L Faivre

Publications (3)7.67 Total impact

• Article: Molecular study of CEPBA in familial hematological malignancies.

  R El Abed, V Bourdon, L Huiart, F Eisinger, A Khelif, M Frenay, P Gesta, L Demange, H Dreyfus, V Bonadona, C Dugast, H Zattara, L Faivre, T Noguchi, R Sauvan, Z Soua, H Sobol
  [show abstract] [hide abstract]
  ABSTRACT: Familial aggregation in patients with several haematological malignancies has been described, but the genetic basis for this familial clustering is not known. Few genes predisposing to familial haematological malignancies have been identified, among which RUNX1 and CEBPA have been described as predisposing genes to acute myeloid leukemia (AML). Recent studies on RUNX1 suggest that germline mutations in this gene predispose to a larger panel of familial haematological malignancies than AML. In order to strengthen this hypothesis, we have screened CEBPA for germline mutations in several families presenting aggregation of hematological malignancies (including chronic or acute, lymphoid or myeloid leukemias, Hodgkin's or non Hodgkin's lymphomas, and myeloproliferative or myelodysplastic syndromes) with or without solid tumours. Although no deleterious mutations were found, we report two novel and rare variants of uncertain significance. In addition, we confirm that the in frame insertion c.1175_1180dup (p.P194_H195dup) is a germline polymorphism.
  Familial Cancer 12/2009; 8(4):581-584. · 1.30 Impact Factor
• Article: The contribution of germline rearrangements to the spectrum of BRCA2 mutations.

  F Casilli, I Tournier, O M Sinilnikova, F Coulet, F Soubrier, C Houdayer, A Hardouin, P Berthet, H Sobol, V Bourdon, [......], D M Provencher, C Dugast, C Delvincourt, T D Nguyen, L Faivre, V Bonadona, T Frébourg, R Lidereau, D Stoppa-Lyonnet, M Tosi
  [show abstract] [hide abstract]
  ABSTRACT: Few germline BRCA2 rearrangements have been described compared with the large number of germline rearrangements reported in the BRCA1 gene. However, some BRCA2 rearrangements have been reported in families that included at least one case of male breast cancer. To estimate the contribution of large genomic rearrangements to the spectrum of BRCA2 defects. Quantitative multiplex PCR of short fluorescent fragments (QMPSF) was used to screen the BRCA2 gene for germline rearrangements in highly selected families. QMPSF was previously used to detect heterozygous deletions/duplications in many genes including BRCA1 and BRCA2. We selected a subgroup of 194 high risk families with four or more breast cancers with an average age at diagnosis of < or = 50 years, who were recruited through 14 genetic counselling centres in France and one centre in Switzerland. BRCA2 mutations were detected in 18.6% (36 index cases) and BRCA1 mutations in 12.4% (24 index cases) of these families. Of the 134 BRCA1/2 negative index cases in this subgroup, 120 were screened for large rearrangements of BRCA2 using QMPSF. Novel and distinct BRCA2 deletions were detected in three families and their boundaries were determined. We found that genomic rearrangements represent 7.7% (95% confidence interval 0% to 16%) of the BRCA2 mutation spectrum. The molecular diagnosis of breast cancer predisposition should include screening for BRCA2 rearrangements, at least in families with a high probability of BRCA2 defects.
  Journal of Medical Genetics 09/2006; 43(9):e49. · 6.36 Impact Factor
• Article: Reproductive and hormonal factors, and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers: results from the International BRCA1/2 Carrier Cohort Study

  A C Antoniou, M A Rookus, N Andrieu, R Brohet, J Chang-Claude, S Peock, M Cook, D G Evans, R Eeles, C Nogues, L Faivre, P Gesta, F E van Leeuwen, M.G.E.M. Ausems, A Osorio, X et al