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Annals of Oncology Advance Access originally published online on May 7, 2009
Annals of Oncology 2009 20(6):1143-1144; doi:10.1093/annonc/mdp241
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© The Author 2009. Published by Oxford University Press on behalf of the European Society for Medical Oncology. All rights reserved. For permissions, please email: journals.permissions@oxfordjournals.org

letters to the editor

An unusual BRCA2 allele carrying two splice site mutations

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Pensabene et al. [1] reported on an Italian woman, affected with breast and ovarian cancers, who carried two germline deleterious mutations (859G>A and IVS13-2A>T) in BRCA2, a high-penetrance breast/ovarian cancer susceptibility gene [2]. Both mutations were found to alter normal messenger RNA splicing, leading to the skipping of exons 7 and 14, respectively, and introducing premature stop codons. Due to the . . . [Full Text of this Article]

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M. Colombo1, C. B. Ripamonti1, V. Pensotti2, C. Foglia1, B. Peissel3, M. A. Pierotti4, S. Manoukian3 and P. Radice1,5,*

1 Unit of Genetic Susceptibility to Cancer, Department of Experimental Oncology, Fondazione IRCCS Istituto Nazionale Tumori
2 Cogentech, Consortium for Genomic Technologies
3 Unit of Medical Genetics, Fondazione IRCCS Istituto Nazionale Tumori
4 Scientific Direction, Fondazione IRCCS Istituto Nazionale Tumori
5 Fondazione Istituto FIRC di Oncologia Molecolare, Milan, Italy

* (E-mail: paolo.radice@istitutotumori.mi.it)


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