Abstract
It is well established that mutations in BRCA1 and BRCA2 genes significantly increase the risk of breast and ovarian cancer. We here report 23 novel genetic variants of the BRCA1 and BRCA2 genes found in 349 cancer-prone unrelated families from Eastern Spain detected during the first 2 years of performance of the Program of Genetic Counseling of Valencia Community. Mutational screening was performed by pre-screening the heteroduplex formed in the PCR products obtained amplifying BRCA1 and BRCA2 genes by conformation sensitive electrophoresis. We detected 10 deletereous mutations, four in BRCA1 (three frame-shift (FS) and one nonsense mutation (NS)) and six in BRCA2 (four FS and one NS mutation). Moreover, we detected 13 unclassified variants, four in BRCA1 (one missense (MS), two synonymous (SYN) and one intronic (I) variant) and nine in BRCA2 (six MS, one SYN and two I). The relevance of the novel mutations is discussed. Our contribution broadens the BRCA1/2 world mutational spectra.
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Acknowledgements
We should express our gratitude to Dr. Dolores Cuevas Cuerda (Jefa de Servicio de Protocolización e Integración Asistencial, Dirección de Asistencia Sanitaria, Consellería de Sanitat, Generalitat Valenciana) and Dolores Salas Trejo (Jefa de Servicio de la Oficina del Plan de Cáncer, Dirección General de Salud Pública, Consellería de Sanitat, Generalitat Valenciana) for her help and strong support given for the establishment and development of the Program of Genetic Counselling in Cancer of Valencia Community. We also should manifest our gratitude to the “Fundación para Investigación La Fe” for having granted Sarai Palanca Suela (Pharmacy Graduate and Specialist in Clinical Biopathology) in a research project in hereditary breast cancer, which made possible her participation in the present study.
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Esteban Cardeñosa, E., Bolufer Gilabert, P., Palanca Suela, S. et al. Twenty-three novel BRCA1 and BRCA2 sequence alterations in breast and/or ovarian cancer families of Eastern Spain. Breast Cancer Res Treat 112, 69–73 (2008). https://doi.org/10.1007/s10549-007-9818-y
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DOI: https://doi.org/10.1007/s10549-007-9818-y