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IARC, 150 Cours Albert Thomas, 69372 Lyon Cedex 08, France [N. P., O. M. S-S., G. M. L., S. M.]; Laboratoire de Génétique, Unité Mixte de Recherche 5641 Centre National de la Recherche Scientifique, Université Claude Bernard, 69373 Lyon Cedex 08, France [N. P., O. M. S-S., G. M. L., S. M.]; Laboratoire de Génétique Oncologique, Unité de Recherche Associée 1964 Centre National de la Recherche Scientifique, Institut Gustave Roussy, 94805 Villejuif, France [D. T., J. F.]; and Department of Preventive Medicine and Public Health, Creighton University School of Medicine, Omaha, Nebraska 68178 [H. T. L.]
Although more than 100 different BRCA1 germ-line mutations have already been identified in breast and/or ovarian cancer families, we report for the first time a deleterious genomic rearrangement in BRCA1. A 1-kb deletion comprising exon 17 was found in a large breast and ovarian cancer family, leading to a frameshift in the mutant mRNA due to the absence of exon 17. This deletion is probably the result of a recombination between two closely related Alu sequences. It was not detected by conventional PCR-based methods involving the genomic screening of the 22 coding exons or reverse transcription-PCR because the transcript without exon 17 is unstable in lymphoblastoid cell lines. Therefore, rearrangements in the BRCA1 gene should be sought in breast/ovarian cancer families in which no mutations have been found by PCR-based methods in the coding region or in the splice sites.
1 Supported by program grants from le Comité Départemental de l'Ain de La Ligue Nationale contre le Cancer, the Council for Tobacco Research (Grant 127DR@), the Department of the United States Army (Grant DAMD17-94-J-4340), and the Nebraska State Cancer and Smoking-related Diseases Program. N. P. is a fellow of the Ligue contre le Cancer de Haute-Savoie, and S. M. is a recipient of an IARC special training award.
2 To whom requests for reprints should be addressed. Phone: 33-4-72-73-85-57; Fax: 33-4-72-73-85-75; E-mail: lenoir@iarc.fr.
Received 11/ 5/96. Accepted 1/17/97.
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