Marc de Braekeleer

Summary

Country: France

Publications

  1. ncbi request reprint Translocation (12;21) followed by insertion of chromosome 3 material in the derivative chromosome 12 in a case of childhood acute lymphoblastic leukemia
    Nathalie Douet-Guilbert
    Service d Hematologie Clinique, Institut d Hématologie et de Cancérologie, CHU Morvan, Brest, France
    Cancer Genet Cytogenet 142:120-3. 2003
  2. ncbi request reprint A fluorescence in situ hybridization study of TEL-AML1 fusion gene in B-cell acute lymphoblastic leukemia (1984-2001)
    Nathalie Douet-Guilbert
    Service d Hematologie Clinique, Institut d Hématologie et de Cancérologie, CHU Morvan, Brest, France
    Cancer Genet Cytogenet 144:143-7. 2003
  3. ncbi request reprint t(4;11)(q21;p15), including one complex translocation t(1;4;11)(p32;q21;p15), in adult T-cell acute lymphoblastic leukemia
    Nathalie Douet-Guilbert
    Service d Hematologie Clinique, Institut d Hématologie et de Cancérologie, CHU Morvan, Brest, France
    Leuk Res 27:965-7. 2003
  4. ncbi request reprint Double Inv(3)(q21q26), a rare but recurrent chromosomal abnormality in myeloid hemopathies
    Etienne De Braekeleer
    Laboratoire de Cytogenetique, Hopital Morvan, bâtiment 5bis, CHRU Brest, 2, avenue Foch, F 29609 Brest Cedex, France
    Anticancer Res 33:639-42. 2013
  5. ncbi request reprint Gene expression profiling of adult t(4;11)(q21;q23)-associated acute lymphoblastic leukemia reveals a different signature from pediatric cases
    Etienne De Braekeleer
    Faculty of Medicine and Health Sciences, Laboratory of Histology, University of Brest, Brest, France
    Anticancer Res 32:3893-9. 2012
  6. doi request reprint Complex and cryptic chromosomal rearrangements involving the MLL gene in acute leukemia: a study of 7 patients and review of the literature
    Etienne De Braekeleer
    Universite de Brest, Faculte de Medecine et des Sciences de la Sante, Brest, France
    Blood Cells Mol Dis 44:268-74. 2010
  7. ncbi request reprint The MLL gene and translocations involving chromosomal band 11q23 in acute leukemia
    Marc de Braekeleer
    Laboratoire d Histologie, Embryologie et Cytogenetique, Faculte de Medecine et des Sciences de la Sante, Universite de Bretagne Occidentale, Brest, France
    Anticancer Res 25:1931-44. 2005
  8. ncbi request reprint Interphase FISH does not improve the detection of DEL(5q) and DEL(20q) in myelodysplastic syndromes
    Nathalie Douet-Guilbert
    Laboratoire de Cytogenetique, Faculte de Medecine et des Sciences de la Sante, Universite de Bretagne Occidentale, 22, avenue Camille Desmoulins, CS 93837, F 29238 Brest cedex 3, France
    Anticancer Res 31:1007-10. 2011
  9. ncbi request reprint Reproductive attitudes of couples having a child with cystic fibrosis in Brittany (France)
    Marc de Braekeleer
    Laboratoire d Histologie, Embryologie et Cytogenetique, Faculté de Médecine et des Sciences de la Santé and Service de Cytogénétique, Cytologie et Biologie de la Reproduction, CHU Morvan, Brest, France
    J Hum Genet 49:285-9. 2004
  10. doi request reprint RUNX1 translocations and fusion genes in malignant hemopathies
    Etienne De Braekeleer
    Institut National de la Santé and de la Recherche Médicale U613, Brest, France
    Future Oncol 7:77-91. 2011

Collaborators

Detail Information

Publications74

  1. ncbi request reprint Translocation (12;21) followed by insertion of chromosome 3 material in the derivative chromosome 12 in a case of childhood acute lymphoblastic leukemia
    Nathalie Douet-Guilbert
    Service d Hematologie Clinique, Institut d Hématologie et de Cancérologie, CHU Morvan, Brest, France
    Cancer Genet Cytogenet 142:120-3. 2003
    ..This is consistent with an insertion of chromosome 3 into chromosome 12 after the t(12;21) took place, therefore indicating a probable secondary event due to clonal evolution...
  2. ncbi request reprint A fluorescence in situ hybridization study of TEL-AML1 fusion gene in B-cell acute lymphoblastic leukemia (1984-2001)
    Nathalie Douet-Guilbert
    Service d Hematologie Clinique, Institut d Hématologie et de Cancérologie, CHU Morvan, Brest, France
    Cancer Genet Cytogenet 144:143-7. 2003
    ..Structural chromosomal abnormalities other than the t(12;21) are frequent and may play a role in the prognosis of these patients...
  3. ncbi request reprint t(4;11)(q21;p15), including one complex translocation t(1;4;11)(p32;q21;p15), in adult T-cell acute lymphoblastic leukemia
    Nathalie Douet-Guilbert
    Service d Hematologie Clinique, Institut d Hématologie et de Cancérologie, CHU Morvan, Brest, France
    Leuk Res 27:965-7. 2003
    ..Although recurrent in T-cell ALL, its frequency appears to be very low; indeed, it has been identified in only 4 of 193 adults and in 1 of 734 children with T-cell ALL thus far reported in the literature...
  4. ncbi request reprint Double Inv(3)(q21q26), a rare but recurrent chromosomal abnormality in myeloid hemopathies
    Etienne De Braekeleer
    Laboratoire de Cytogenetique, Hopital Morvan, bâtiment 5bis, CHRU Brest, 2, avenue Foch, F 29609 Brest Cedex, France
    Anticancer Res 33:639-42. 2013
    ....
  5. ncbi request reprint Gene expression profiling of adult t(4;11)(q21;q23)-associated acute lymphoblastic leukemia reveals a different signature from pediatric cases
    Etienne De Braekeleer
    Faculty of Medicine and Health Sciences, Laboratory of Histology, University of Brest, Brest, France
    Anticancer Res 32:3893-9. 2012
    ..Therefore, t(4;11)-associated ALL could represent different biological entities...
  6. doi request reprint Complex and cryptic chromosomal rearrangements involving the MLL gene in acute leukemia: a study of 7 patients and review of the literature
    Etienne De Braekeleer
    Universite de Brest, Faculte de Medecine et des Sciences de la Sante, Brest, France
    Blood Cells Mol Dis 44:268-74. 2010
    ..Should an abnormality be discovered, the analysis has to be completed by further molecular cytogenetic and genomic PCR methods in order to unravel the recombination mechanism...
  7. ncbi request reprint The MLL gene and translocations involving chromosomal band 11q23 in acute leukemia
    Marc de Braekeleer
    Laboratoire d Histologie, Embryologie et Cytogenetique, Faculte de Medecine et des Sciences de la Sante, Universite de Bretagne Occidentale, Brest, France
    Anticancer Res 25:1931-44. 2005
    ..The accumulating data suggests that the fusion protein affects the differentiation of the hematopoietic pluripotent stem cells or the lymphoid or myeloid committed stem cells by deregulating the HOX gene expression patterns...
  8. ncbi request reprint Interphase FISH does not improve the detection of DEL(5q) and DEL(20q) in myelodysplastic syndromes
    Nathalie Douet-Guilbert
    Laboratoire de Cytogenetique, Faculte de Medecine et des Sciences de la Sante, Universite de Bretagne Occidentale, 22, avenue Camille Desmoulins, CS 93837, F 29238 Brest cedex 3, France
    Anticancer Res 31:1007-10. 2011
    ..However, interphase FISH is recommended in patients with no cell growth or when fewer than 20 metaphases are available for CC analysis...
  9. ncbi request reprint Reproductive attitudes of couples having a child with cystic fibrosis in Brittany (France)
    Marc de Braekeleer
    Laboratoire d Histologie, Embryologie et Cytogenetique, Faculté de Médecine et des Sciences de la Santé and Service de Cytogénétique, Cytologie et Biologie de la Reproduction, CHU Morvan, Brest, France
    J Hum Genet 49:285-9. 2004
    ..Our results are quite different from those previously published. Although results could be population-specific, one cannot exclude the fact that they reflect a change of attitudes among parents, the other studies being much older...
  10. doi request reprint RUNX1 translocations and fusion genes in malignant hemopathies
    Etienne De Braekeleer
    Institut National de la Santé and de la Recherche Médicale U613, Brest, France
    Future Oncol 7:77-91. 2011
    ..All the translocations that retain Runt homology domains but remove the transcription activation domain have a leukemogenic effect by acting as dominant negative inhibitors of wild-type RUNX1 in transcription activation...
  11. ncbi request reprint Chromosome 1 abnormalities in multiple myeloma
    Youna Marzin
    Laboratoire d Histologie, Embryologie et Cytogenetique, Faculte de Medecine et des Sciences de la Sante, Universite de Bretagne Occidentale, Brest, France
    Anticancer Res 26:953-9. 2006
    ..In conclusion, our results confirm that chromosome 1 abnormalities play an important role in the pathogenesis of multiple myeloma...
  12. doi request reprint Three rearrangements of chromosome 5 in a patient with myelodysplastic syndrome: an atypical deletion 5q, a complex intrachromosomal rearrangement of chromosome 5, and a paracentric inversion of chromosome 5
    Nathalie Douet-Guilbert
    Laboratoire d Histologie, Embryologie et Cytogenetique, Faculte de Medecine et des Sciences de la Sante, Universite de Bretagne Occidentale, Brest, France
    Cancer Genet Cytogenet 203:303-8. 2010
    ..We also assessed the clinical, biological, and cytogenetic evolution under lenalidomide treatment and after its interruption...
  13. ncbi request reprint Screening by fluorescence in situ hybridization for MLL status at diagnosis in 239 unselected patients with acute myeloblastic leukemia
    Bertrand Arnaud
    Laboratoire d Histologie, Embryologie et Cytogenetique, Faculte de Medecine et des Sciences de la Sante, Universite de Bretagne Occidentale, 22, avenue Camille Desmoulins, CS 93837, F 29238 Brest cedex 3, France
    Cancer Genet Cytogenet 161:110-5. 2005
    ....
  14. ncbi request reprint Rearrangement of the MLL gene in acute myeloblastic leukemia: report of two rare translocations
    Nathalie Douet-Guilbert
    Laboratoire d Histologie, Embryologie et Cytogenetique, Faculte de Medecine et des Sciences de la Sante, Université de Bretagne Occidentale 22, avenue Camille Desmoulins CS 93837, F 29238, Brest Cedex 3, France
    Cancer Genet Cytogenet 157:169-74. 2005
    ..Although both translocations are preferentially associated with monocytic differentiation, the t(11;17)(q23;q21) is more common in adults and has been reported in many patients with ALL, compared to the t(1;11)(p32;q23)...
  15. doi request reprint Chromosome 20 deletions in myelodysplastic syndromes and Philadelphia-chromosome-negative myeloproliferative disorders: characterization by molecular cytogenetics of commonly deleted and retained regions
    Nathalie Douet-Guilbert
    Laboratoire d Histologie, Embryologie et Cytogenetique, Faculte de Medecine et des Sciences de la Sante, Universite de Bretagne Occidentale, Brest, France
    Ann Hematol 87:537-44. 2008
    ..Loss of genes plays an important part in the myeloid leukemic process associated with del(20q). However, genes located in the retained chromosomal regions may also play a role in the oncogenetic mechanisms...
  16. doi request reprint Characterization and meiotic segregation of a supernumerary marker chromosome in sperm of infertile males: case report and literature review
    Aurore Perrin
    Laboratoire d Histologie, Embryologie et Cytogenetique, INSERM U1078, Faculte de Medecine et des Sciences de la Sante, Universite de Bretagne Occidentale, Brest, France
    Eur J Med Genet 55:743-6. 2012
    ..6%. Due to the low risk of fetal chromosomal imbalance linked to the paternal SMC and the risk of miscarriage linked to the amniocentesis, the couple declined prenatal diagnosis. A healthy newborn baby was obtained after ICSI...
  17. ncbi request reprint Conventional cytogenetics and breakpoint distribution by fluorescent in situ hybridization in patients with malignant hemopathies associated with inv(3)(q21;q26) and t(3;3)(q21;q26)
    Etienne De Braekeleer
    University of Brest, Faculty of Medicine and Health Sciences, Brest, France
    Anticancer Res 31:3441-8. 2011
    ..Therefore, it is important to further characterize these chromosomal abnormalities by FISH...
  18. ncbi request reprint Philadelphia chromosome-positive acute lymphoblastic leukemia: a cytogenetic study of 33 patients diagnosed between 1981 and 2008
    Etienne De Braekeleer
    Universite de Brest, Brest, France
    Anticancer Res 30:569-73. 2010
    ..Main of study: To analyze the distribution of Ph chromosome-positive ALL patients...
  19. ncbi request reprint Evaluation of chromosome 5 aberrations in complex karyotypes of patients with myeloid disorders reveals their contribution to dicentric and tricentric chromosomes, resulting in the loss of critical 5q regions
    Angèle Herry
    Laboratory of Histology, Embryology, and Cytogenetics, Faculty of Medicine and Health Sciences, Universite de Bretagne Occidentale, 22, avenue Camille Desmoulins, CS 93837, F 29238 Brest cedex 3, France
    Cancer Genet Cytogenet 175:125-31. 2007
    ..Dicentric and tricentric chromosomes involving chromosome 5 are frequently observed in complex karyotypes among patients with de novo or therapy-related MDS/AML. They lead to deletions of various parts of the long arm of chromosome 5...
  20. doi request reprint RUNX1-MTG16 fusion gene in acute myeloblastic leukemia with t(16;21)(q24;q22): case report and review of the literature
    Etienne De Braekeleer
    Laboratoire d Histologie, Embryologie et Cytogenetique, Faculte de Medecine et des Sciences de la Sante, Universite de Bretagne Occidentale, F 29238 Brest, Cedex 3, France
    Cancer Genet Cytogenet 185:47-50. 2008
    ..The significant homology between MGT16 and MTG8 suggests that the RUNX1-MTG16 fusion gene induced by the t(16;21)(q24;q22) is a variant of the RUNX1-MTG8 that shares similar activity...
  21. doi request reprint Cytogenetics in pre-B and B-cell acute lymphoblastic leukemia: a study of 208 patients diagnosed between 1981 and 2008
    Etienne De Braekeleer
    University of Western Brittany, Brest, France
    Cancer Genet Cytogenet 200:8-15. 2010
    ..The use of array comparative genomic hybridization (aCGH) offers an alternative for identifying copy number alterations, but cannot detect balanced chromosomal rearrangements...
  22. ncbi request reprint Prenatal diagnosis of mosaic tetrasomy 8p
    Marie Josée LE Bris
    Service de Cytogénétique, Cytologie et Biologie de la Reproduction, CHU Morvan, Universite de Bretagne Occidentale, 22 avenue Camille Desmoulins, F 29285 Brest Cedex, France
    Am J Med Genet A 120:44-8. 2003
    ....
  23. ncbi request reprint Cytogenetic studies in T-cell acute lymphoblastic leukemia (1981-2002)
    Nathalie Douet-Guilbert
    Service de Cytogénétique, Cytologie et Biologie de la Reproduction, CHU Morvan, Brest
    Leuk Lymphoma 45:287-90. 2004
    ..Most of the recurrent abnormalities are different from those of B-lineage ALL. Some are known to involve TCR genes whereas others can lead to the discovery of new genes that are important to T-lineage leukemogenesis...
  24. doi request reprint Identification of MLL partner genes in 27 patients with acute leukemia from a single cytogenetic laboratory
    Etienne De Braekeleer
    Universite de Brest, Faculte de Medecine et des Sciences de la Sante, Brest, France
    Mol Oncol 5:555-63. 2011
    ..Then, the analysis has to be completed, if necessary, by further molecular cytogenetic and genomic PCR methods...
  25. doi request reprint Difficult diagnosis and management of an heterokaryotypic monochorionic twin pregnancy with discordant fetal sex and 45,X/47,XYY karyotypes
    Caroline Bohec
    Department of Gynecology, Obstetrics and Reproductive Medicine, Centre Hospitalier Universitaire Brest, Brest, France
    Fetal Pediatr Pathol 29:424-30. 2010
    ..Monozygotic twins with discordant sex are very rare. This study showed the difficult diagnosis and management of a monochorionic twin pregnancy with discordant fetal sex...
  26. doi request reprint Isochromosome 5p and related anomalies: a novel recurrent chromosome abnormality in myeloid disorders
    Angèle Herry
    Laboratory of Histology, Embryology, and Cytogenetics, Faculty of Medicine and Health Sciences, Universite de Bretagne Occidentale, 22 avenue Camille Desmoulins, Brest cedex 3l, France
    Cancer Genet Cytogenet 200:134-9. 2010
    ..The biological and clinical significance cannot yet be assessed, not only because too few cases have been described but also because these abnormalities are usually part of a complex karyotype...
  27. ncbi request reprint X chromosome insertion in the MLL gene in a case of childhood acute myeloblastic leukemia
    Bertrand Arnaud
    Service de Cytogénétique, Cytologie et Biologie de la Reproduction, CHU Morvan, Brest, France
    Cancer Genet Cytogenet 152:149-52. 2004
    ..We postulate that this chromosomal rearrangement led to the fusion of the 5' region of the MLL gene with a yet unidentified gene located in band Xq28...
  28. ncbi request reprint Rearrangement of MLL in a patient with congenital acute monoblastic leukemia and granulocytic sarcoma associated with a t(1;11)(p36;q23) translocation
    Nathalie Douet-Guilbert
    Laboratoire d Histologie, Embryologie et Cytogenetique, Faculte de Medecine et des Sciences de la Sante, Universite de Bretagne Occidentale, Brest, France
    Leuk Lymphoma 46:143-6. 2005
    ..To the best of our knowledge, this is the first report of a case of congenital AML with GS arising in a patient with proven MLL rearrangement...
  29. ncbi request reprint Genotype-phenotype relationship for five CFTR mutations frequently identified in western France
    Ingrid Duguépéroux
    Laboratoire d Histologie, Embryologie et Cytogenetique, Faculte de Medecine et des Sciences de la Sante, Universite de Bretagne Occidentale, Brest, France
    J Cyst Fibros 3:259-63. 2004
    ..The distribution of the mutations ranges widely between countries and/or ethnic groups. Multicentric studies are usually needed to study the genotype-phenotype correlations...
  30. ncbi request reprint Cryptic 5' MLL gene insertion in an X-chromosome in acute myeloblastic leukemia
    Nathalie Douet-Guilbert
    Service de Cytogénétique, Cytologie et Biologie de la Reproduction, CHU Morvan, Brest, France
    Cancer Genet Cytogenet 157:178-80. 2005
    ..The accumulating data on acute myeloblastic leukemia demonstrate that the 5'-MLL insertion in an X-chromosome is a rare but recurrent abnormality associated with leukemia, not only in infants, but also in adults...
  31. ncbi request reprint Characterization of IGH rearrangements in non-Hodgkin's B-cell lymphomas by fluorescence in situ hybridization
    Izabel Bernicot
    Laboratoire d Histologie, Embryologie et Cytogenetique, Faculte de Medecine et des Sciences de la Sante, Universite de Bretagne Occidentale, Brest, France
    Anticancer Res 25:3179-82. 2005
    ..Following banding techniques, FISH with the IGH dual color probe could be the first approach in NHL, after which chromosome painting and M-FISH could be used to identify the chromosomal partner involved in the IGH rearrangement...
  32. ncbi request reprint Interphase FISH for follow-up of Philadelphia chromosome-positive chronic myeloid leukemia treatment
    Nathalie Douet-Guilbert
    Laboratoire d Histologie, Embryologie et Cytogenetique, Faculte de Medecine et des Sciences de la Sante, Universite de Bretagne Occidentale, Brest, France
    Anticancer Res 24:2535-9. 2004
    ....
  33. ncbi request reprint Del(5q) and MLL amplification in homogeneously staining region in acute myeloblastic leukemia: a recurrent cytogenetic association
    Angèle Herry
    Laboratoire d Histologie, Embryologie et Cytogenetique, Faculte de Medecine et des Sciences de la Sante, Universite de Bretagne Occidentale, Brest, France
    Ann Hematol 85:244-9. 2006
    ..Therefore, the simultaneous presence of MLL amplification and del(5q) appears to be a nonrandom association that could be the signature of AML in elderly patients with a poor prognosis...
  34. ncbi request reprint Jumping translocations in multiple myeloma
    Déborah Jamet
    Laboratoire d Histologie, Embryologie et Cytogenetique, Faculte de Medecine et des Sciences de la Sante, Universite de Bretagne Occidentale, 22 avenue Camille Desmoulins, Brest cedex F 29285, France
    Cancer Genet Cytogenet 161:159-63. 2005
    ....
  35. ncbi request reprint Meiotic segregation of translocations during male gametogenesis
    Frederic Morel
    Laboratoire d Histologie, Embryologie et Cytogenetique, Faculte de Medecine et des Sciences de la Sante, Universite de Bretagne Occidentale, CHU Morvan, Brest, France
    Int J Androl 27:200-12. 2004
    ....
  36. ncbi request reprint Comparison of the CFTR mutation spectrum in three cohorts of patients of Celtic origin from Brittany (France) and Ireland
    Virginie Scotet
    INSERM EMI 01 15, Laboratoire de Genetique Moleculaire, Brest, France
    Hum Mutat 22:105. 2003
    ..The molecular study of the CFTR gene provides new tools for retracing European populations' histories...
  37. ncbi request reprint Insertion of chromosome 11 in chromosome 4 resulting in a 5'MLL-3'AF4 fusion gene in a case of adult acute lymphoblastic leukemia
    Frederic Morel
    Service de Cytogénétique, Cytologie et Biologie de la Reproduction, CHU Morvan, Brest, France
    Cancer Genet Cytogenet 145:74-7. 2003
    ..Our findings stress the value of combining banding cytogenetics with FISH and molecular techniques to better assess rearrangements in leukemia...
  38. doi request reprint Familial interstitial deletion of the short arm of chromosome 4 (p15.33-p16.3) characterized by molecular cytogenetic analysis
    Audrey Basinko
    Service de Cytogénétique, Cytologie et Biologie de Reproduction, CHU Morvan, Brest, France
    Am J Med Genet A 146:899-903. 2008
    ..2-p15.32). Our observation confirms that the basic WHS phenotype maps distally to this region...
  39. ncbi request reprint Redefining monosomy 5 by molecular cytogenetics in 23 patients with MDS/AML
    Angèle Herry
    Laboratoire d Histologie, Embryologie et Cytogenetique, Faculte de Medecine et des Sciences de la Sante, Universite de Bretagne Occidentale, Brest, France
    Eur J Haematol 78:457-67. 2007
    ..Sequential fluorescent in situ hybridization studies with whole chromosome paints and region-specific probes, used as a complement to conventional cytogenetic analysis, allow a better interpretation of karyotypes in MDS/AML patients...
  40. ncbi request reprint Meiotic segregation of a t(7;8)(q11.21;cen) translocation in two carrier brothers
    Frederic Morel
    Laboratoire d Histologie, cytogénétique et embryologie, Faculté de Médecine et des Sciences de la Sante Université Bretagne Occidentale, Brest, France
    Fertil Steril 81:682-5. 2004
    ..To determine the meiotic segregation of a t(7;8)(q11.21;cen) translocation in two carrier brothers...
  41. ncbi request reprint Second-trimester prenatal screening for trisomy 21 using biochemical markers: a 7-year experience in one cytogenetic laboratory
    Hélène Marical
    Service de Cytogénétique, Cytologie et Biologie de la Reproduction, CHU Morvan, Brest, France
    Prenat Diagn 26:308-12. 2006
    ..Screening for trisomy 21 in the second trimester of pregnancy using biochemical markers is an established part of prenatal care in many developed countries...
  42. ncbi request reprint Differing mechanisms of meiotic segregation in spermatozoa from three carriers of a pericentric inversion of chromosome 8
    Emilie Caer
    Service de Cytogénétique, Cytologie et Biologie de la Reproduction, CHU Morvan, Brest, France
    Fertil Steril 89:1637-40. 2008
    ..To determine the meiotic segregation of a pericentric inversion of chromosome 8 in three carriers...
  43. doi request reprint ETV6 fusion genes in hematological malignancies: a review
    Etienne De Braekeleer
    Laboratoire d Histologie, Embryologie et Cytogenetique, Universite de Brest, Brest, France
    Leuk Res 36:945-61. 2012
    ..It is likely that ETV6 is frequently involved in leukemogenesis because of the large number of partners with which it can rearrange and the several pathogenic mechanisms by which it can lead to cell transformation...
  44. doi request reprint Subtelomeric monosomy 11q and trisomy 16q in siblings and an unrelated child: molecular characterization of two der(11)t(11;16)
    Audrey Basinko
    Laboratoire d Histologie, Cytologie et Cytogénétique, Faculte de Medecine et des Sciences de la Sante, Universite de Bretagne Occidentale, Brest, France
    Am J Med Genet A 155:2281-7. 2011
    ..Both sibs shared most of the features commonly observed in Jacobsen syndrome, but not the third patient. This confirmed that terminal 11q trisomy spanning 1 to 1.97-2.11 Mb is not associated with a typical Jacobsen syndrome...
  45. doi request reprint DNA fragmentation and meiotic segregation in sperm of carriers of a chromosomal structural abnormality
    Aurore Perrin
    Laboratoire d Histologie, Embryologie et Cytogenetique, Universite de Bretagne Occidentale, Faculte de Medecine et des Sciences de la Sante, Brest, France
    Fertil Steril 92:583-9. 2009
    ..To determine the meiotic segregation and DNA fragmentation in spermatozoa of carriers of a chromosomal structural abnormality...
  46. ncbi request reprint Deletion of the 5'ABL region in Philadelphia chromosome positive chronic myeloid leukemia: frequency, origin and prognosis
    Frederic Morel
    Laboratoire d Histologie, Embryologie et Cyotgénétique, Faculte de Medecine, Universite de Bretagne Occidentale, Brest, France
    Leuk Lymphoma 44:1333-8. 2003
    ..The detection of this deletion could thus constitute an argument to start STI treatment in first intent for these patients...
  47. pmc Using bacterial artificial chromosomes in leukemia research: the experience at the university cytogenetics laboratory in Brest, France
    Etienne De Braekeleer
    Faculte de Medecine et des Sciences de la Sante, Universite de Brest, 22, avenue Camille Desmoulins, CS 93837, F 29238 Brest cedex 3, France
    J Biomed Biotechnol 2011:329471. 2011
    ..However, this technique has limitations also, and it cannot be used to identify candidate genes at breakpoints of chromosomal rearrangements such as translocations, insertions, and inversions...
  48. doi request reprint ABL1 fusion genes in hematological malignancies: a review
    Etienne De Braekeleer
    Universite de Brest, Faculte de Medecine et des Sciences de la Sante, Brest Institut National de la Santé et de la Recherche Médicale INSERM, Brest CHRU Brest, Hopital Morvan, Service de Cytogénétique, Cytologie et Biologie de la Reproduction, Brest, France
    Eur J Haematol 86:361-71. 2011
    ..Screening for ABL1 chimeric genes could be performed in patients with ALL, more particularly in those with T-cell ALL because ABL1 modulates T-cell development and plays a role in cytoskeletal remodeling processes in T cells...
  49. ncbi request reprint Translocation (10;17)(p15;q21) is a recurrent anomaly in acute myeloblastic leukemia
    Adrian Tempescul
    Department of Clinical Hematology, Institute of Cancerology and Hematology, CHU Morvan, avenue Foch, 29609 Brest, France
    Cancer Genet Cytogenet 172:74-6. 2007
    ..Four other patients with this translocation have been reported, three of them having acute undifferentiated or poorly differentiated leukemia...
  50. doi request reprint Identification of a novel population in high-grade oligodendroglial tumors not deleted on 1p/19q using array CGH
    Matthieu Talagas
    Faculte de Medecine et des Sciences de la Sante, Universite de Brest, Brest, France
    J Neurooncol 109:405-13. 2012
    ..Our results show a strong association between these four alterations. Therefore, this can open a perspective for a novel subgroup in high-grade ODTs not deleted on 1p/19q...
  51. doi request reprint [A silent-growing and fast-killing melanoma in a teenager]
    Arnaud Uguen
    Service d Anatomie Pathologique, pôle biologie pathologie, CHRU de Brest, 2, avenue Foch, 29609 Brest Cedex, France
    Ann Pathol 32:254-8. 2012
    ..This observation raises actual limits and challenges in the fields of diagnosis and treatment of fast-killing melanomas...
  52. ncbi request reprint Meiotic segregation of X-autosome translocation in two carriers and implications for assisted reproduction
    Aurore Perrin
    Laboratoire d Histologie, Embryologie et Cytogenetique, Faculte de Medecine et des Sciences de la Sante, Universite de Bretagne Occidentale, Brest, France
    Reprod Biomed Online 18:850-5. 2009
    ..For couple 2, the clinic viewed favourably an attempt with ICSI followed by conventional prenatal diagnosis. A 46,XY child was born without malformations...
  53. ncbi request reprint Deletion size characterization of der(9) deletions in Philadelphia-positive chronic myeloid leukemia
    Nathalie Douet-Guilbert
    Laboratory of Histology, Embryology and Cytogenetics, Faculty of Medicine and Health Sciences, Université de Bretagne Occidentale UBO, Brest, France
    Cancer Genet Cytogenet 170:89-92. 2006
    ..We think that there could be one or more genes coding for interferon receptors or for proteins acting directly or indirectly with these receptors in the deleted regions...
  54. ncbi request reprint Trisomy 15 as the sole abnormality in myelodysplastic syndromes: case report and review of the literature
    Frederic Morel
    Service de Cytogénétique, Cytologie et Biologie de la Reproduction, CHU Morvan, Brest, France
    Leuk Lymphoma 44:549-51. 2003
    ..Therefore, the two events occurred independently, the loss of the Y chromosome being possibly due to aging and the trisomy 15 to the hematologic disorder...
  55. ncbi request reprint Cystic fibrosis at the Reunion Island (France): spectrum of mutations and genotype-phenotype for the Y122X mutation
    Ingrid Duguépéroux
    Laboratoire d Histologie, Embryologie et Cytogenetique, Faculte de Medecine et des Sciences de la Sante, Universite de Bretagne Occidentale, Brest, France
    J Cyst Fibros 3:185-8. 2004
    ..The Reunion Island is a French administrative department located in the Indian Ocean between the islands of Madagascar and Mauritius. Its population is known to be at a high risk of cystic fibrosis (CF)...
  56. ncbi request reprint Diagnosis and outcome of complete hydatidiform mole coexisting with a live twin fetus
    Pascale Marcorelles
    Service d Anatomie Pathologique, CHU Morvan, 5 avenue Foch, 29609 Brest Cedex, France
    Eur J Obstet Gynecol Reprod Biol 118:21-7. 2005
    ..The aim of this study was to highlight the outcome of complete hydatidiform mole (CHM) coexisting with a live co-twin...
  57. doi request reprint Breast implant-associated anaplastic large-cell lymphoma can be a diagnostic challenge for pathologists
    Matthieu Talagas
    Department of Cytology, Cytogenetics and Reproductive Biology, CHRU Brest, Brest, France
    Acta Cytol 58:103-7. 2014
    ..A total capsulectomy with a good sampling for microscopic examination should be conducted for any suspicion of breast implant-associated ALCL. Cytology-histology correlation is essential. © 2013 S. Karger AG, Basel. ..
  58. ncbi request reprint VEGFR1 and NRP1 endothelial expressions predict distant relapse after radical prostatectomy in clinically localized prostate cancer
    Matthieu Talagas
    University of Brest, Brest, France
    Anticancer Res 33:2065-75. 2013
    ....
  59. doi request reprint Study of aneuploidy in large-headed, multiple-tailed spermatozoa: case report and review of the literature
    Aurore Perrin
    Faculte de Medecine et des Sciences de la Sante, Laboratoire d Histologie, Embryologie et Cytogenetique, Universite de Bretagne Occidentale, Brest, France
    Fertil Steril 90:1201.e13-7. 2008
    ..To determine the meiotic segregation in large-headed, multiple-tailed spermatozoa...
  60. ncbi request reprint Spatial and temporal distribution of cystic fibrosis and of its mutations in Brittany, France: a retrospective study from 1960
    Virginie Scotet
    INSERM EMI 01 15, Laboratoire de Génétique moléculaire et d Histocompatibilité, CHU Morvan, UBO, EFS Bretagne, 46 rue Félix Le Dantec, BP 454, 29275 Brest Cedex, France
    Hum Genet 111:247-54. 2002
    ....
  61. ncbi request reprint RUNX1 translocations in malignant hemopathies
    Etienne De Braekeleer
    National Institute of Health and Medical Research, U613, Brest, France
    Anticancer Res 29:1031-7. 2009
    ..All the translocations that retain RHD but remove the transcription activation domain have a leukemogenic effect by acting as dominant negative inhibitors of wild-type RUNX1 in transcription activation...
  62. doi request reprint Molecular cytogenetic analysis by genomic hybridization to determine the cause of recurrent miscarriage
    Aurore Perrin
    Laboratoire d Histologie, Embryologie et Cytogenetique, Faculte de Medecine et des Sciences de la Sante, Universite de Brest, Brest, France
    Fertil Steril 93:2075.e3-6. 2010
    ....
  63. ncbi request reprint Molecular cytogenetic characterization of two small chromosome 8 derived supernumerary mosaic markers
    A Herry
    Service de Cytogénétique, Cytologie et Biologie de la Reproduction, CHU Morvan, F 23298 Brest cedex 3, France
    Am J Med Genet A 128:33-8. 2004
    ..However, the structure and content of the markers were elucidated using other molecular cytogenetic techniques, showing their complementarity...
  64. ncbi request reprint An increased incidence of autosomal aneuploidies in spermatozoa from a patient with Klinefelter's syndrome
    Frederic Morel
    Laboratoire d Histologie, Embryologie et Cytogenetique, Faculte de Medecine, Universite de Bretagne Occidentale, and Service de Cytogénétique, Cytologie et Biologie de la Reproduction, CHU Morvan, Brest, France
    Fertil Steril 79:1644-6. 2003
    ..To determine whether there is an increased incidence of autosomal aneuploidies in spermatozoa from a subject with nonmosaic Klinefelter's syndrome...
  65. doi request reprint Clinical and molecular cytogenetic studies in ring chromosome 5: report of a child with congenital abnormalities
    Audrey Basinko
    Laboratoire d Histologie, Cytologie et Cytogénétique, Faculté de médecine et des sciences de santé, Universite de Bretagne Occidentale, 22, avenue Camille Desmoulins, CS 93837, F 29238 Brest cedex 3, France
    Eur J Med Genet 55:112-6. 2012
    ..3-5qter deletion. We propose that VEGFR3, deleted in our patient, could be a candidate gene for the congenital heart abnormalities observed...
  66. ncbi request reprint Cystic fibrosis and pregnancy. Report from French data (1980-1999)
    Dominique Gillet
    Laboratoire de Cytogenetique, Faculte de Medecine, Universite de Bretagne Occidentale, 22, avenue Camille Desmoulins, F 29285 Brest, France
    BJOG 109:912-8. 2002
    ..To study the consequences of pregnancy on women affected by cystic fibrosis and to clarify the impact of the disease on maternal and newborn health...
  67. ncbi request reprint Identification of a complex (11;17;15) translocation in acute promyelocytic leukemia
    Nathalie Douet-Guilbert
    Cancer Genet Cytogenet 163:93-4. 2005
  68. ncbi request reprint Rearrangement of the RHOH gene in a case of splenic lymphoma with villous lymphocytes
    Izabel Bernicot
    Cancer Genet Cytogenet 170:78-9. 2006
  69. ncbi request reprint Paternity in men with cystic fibrosis: a retrospective survey in France
    Ingrid Duguépéroux
    Service de Cytogénétique, Faculté de Médecine et des Sces de la Santé, UBO and CHU Morvan, 29388 Brest, France
    J Cyst Fibros 5:215-21. 2006
    ..Because more patients reach adulthood, new questions as "what about having a child and/or paternity responsibility?" arose...
  70. ncbi request reprint Impact of public health strategies on the birth prevalence of cystic fibrosis in Brittany, France
    Virginie Scotet
    INSERM EMI 01 15, Laboratoire de Génétique moléculaire et d Histocompatibilité, Hospital, University, EFS Bretagne, 46 rue Félix Le Dantec, BP 454, 29275, Brest Cedex, France
    Hum Genet 113:280-5. 2003
    ..5%. This work constitutes the first study able to provide a precise measure of CF birth prevalence and of its evolution through the combined effects of neonatal screening, prenatal diagnosis, ultrasound examination and family testing...
  71. ncbi request reprint Autosomal dominant reticuloendothelial iron overload (HFE type 4) due to a new missense mutation in the FERROPORTIN 1 gene (SLC11A3) in a large French-Canadian family
    Sylvain R Rivard
    Haematologica 88:824-6. 2003
  72. ncbi request reprint Beta-thalassemia in the indigenous population of Brittany: identification of three rare mutations
    Déborah Jamet
    Haematologica 91:1418-9. 2006
    ..The mutation in the initiation codon ATG-->ACG was found in four families and may result from an ancient founder effect, as suggested by the haplotype analysis...
  73. ncbi request reprint Translocation 3;21, trisomy 8, and duplication of the Philadelphia chromosome: a rare but recurrent cytogenetic pathway in the blastic phase of chronic myeloid leukemia
    Etienne De Braekeleer
    Cancer Genet Cytogenet 179:159-61. 2007
  74. ncbi request reprint Misprocessing of the CFTR protein leads to mild cystic fibrosis phenotype
    Jérôme Clain
    Institut National de la Santé et de la Recherche Médicale INSERM U 468, Hopital Henri Mondor, Creteil, France
    Hum Mutat 25:360-71. 2005
    ..F508del. Since multiple potential partners could modify the processing of the CFTR protein during its course to the cell surface, environmental and other genetic factors might contribute to this variability...