cell collection and gene transfer in Fanconi anemiaPatrick 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...
- Successful umbilical cord blood transplantation for Fanconi anemia using preimplantation genetic diagnosis for HLA-matched donorBella 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...