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Genomes and Genes | Blanche P AlterSummaryAffiliation: National Institutes of Health Country: USA Publications
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Telomere length is associated with disease severity and declines with age in dyskeratosis congenitaBlanche P Alter
Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Rockville, MD 20852 7231, USA
Haematologica 97:353-9. 2012..Dyskeratosis congenita is a cancer-prone bone marrow failure syndrome caused by aberrations in telomere biology...
Cancer in Fanconi anemia, 1927-2001Blanche P Alter
Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, Maryland 20892 7231, USA
Cancer 97:425-40. 2003..A review of all reported cases is informative with regard to the specific types of cancer, the ages at which they occur, and the cumulative probability of their development...- Malignancies and survival patterns in the National Cancer Institute inherited bone marrow failure syndromes cohort studyBlanche P Alter
Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD 20852 7231, USA
Br J Haematol 150:179-88. 2010..The findings demonstrate that both FA and DC are major cancer susceptibility syndromes. The IBMFS, historically considered paediatric disorders, have important management implications for physicians treating adult patients... - Fanconi anemia: adult head and neck cancer and hematopoietic mosaicismBlanche P Alter
Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Department of Health and Human Services, Bethesda, MD, USA
Arch Otolaryngol Head Neck Surg 131:635-9. 2005 - Fanconi's anemia, transplantation, and cancerBlanche P Alter
Department of Health and Human Services, Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD, USA
Pediatr Transplant 9:81-6. 2005..In this group, the major types of cancer are head and neck squamous cell carcinomas, and gynecologic malignancies. Rapid evaluation of new SCT preparative regimens would be useful in improving both short-term and long-term results... - Clinical and molecular features associated with biallelic mutations in FANCD1/BRCA2Blanche P Alter
Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, 6120 Executive Blvd, Executive Plaza South, Room 7020, Rockville, MD 20852 7231, USA
J Med Genet 44:1-9. 2007..Several of the alleles were not associated with cancer in presumed carriers, and thus counselling presents more uncertainties than usual... - Bone marrow failure syndromes in childrenBlanche P Alter
Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD 20854 7231, USA
Pediatr Clin North Am 49:973-88. 2002..Thus, the disorders included under the rubric "inherited bone marrow failure syndromes" have clinical. hematologic, oncologic, and genetic diversity... - Cancer in dyskeratosis congenitaBlanche P Alter
Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health DHHS, 6120 Executive Blvd, Executive Plaza South, Rockville, MD 20852 7231, USA
Blood 113:6549-57. 2009.... - Very short telomere length by flow fluorescence in situ hybridization identifies patients with dyskeratosis congenitaBlanche P Alter
Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD 20852 7231, USA
Blood 110:1439-47. 2007.... - Growth hormone and the risk of malignancyBlanche P Alter
Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Department of Health and Human Services, Rockville, Maryland, USA
Pediatr Blood Cancer 43:534-5. 2004 - The relationship between DNA methylation and telomere length in dyskeratosis congenitaShahinaz M Gadalla
Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, MD 20852, USA
Aging Cell 11:24-8. 2012..17), subtelomeric (r = -0.20) were present in unaffected relatives. This study suggests an interaction between TL and both subtelomeric and LINE-1 methylation, which may be altered based on mutation status of telomere biology genes... - Stable long-term risk of leukaemia in patients with severe congenital neutropenia maintained on G-CSF therapyPhilip S Rosenberg
Biostatistics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD 20852, USA
Br J Haematol 150:196-9. 2010..Long-term, the annual risk of MDS/AML attained a plateau (2.3%/year after 10 years). This risk now appears similar to, rather than higher than, the risk of AML in Fanconi anaemia and dyskeratosis congenita... - Cancer incidence in persons with Fanconi anemiaPhilip S Rosenberg
Biostatistics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, USA
Blood 101:822-6. 2003..The risk of a solid tumor may become even higher as death from aplastic anemia is reduced and as patients survive longer after BMT... - Neutrophil elastase mutations and risk of leukaemia in severe congenital neutropeniaPhilip S Rosenberg
Biostatistics Branch, Division of Cancer Epidemiology and Genetics, Department of Health and Human Services, National Cancer Institute, National Institutes of Health, Rockville, MD, USA
Br J Haematol 140:210-3. 2008..96). Patients with either mutant or wild-type ELA2 should be followed closely for leukaemic transformation... 
Cancer risks in Fanconi anemia: findings from the German Fanconi Anemia RegistryPhilip S Rosenberg
Biostatistics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, 6120 Executive Blvd, Executive Plaza South, Room 8022, Rockville 20852 7244 USA
Haematologica 93:511-7. 2008..Prior epidemiological studies have quantified the risks of bone marrow failure, acute myeloid leukemia and solid tumors, but these estimates have not been replicated...- All in the family: disclosure of "unwanted" information to an adolescent to benefit a relativeColleen C Denny
Department of Bioethics, National Institutes of Health Clinical Center, Bethesda, Maryland, USA
Am J Med Genet A 146:2719-24. 2008..However, an expanded ethical analysis that considers the adolescent's familial context offers a more complete picture of the adolescent's interests and preferences which provides justification for disclosure... - Polymorphisms in cytokine and cellular adhesion molecule genes and susceptibility to hematotoxicity among workers exposed to benzeneQing Lan
Division of Cancer Epidemiology, National Cancer Institute, NIH, Department of Health and Human Services, Bethesda, MD 20892 7240, USA
Cancer Res 65:9574-81. 2005..041) and increased (P = 0.076) CFU-GEMM progenitor cell colony formation in 29 benzene-exposed workers. This is the first report to provide evidence that SNPs in genes that regulate hematopoiesis influence benzene-induced hematotoxicity... - Individualized risks of first adverse events in patients with Fanconi anemiaPhilip S Rosenberg
Biostatistics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, 6120 Executive Blvd, Executive Plaza South, Rm 7006, Rockville, MD 20852 7244, USA
Blood 104:350-5. 2004..6% to 29% in the highest and lowest BMF risk groups, respectively. Abnormal radii are the strongest predictor of early BMF in FA; a congenital abnormality score separates patients with normal radii into distinct prognostic groups... - Ocular and orbital manifestations of the inherited bone marrow failure syndromes: Fanconi anemia and dyskeratosis congenitaEkaterini T Tsilou
Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland 20892, USA
Ophthalmology 117:615-22. 2010..All 4 syndromes have been associated with various physical abnormalities. As part of a genotype/phenotype/cancer susceptibility study, we determined the prevalence of ophthalmic manifestations in these 4 syndromes... - Cancer survivorship--genetic susceptibility and second primary cancers: research strategies and recommendationsLois B Travis
Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, MD 20892, USA
J Natl Cancer Inst 98:15-25. 2006..These research areas warrant high priority to promote NCI's goal of eliminating pain and suffering related to cancer... - Risk of head and neck squamous cell cancer and death in patients with Fanconi anemia who did and did not receive transplantsPhilip S Rosenberg
Biostatistics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, MD 20852 7244, USA
Blood 105:67-73. 2005..13% per month (1.6% per year) after the first year. Acute and chronic graft-versus-host diseases were significant SCC risk factors. Adverse event rates in these cohorts provide historical control rates to assess emerging therapies for FA... - Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenitaBari J Ballew
Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, 6120 Executive Blvd EPS 7018, Rockville, MD 20892, USA
Hum Genet 132:473-80. 2013..These findings implicate a new telomere biology gene, RTEL1, in the etiology of DC... - Endocrine abnormalities in patients with Fanconi anemiaNeelam Giri
Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, 6120 Executive Boulevard EPS 7024, Rockville, Maryland 20852, USA
J Clin Endocrinol Metab 92:2624-31. 2007..Fanconi anemia (FA) is an inherited disorder with chromosomal instability, bone marrow failure, developmental defects, and a predisposition to cancer. Systematic and comprehensive endocrine function data in FA are limited... - The role of telomere biology in bone marrow failure and other disordersSharon A Savage
Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, MD 20892, United States
Mech Ageing Dev 129:35-47. 2008..Longitudinal studies of patients with very short telomeres but without classical DC are necessary to further understand the long-term sequelae, such as malignancy, osteonecrosis/osteoporosis, and pulmonary and liver disease... - TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenitaSharon A Savage
Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, MD 20892, USA
Am J Hum Genet 82:501-9. 2008..This represents the first shelterin complex mutation linked to human disease and confirms the role of very short telomeres as a diagnostic test for DC... - Estimation of the prevalence of Fanconi anemia among patients with de novo acute myelogenous leukemia who have poor recovery from chemotherapyAndrzej Rochowski
Center for Cancer and Blood Disorders, Children s National Medical Center, Washington, DC, USA
Leuk Res 36:29-31. 2012..18%, and around 0.83% in the subset who had poor marrow recovery. We suggest that FA or other inherited bone marrow failure syndromes be considered prior to treatment, or certainly among those with poor recovery... - A comprehensive functional characterization of BRCA2 variants associated with Fanconi anemia using mouse ES cell-based assayKajal Biswas
Mouse Cancer Genetics Program, Center for Cancer Research, National Cancer Institute at Frederick, Frederick, MD, USA
Blood 118:2430-42. 2011..L2510P, p.R2336H, and p.W2626C) to be deleterious and 2 (p.I2490T and p.K2729N) probably neutral. Such studies are important to understand the functional significance of unclassified BRCA2 variants... - Dyskeratosis congenitaSharon A Savage
Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, 6120 Executive Boulevard, Rockville, MD 20852, USA
Hematol Oncol Clin North Am 23:215-31. 2009.... - Dyskeratosis congenita: the first NIH clinical research workshopSharon A Savage
Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, Maryland 20892, USA
Pediatr Blood Cancer 53:520-3. 2009..dcoutreach.com/). Ongoing, open collaboration between the clinical, scientific, and family communities is required for continued improvement in our understanding of DC and the clinical consequences of telomeric defects... - The incidence of leukemia and mortality from sepsis in patients with severe congenital neutropenia receiving long-term G-CSF therapyPhilip S Rosenberg
Biostatistics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, MD 20852 7244, USA
Blood 107:4628-35. 2006..Risk of MDS/AML may be similar in SDS and SCN. In less-responsive SCN patients, early hematopoietic stem cell transplantation may be a rational option... - Secular trends in outcomes for Fanconi anemia patients who receive transplants: implications for future studiesPhilip S Rosenberg
Biostatistics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, MD 20852, USA
Biol Blood Marrow Transplant 11:672-9. 2005..To demonstrate further advances in survival, transplant centers may need to coordinate their protocols and engage in multicenter collaborative studies... - Sequence analysis of the shelterin telomere protection complex genes in dyskeratosis congenitaSharon A Savage
Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Department of Health and Human Services, Bethesda, MD, USA
J Med Genet 48:285-8. 2011..The shelterin complex consists of six proteins encoded by TINF2, ACD, POT1, TERF1, TERF2 and TERF2IP, which are essential for telomeric stability. TINF2 mutations are present in 11-25% of patients with DC... - Telomere length in blood, buccal cells, and fibroblasts from patients with inherited bone marrow failure syndromesShahinaz M Gadalla
Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, MD 20852, USA
Aging (Albany NY) 2:867-74. 2010..66, p=0.002), blood and buccal cells (r=0.74, p<0.0001), and fibroblast and buccal cells (r=0.65, p=0.004). These data suggest that relative TL is tissue-independent in DC and possibly in the other IBMFS... - Patients with Fanconi anemia and AML have different cytogenetic clones than de novo cases of AMLAndrzej Rochowski
Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, Maryland 20852 7231, USA
Pediatr Blood Cancer 59:922-4. 2012..Observation of the FA AML cytogenetic clonal patterns should raise suspicion of an underlying leukemia predisposition syndrome and influence management... - Bone marrow cell cycle markers in inherited bone marrow failure syndromesMohamad M Al-Rahawan
Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD, USA
Leuk Res 32:1793-9. 2008..The patterns of expression of cell cycle markers in IBMFS are thus distinct. Longitudinal studies will determine the diagnostic and prognostic significance of these findings... - How high are carrier frequencies of rare recessive syndromes? Contemporary estimates for Fanconi Anemia in the United States and IsraelPhilip S Rosenberg
Biostatistics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Rockville, Maryland, USA
Am J Med Genet A 155:1877-83. 2011..Assessment of cancer risks in heterozygous carriers merits further study. Clinical trials in FA will require co-ordination and innovative design because the number of living US patients is probably less than 1,000... - Androgens and liver tumors: Fanconi's anemia and non-Fanconi's conditionsIsela Velazquez
Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Department of Health and Human Services, Bethesda, Maryland 20892, USA
Am J Hematol 77:257-67. 2004..The magnitude of the risk cannot be determined from currently available data, because the number of patients receiving androgens is unknown... - Thrombocytopenia, multiple mucosal squamous cell carcinomas, and dyspigmentationMarisa Braun
Dermatology Branch, Center for Cancer Research, Division of Cancer Epidemiology and Research, National Institutes of Health, Bethesda, Maryland, USA
J Am Acad Dermatol 54:1056-9. 2006 - Erythrocyte adenosine deaminase: diagnostic value for Diamond-Blackfan anaemiaJohn H Fargo
Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, MD, USA Center for Cancer and Blood Disorders, Children s National Medical Center, Washington, DC, USA
Br J Haematol 160:547-54. 2013..Erythrocyte ADA segregated with, as well as independent of, known DBA gene mutations. While eADA was an excellent confirmatory test for DBA, 16% of patients with classical clinical DBA had a normal eADA... - Lung transplantation for pulmonary fibrosis in dyskeratosis congenita: Case Report and systematic literature reviewNeelam Giri
Division of Cancer Epidemiology and Genetics, Clinical Genetics Branch, National Cancer Institute, National Institutes of Health, Rockville 20852, MD, USA
BMC Blood Disord 11:3. 2011..abstract:.. - Neutrophil functions in patients with inherited bone marrow failure syndromesAndrzej Rochowski
Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, Maryland 20852 7231, USA
Pediatr Blood Cancer 57:306-9. 2011..Previous studies reported decreased neutrophil chemotaxis in patients with SDS; there are no reports of neutrophil function in other IBMFS. In this study we examined neutrophil respiratory burst function in IBMFS patients... - Hematotoxicity in workers exposed to low levels of benzeneQing Lan
Division of Cancer Epidemiology and Genetics, National Cancer Institute (NCI, National Institutes of Health (NIH, Department of Health and Human Services (DHHS, Bethesda, MD 20892, USA
Science 306:1774-6. 2004..Thus, hematotoxicity from exposure to benzene occurred at air levels of 1 ppm or less and may be particularly evident among genetically susceptible subpopulations... - Radiosensitivity in Fanconi's anemia patientsBlanche P Alter
Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, 6120 Executive Boulevard, EPS 7020, Rockville, MD 20852, USA
Radiother Oncol 62:345-7. 2002..Possible toxicity was reported in six of 14 patients: 1/1 with vaginal cancer, 4/10 with head and neck or esophageal cancer, and 1/3 with oral cancer following bone marrow transplant... - Mutations in the reverse transcriptase component of telomerase (TERT) in patients with bone marrow failureSharon A Savage
Blood Cells Mol Dis 37:134-6. 2006 - Cancer in Fanconi anemiaBlanche P Alter
Blood 101:2072. 2003 - Malignant myeloid transformation in congenital forms of neutropeniaMelvin H Freedman
Division of Hematology Oncology and Research Institute, Hospital for Sick Children, University of Toronto, Toronto, Canada
Isr Med Assoc J 4:1011-4. 2002..The issue is complicated because both disorders have a propensity for MDS or AML as part of their natural history... - Shwachman-Diamond syndrome: report from an international conferenceRobert Rothbaum
St Louis Children's Hospital, St Louis, Missouri, USA
J Pediatr 141:266-70. 2002 - The association between FANCD1/BRCA2 mutations and leukaemiaBlanche P Alter
Br J Haematol 133:446-8; author reply 448. 2006 - Use of single nucleotide polymorphism arrays to identify a novel region of loss on chromosome 6q in squamous cell carcinomas of the oral cavityBetty C Tong
Department of Otolaryngology-Head and Neck Surgery, Head and Neck Cancer Research Division, Johns Hopkins Medical School, 818 Ross Research Building, 720 Rutland Avenue, Baltimore, Maryland 21205-2196, USA
Head Neck 26:345-52. 2004.... - Risk of myelodysplastic syndrome and acute myeloid leukemia in congenital neutropeniasMelvin H Freedman
Division of Hematology-Oncology and the Research Institute, Hospital for Sick Children, University of Toronto, Toronto, Canada
Semin Hematol 39:128-33. 2002..One option is to reduce the G-CSF dosage as much as possible, and observe the tempo of progression, if any, to more overt signs of malignancy... - Granulocyte colony-stimulating factor and severe aplastic anemiaBlanche P Alter
Blood 109:4589; author reply 4589-90. 2007 - Lineage-specific hematopoietic growth factorsDavid C Dale
N Engl J Med 355:526-7; author reply 527. 2006 - Intensive immunosuppression therapy for aplastic anemia associated with dyskeratosis congenitaMohamad M Al-Rahawan
Int J Hematol 83:275-6. 2006 - The CCC system: is it really the answer to pediatric MDS?Blanche P Alter
J Pediatr Hematol Oncol 25:426-7; author reply 427-8. 2003 - Fanconi anemiaGrover C Bagby
OHSU Cancer Institute, Department of Medicine and Molecular and Medical Genetics, Oregon Health and Science University, Portland, OR 97239, USA
Semin Hematol 43:147-56. 2006.... - Experiences of siblings of patients with Fanconi anemiaSadie P Hutson
Department of Family Community Nursing, College of Nursing, East Tennessee State University, Tennessee, USA
Pediatr Blood Cancer 48:72-9. 2007..The purpose of this study was to explore the experiences of healthy siblings of patients with a chronic genetic disease, Fanconi Anemia (FA)... - Current diagnosis of inherited bone marrow failure syndromesHannah Tamary
Department of Pediatric Hematology Oncology, Schneider Children s Medical Center of Israel, Petach Tikva, Israel
Pediatr Hematol Oncol 24:87-99. 2007..Heterozygote ELA2 mutations are found in 60-80% of severe congenital neutropenia patients. All patients with congenital amegakaryocytic thrombocytopenia have mutations in the thrombopoietin receptor gene c-Mpl... - Splenic peliosis and rupture in patients with dyskeratosis congenita on androgens and granulocyte colony-stimulating factorNeelam Giri
Br J Haematol 138:815-7. 2007 - p53 protein overexpression in bone marrow biopsies of patients with Shwachman-Diamond syndrome has a prevalence similar to that of patients with refractory anemiaM Tarek Elghetany
Department of Pathology, University of Texas Medical Branch, Galveston, TX 77555 0743, USA
Arch Pathol Lab Med 126:452-5. 2002..This similarity was further investigated for p53 protein overexpression using archived tissue from patients with hematologic diseases having various leukemic propensities, including SDS and refractory anemia...