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[Cancer Research 64, 8143-8147, November 15, 2004]
© 2004 American Association for Cancer Research

Advances in Brief

Significant Contribution of Germline BRCA2 Rearrangements in Male Breast Cancer Families

Isabelle Tournier1, Brigitte Bressac-de Paillerets2, Hagay Sobol3, Dominique Stoppa-Lyonnet4, Rosette Lidereau5, Michel Barrois2, Sylvie Mazoyer6, Florence Coulet7, Agnès Hardouin8, Agnès Chompret2, Alain Lortholary9, Pierre Chappuis10, Violaine Bourdon3, Valérie Bonadona11, Christine Maugard12, Brigitte Gilbert13, Catherine Nogues5, Thierry Frébourg1 and Mario Tosi1

1 Institut National de la Santé et de la Recherche Médicale (INSERM) U614, Faculty of Medicine, IFRMP, University of Rouen, Rouen, France; 2 Service de Génétique, Institut Gustave Roussy, Villejuif, France; 3 INSERM EPI 9939 Institut Paoli-Calmettes, Marseille, France; 4 Service de Génétique Oncologique, Institut Curie, Paris, France; 5 Centre René Huguenin, INSERM E0017, Saint-Cloud, France; 6 Laboratoire de Génétique, Formation de Recherche en Evolution 2692 Centre National de la Recherche Scientifique, Université Claude Bernard, Lyon, France; 7 Génétique Moléculaire, Hôpital Tenon, Paris, France; 8 Laboratoire de Biologie Clinique et Oncologique, Centre François Baclesse, Caen, France; 9 Centre Catherine de Sienne, Nantes, France; 10 Service d’Oncologie, Hôpital Universitaire de Genève, Suisse; 11 Centre Léon-Bérard, Lyon, France; 12 Centre René Gauducheau, Unité d’Oncologie Génétique, Nantes, France; and 13 Service de Génétique Médicale, Poitiers, France

Although screening for large deletions or duplications of the BRCA1 gene is becoming a routine component of the molecular diagnosis of familial breast cancer, little is known about the occurrence of such rearrangements in the BRCA2 gene. Because of the high frequency of BRCA2 mutations in breast cancer families with at least one case of male breast cancer, we selected a cohort of 39 such families, tested negative for mutations in the coding regions of BRCA1 and BRCA2, and developed an assay for BRCA2 rearrangements, based on quantitative multiplex PCR of short fluorescent fragments (QMPSF). We found three rearrangements: (1) a deletion of exons 12 and 13; (2) a duplication of exons 1 and 2; and (3) a complete deletion of BRCA2. We determined the boundaries of the deletion of exons 12 and 13, showing that it resulted from an unequal recombination between Alu sequences. We mapped the complete BRCA2 deletion, which extends over at least 298 kb and showed that it does not affect APRIN/AS3, previously characterized as a tumor suppressor gene, but it comprises several loci corresponding to proven or putative transcripts of unknown functional significance. These data suggest that screening for BRCA2 rearrangements should be done, especially in male breast cancer families tested negative for BRCA1 and BRCA2 mutations.




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