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New mechanism of BRCA-1 mutation by deletion/insertion at the same nucleotide position in three unrelated French breast/ovarian cancer families |
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| Authors: | Nadège Presneau Valérie Laplace-Marieze Valérie Sylvain Alain Lortholary Agnès Hardouin Dominique Bernard-Gallon Y-J Bignon |
| Institution: | Laboratory of Molecular Oncology, INSERM CRI 9502 and EA 2145, Centre Jean Perrin, BP 392, 58 rue Montalembert, F-63011 Clermont-Ferrand Cedex 1, France e-mail: Yves-Jean.Bignon@cjp.u-clermont1.fr, Tel.: +33-04-73-27-80-50, Fax: +33-04-73-27-80-42, FR Service Of Medical Oncology, Centre Paul Papin, 2 rue Moll, F-49033 Angers Cedex 01, France, FR Laboratory of Clinical Biochemistry and Experimental Oncology, Centre Fran?ois Baclesse, Route de Lion-sur-Mer, BP 5026, F-14021 Caen Cedex, France, FR |
| Abstract: | A novel complex mutation consisting of a small deletion/insertion (3958del5ins4) was found in the breast cancer-1 gene (BRCA-1) in three unrelated French breast and/or ovarian cancer families. These mutations occurred at the same nucleotide position of the 3′ end of exon 11. The wild-type sequence, CTCAG, was deleted and replaced by AGGC in the three families. The consequence is the generation of a stop codon, TAG, resulting in a truncated protein. We propose two different mechanisms to explain the generation of this complex mutation: (i) the simultaneous occurrence of a deletion and an insertion in a stem-loop structure and (ii) the abortive integration of a human transposable element (Tigger 1) that deleted 5 nucleotides and inserted a 4-nucleotide “scar”, corresponding to the 5′ extremity of the transposon. Received: 26 November 1997 / Accepted: 6 February 1998 |
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