P Bolufer

Summary

Country: Spain

Publications

  1. doi request reprint High-resolution melting analysis for rapid screening of BRCA1 and BRCA2 Spanish mutations
    Inmaculada de Juan
    Laboratory of Molecular Biology, University Hospital La Fe, Avd Campanar 21, Valencia 46009, Spain
    Breast Cancer Res Treat 115:405-14. 2009
  2. ncbi request reprint [BRCA1 and BRCA2 mutations in patients with familial breast cancer]
    Pascual Bolufer
    Laboratorio de Biologia Molecular, Departamento de Biopatología Médica, Escuela de Enfermeria, Hospital Universitario La Fe, Valencia, Spain
    Med Clin (Barc) 124:10-2. 2005
  3. ncbi request reprint Profile of polymorphisms of drug-metabolising enzymes and the risk of therapy-related leukaemia
    Pascual Bolufer
    Laboratory of Molecular Biology Medical Biopathology, Hospital Universitario La Fe, Valencia, Spain
    Br J Haematol 136:590-6. 2007
  4. ncbi request reprint Quantitative assessment of PML-RARa and BCR-ABL by two real-time PCR instruments: multiinstitutional laboratory trial
    Pascual Bolufer
    Molecular Biology, Department of Medical Biopathology, Hospital Universitario La Fe, Avda Campanar 21, 46009 Valencia, Spain
    Clin Chem 50:1088-92. 2004
  5. ncbi request reprint The potential effect of gender in combination with common genetic polymorphisms of drug-metabolizing enzymes on the risk of developing acute leukemia
    Pascual Bolufer
    Laboratory of Molecular Biology, Department of Medical Biopathology, Hospital Universitario La Fe, Valencia, Spain
    Haematologica 92:308-14. 2007
  6. ncbi request reprint Influence of genetic polymorphisms on the risk of developing leukemia and on disease progression
    Pascual Bolufer
    Laboratory of Molecular Biology, Department of Medical Biopathology, Hospital Universitario La Fe, Valencia, Spain
    Leuk Res 30:1471-91. 2006
  7. ncbi request reprint Rapid quantitative detection of TEL-AML1 fusion transcripts in pediatric acute lymphoblastic leukemia by real-time reverse transcription polymerase chain reaction using fluorescently labeled probes
    Pascual Bolufer
    Laboratorio de Biologia Molecular, Lab Hormonas, C Maternal Hospital Universitario La Fe, Avda Campanar 21, 46009 Valencia, Spain
    Haematologica 87:23-32. 2002
  8. ncbi request reprint Variability in the levels of PML-RAR alpha fusion transcripts detected by the laboratories participating in an external quality control program using several reverse transcription polymerase chain reaction protocols
    P Bolufer
    Laboratory of Molecular Biology, Department of Clinical Pathology, Hospital Universitario La Fe, Valencia, Spain
    Haematologica 86:570-6. 2001
  9. ncbi request reprint Rapid quantitative detection of BCR-ABL transcripts in chronic myeloid leukemia patients by real-time reverse transcriptase polymerase-chain reaction using fluorescently labeled probes
    P Bolufer
    Department of Clinical Pathology, Hospital Universitario La Fe, Valencia, Spain
    Haematologica 85:1248-54. 2000
  10. ncbi request reprint Unrelated donor cord blood transplantation in adults with chronic myelogenous leukemia: results in nine patients from a single institution
    G F Sanz
    Bone Marrow Transplantation Unit, Department of Hematology, Hospital Universitario La Fe, Av. Campanar 21, 46009 Valencia, Spain
    Bone Marrow Transplant 27:693-701. 2001

Collaborators

Detail Information

Publications36

  1. doi request reprint High-resolution melting analysis for rapid screening of BRCA1 and BRCA2 Spanish mutations
    Inmaculada de Juan
    Laboratory of Molecular Biology, University Hospital La Fe, Avd Campanar 21, Valencia 46009, Spain
    Breast Cancer Res Treat 115:405-14. 2009
    ..In sporadic BC 11 polymorphisms and three unclassified variants were found in both genes. HRM is a valuable method for rapid screening of BRCA1/2 Spanish mutations and is capable of differentiating new genetic variants in PCR products...
  2. ncbi request reprint [BRCA1 and BRCA2 mutations in patients with familial breast cancer]
    Pascual Bolufer
    Laboratorio de Biologia Molecular, Departamento de Biopatología Médica, Escuela de Enfermeria, Hospital Universitario La Fe, Valencia, Spain
    Med Clin (Barc) 124:10-2. 2005
    ..The present study reports the mutations found in 48 families of the Valencian Community studied in the University Hospital La Fe of Valencia (Spain)...
  3. ncbi request reprint Profile of polymorphisms of drug-metabolising enzymes and the risk of therapy-related leukaemia
    Pascual Bolufer
    Laboratory of Molecular Biology Medical Biopathology, Hospital Universitario La Fe, Valencia, Spain
    Br J Haematol 136:590-6. 2007
    ..42, 95% CI = 1.59-212.76, P = 0.02 respectively). Thus, the profiles of genetic polymorphisms of drug-metabolising enzymes might explain the increased risk to t-AML/t-MDS observed in some patients treated with polychemotherapy...
  4. ncbi request reprint Quantitative assessment of PML-RARa and BCR-ABL by two real-time PCR instruments: multiinstitutional laboratory trial
    Pascual Bolufer
    Molecular Biology, Department of Medical Biopathology, Hospital Universitario La Fe, Avda Campanar 21, 46009 Valencia, Spain
    Clin Chem 50:1088-92. 2004
  5. ncbi request reprint The potential effect of gender in combination with common genetic polymorphisms of drug-metabolizing enzymes on the risk of developing acute leukemia
    Pascual Bolufer
    Laboratory of Molecular Biology, Department of Medical Biopathology, Hospital Universitario La Fe, Valencia, Spain
    Haematologica 92:308-14. 2007
    ....
  6. ncbi request reprint Influence of genetic polymorphisms on the risk of developing leukemia and on disease progression
    Pascual Bolufer
    Laboratory of Molecular Biology, Department of Medical Biopathology, Hospital Universitario La Fe, Valencia, Spain
    Leuk Res 30:1471-91. 2006
    ..Recent studies have provided evidence that common genetic variations with low penetrance could account for a proportion of leukemia and could also influence disease outcome, although the results obtained are still controversial...
  7. ncbi request reprint Rapid quantitative detection of TEL-AML1 fusion transcripts in pediatric acute lymphoblastic leukemia by real-time reverse transcription polymerase chain reaction using fluorescently labeled probes
    Pascual Bolufer
    Laboratorio de Biologia Molecular, Lab Hormonas, C Maternal Hospital Universitario La Fe, Avda Campanar 21, 46009 Valencia, Spain
    Haematologica 87:23-32. 2002
    ..The method is based on hybridization probe (HybProbe) chemistry applied in LightCycler equipment. The study group comprised 44 successive cases of pediatric acute lymphoblastic leukemia (P-ALL)...
  8. ncbi request reprint Variability in the levels of PML-RAR alpha fusion transcripts detected by the laboratories participating in an external quality control program using several reverse transcription polymerase chain reaction protocols
    P Bolufer
    Laboratory of Molecular Biology, Department of Clinical Pathology, Hospital Universitario La Fe, Valencia, Spain
    Haematologica 86:570-6. 2001
    ..In the light of this, the Spanish group has recently designed an external quality assessment program (EQAP) of RT-PCR detection of PML-RAR, which includes a study of sensitivity of the participating laboratories...
  9. ncbi request reprint Rapid quantitative detection of BCR-ABL transcripts in chronic myeloid leukemia patients by real-time reverse transcriptase polymerase-chain reaction using fluorescently labeled probes
    P Bolufer
    Department of Clinical Pathology, Hospital Universitario La Fe, Valencia, Spain
    Haematologica 85:1248-54. 2000
    ..We have developed a quantitative real-time PCR (QC-PCR) method in the LightCycler, based on the use of fluorescently labeled probes (HybProbes), to estimate BCR-ABL fusion gene transcripts in samples from CML patients...
  10. ncbi request reprint Unrelated donor cord blood transplantation in adults with chronic myelogenous leukemia: results in nine patients from a single institution
    G F Sanz
    Bone Marrow Transplantation Unit, Department of Hematology, Hospital Universitario La Fe, Av. Campanar 21, 46009 Valencia, Spain
    Bone Marrow Transplant 27:693-701. 2001
    ..These preliminary results suggest that UD-CBT may be considered a reasonable alternative in adults with CML who lack an appropriate bone marrow donor...
  11. ncbi request reprint A modified AIDA protocol with anthracycline-based consolidation results in high antileukemic efficacy and reduced toxicity in newly diagnosed PML/RARalpha-positive acute promyelocytic leukemia. PETHEMA group
    M A Sanz
    Servicio de Hematologia, Hospital Universitario La Fe, Valencia, Spain
    Blood 94:3015-21. 1999
    ..These results also suggest a minor role for cytarabine and etoposide in the treatment of newly diagnosed PML/RARalpha-positive APL patients...
  12. ncbi request reprint Quantitative detection of AML1-ETO rearrangement by real-time RT-PCR using fluorescently labeled probes
    E Barragan
    Department of Clinical Pathology, Hospital Universitario La Fe Valencia, Spain
    Leuk Lymphoma 42:747-56. 2001
    ..Moreover, the fluorescent probes with the Light-Cycler technology offer the advantage of a rapid detection...
  13. ncbi request reprint [Monitoring of minimal residual disease with the combined detection of PML/RAR alpha and RAR alpha/PML rearrangements in acute promyelocytic leukemia]
    P Bolufer
    Departamento de Biopatología Clínica, Hospital Universitario La Fe, Valencia
    Med Clin (Barc) 114:281-5. 2000
    ..This prompted us to perform both assays in parallel to monitor a group of APL...
  14. ncbi request reprint Standardized, unrelated donor cord blood transplantation in adults with hematologic malignancies
    G F Sanz
    Bone Marrow Transplantation Unit, Department of Hematology, and Laboratory of Molecular Biology, Department of Clinical Pathology, Hospital Universitario La Fe, Spain
    Blood 98:2332-8. 2001
    ..These preliminary results suggest that UD-CBT should be considered a reasonable alternative in young adults with hematologic malignancy and no appropriate bone marrow donor...
  15. ncbi request reprint Role of MTHFR (677, 1298) haplotype in the risk of developing secondary leukemia after treatment of breast cancer and hematological malignancies
    V M Guillem
    Servicio de Hematologia y Oncologia, Hospital Clinico Universitario de Valencia, Universidad de Valencia, Valencia, Spain
    Leukemia 21:1413-22. 2007
    ..We postulate that such differences are related to variations in chemotherapy schemes between hematological and breast cancers and their differential interaction with the MTHFR route...
  16. ncbi request reprint Rapid detection of the major Mediterranean beta-thalassaemia mutations by real-time polymerase chain reaction using fluorophore-labelled hybridization probes
    Isabel Moreno
    Laboratorio de Biologia Molecular, Dpto Biopatología Clínica, Hospital Universitario La Fe, Valencia, Spain
    Br J Haematol 119:554-7. 2002
    ..The established method is a robust, fast and straightforward assay that allows detection of the major Mediterranean beta-thalassaemia mutations simultaneously in less than 60 min...
  17. ncbi request reprint Definition of relapse risk and role of nonanthracycline drugs for consolidation in patients with acute promyelocytic leukemia: a joint study of the PETHEMA and GIMEMA cooperative groups
    M A Sanz
    Hospital Universitario La Fe, Valencia, Spain
    Blood 96:1247-53. 2000
    ..Blood. 2000;96:1247-1253)..
  18. doi request reprint Wnt signaling pathway is epigenetically regulated by methylation of Wnt antagonists in acute myeloid leukemia
    A Valencia
    Department of Hematology, Hospital Universitario La Fe, Valencia, Spain
    Leukemia 23:1658-66. 2009
    ..03). Our results indicate a function of the epigenetic regulation of the Wnt pathway in predicting relapse in a subgroup of AML patients...
  19. ncbi request reprint A t(17;20)(q21;q12) masking a variant t(15;17)(q22;q21) in a patient with acute promyelocytic leukemia
    Zaida Garcia-Casado
    Department of Hematology, Hospital Universitario La Fe, Avenida Campanar, 21, 46009 Valencia, Spain
    Cancer Genet Cytogenet 168:73-6. 2006
    ....
  20. ncbi request reprint Molecular detection of Spanish deltabeta-thalassemia associated with beta-thalassemia identified during prenatal diagnosis
    Eva Barragan
    Molecular Biology Laboratory, Department of Medical Biopathology Hospital Universitario La Fe, Valencia, Spain
    Clin Chim Acta 368:195-8. 2006
    ..The deltabeta-thalassemias are a rare group of disorders, however in Spain the Spanish deltabeta0 thalassemia that removes 114 kb of beta-globin cluster is quite frequent...
  21. ncbi request reprint Prognostic implications of Wilms' tumor gene (WT1) expression in patients with de novo acute myeloid leukemia
    Eva Barragan
    Molecular Biology Laboratory, Dept Medical Biopathology, Hematology Service of Hospital Universitario La Fe Hematology Services of Hospital General Universitario Alicante, Spain
    Haematologica 89:926-33. 2004
    ..However, the biological significance and the prognostic impact of WT1 overexpression in acute myeloid leukemia (AML) is still uncertain...
  22. ncbi request reprint Rheological behaviour of red blood cells in beta and deltabeta thalassemia trait
    Amparo Vaya
    Department of Clinical Pathology, La Fe University Hospital, Valencia, Spain
    Clin Hemorheol Microcirc 28:71-8. 2003
    ..The less altered deformability found in deltabeta carriers, is in agreement with the fact that it deals with a more benign trait...
  23. doi request reprint Minimal residual disease detection in acute myeloid leukemia by mutant nucleophosmin (NPM1): comparison with WT1 gene expression
    Eva Barragan
    Department of Medical Pathology, Hospital Universitario La Fe Valencia, Spain
    Clin Chim Acta 395:120-3. 2008
    ..Moreover, we compare the NPM1 results with those of WT1 expression to MRD assessment...
  24. ncbi request reprint The GST deletions and NQO1*2 polymorphism confers interindividual variability of response to treatment in patients with acute myeloid leukemia
    Eva Barragan
    Molecular Biology Laboratory, Dpt Medical Pathology, Spain
    Leuk Res 31:947-53. 2007
    ..05). This study suggests that the NQO1*2 polymorphism is relevant to the patient's response to induction therapy and that GST deletions influence treatment outcome after chemotherapy, especially in male patients...
  25. ncbi request reprint Risk-adapted treatment of acute promyelocytic leukemia with all-trans-retinoic acid and anthracycline monochemotherapy: a multicenter study by the PETHEMA group
    Miguel A Sanz
    Servicio de Hematologia, Hospital Universitario La Fe, Avenida Campanar 21, 46009 Valencia, Spain
    Blood 103:1237-43. 2004
    ..A risk-adapted strategy combining anthracycline monochemotherapy and ATRA for induction and consolidation therapy of newly diagnosed APL results in improved antileukemic efficacy and a high degree of compliance...
  26. doi request reprint Risk-adapted treatment of acute promyelocytic leukemia with all-trans retinoic acid and anthracycline monochemotherapy: long-term outcome of the LPA 99 multicenter study by the PETHEMA Group
    Miguel A Sanz
    Hospital Universitario La Fe, Valencia, Spain
    Blood 112:3130-4. 2008
    ..04, respectively). This updated analysis confirms the high antileukemic efficacy, low toxicity, and high degree of compliance of a risk-adapted strategy combining ATRA and anthracycline monochemotherapy for consolidation therapy...
  27. ncbi request reprint Treatment with all-trans retinoic acid and anthracycline monochemotherapy for children with acute promyelocytic leukemia: a multicenter study by the PETHEMA Group
    Juan J Ortega
    Servicio de Hematologia, Hospital Universitario La Fe, Avenida Campanar 21, 46009 Valencia, Spain
    J Clin Oncol 23:7632-40. 2005
    ..To analyze the simultaneous combination of all-trans retinoic acid (ATRA) and anthracycline monochemotherapy for children with acute promyelocytic leukemia (APL)...
  28. ncbi request reprint Identification of two atypical PML-RAR(alpha) transcripts in two patients with acute promyelocytic leukemia
    Eva Barragan
    Laboratory of Molecular Biology, Department of Clinical Pathology, Centro Maternal, Hospital Universitario La Fe, Avda Campanar 21, 46009 Valencia, Spain
    Leuk Res 26:439-42. 2002
    ....
  29. ncbi request reprint Locked nucleic acid-enhanced detection of 1100delC*CHEK2 germ-line mutation in Spanish patients with hematologic malignancies
    Maria Collado
    Laboratory of Molecular Biology, Department of Medical Biopathology, Clinical Hematology, Service of Hematology, Hospital Universitario La Fe, Valencia, Spain
    Clin Chem 50:2201-4. 2004
  30. ncbi request reprint Incidence and prognostic value of FLT3 internal tandem duplication and D835 mutations in acute myeloid leukemia
    Isabel Moreno
    Molecular Biology Laboratory Dept Medical Pathology, Hospital Universitario La Fe, Valencia, Spain
    Haematologica 88:19-24. 2003
    ..Recently, internal tandem duplications (ITD) and D835 mutations in FLT3 tyrosine kinase receptor have been shown to confer a bad prognosis in AML...
  31. ncbi request reprint Immunofluorescent analysis with the anti-PML monoclonal antibody PG-M3 for rapid and accurate genetic diagnosis of acute promyelocytic leukemia
    Federico Gomis
    Servicio de Hematologia, Hospital Universitario La Fe, Av Campanar 21, 46009, Valencia, Spain
    Ann Hematol 83:687-90. 2004
    ..In addition, it is technically simple, fast, and cheap, only requiring small tissue samples and non-sophisticated equipment...
  32. ncbi request reprint MLL amplification in acute myeloid leukemia
    Juan C Pajuelo-Gámez
    Servicio de Hematologia, Hospital Universitario La Fe, Avenida Campanar 21, Valencia 46009, Spain
    Cancer Genet Cytogenet 174:127-31. 2007
    ..Our data suggest that molecular methods such as RT-PCR or sequencing should be used to detect MLL alterations, and that amplification of MLL locus may be extended to its flanking region...
  33. ncbi request reprint A new reliable fluorescence in situ hybridization method for identifying multiple specific cytogenetic abnormalities in acute myeloid leukemia
    Ana Valencia
    Department of Hematology, Hospital Universitario La Fe, 46009 Valencia, Spain
    Leuk Lymphoma 51:680-5. 2010
    ..It is also capable of reallocating cases without metaphases or with non-evaluable chromosomes in the appropriate cytogenetic risk group...
  34. pmc Rapid detection of KIT mutations in core-binding factor acute myeloid leukemia using high-resolution melting analysis
    Oscar Fuster
    Laboratory of Molecular Biology, Department of Medical Pathology, Escuela de enfermería 7 planta Hospital Universitario La Fe, Avd Campanar 21, Valencia 46009, Spain
    J Mol Diagn 11:458-63. 2009
    ..These findings verify that HRM is a reliable, rapid, and sensitive method for KIT mutation screening. Furthermore, our study corroborates the unfavorable prognosis associated with exon 17 KIT mutations...
  35. ncbi request reprint Lack of association of CYP3A4-V polymorphism with the risk of treatment-related leukemia
    Maria Collado
    Leuk Res 29:595-7. 2005
  36. ncbi request reprint The t(4;22)(q12;q11) in atypical chronic myeloid leukaemia fuses BCR to PDGFRA
    E Joanna Baxter
    Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury SP2 8BJ, UK
    Hum Mol Genet 11:1391-7. 2002
    ..Our findings indicate that apparently simple cytogenetic variants of t(9;22) do not always mask a cryptic BCR-ABL fusion, even when found in association with clinical and haematological indications of CML...