International distribution and age estimation of the Portuguese BRCA2 c.156_157insAlu founder mutation
| العنوان: | International distribution and age estimation of the Portuguese BRCA2 c.156_157insAlu founder mutation |
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| المؤلفون: | Maria J. Soares, Mauricio Magalhaes Costa, Ingrid Petroni Ewald, Rachel Kyle, Nelly Sabbaghian, Torben A Kruse, Leonor Gusmão, Mads Thomassen, Silvia Casadei, Annemarie H. van der Hout, Marc Tischkowitz, Patrícia Rocha, Ana Vega, Miguel de la Hoya, Patricia Ashton-Prolla, Lone Sunde, Sara Gutiérrez-Enríquez, Dirce Maria Carraro, Conxi Lázaro, Philippe Maillet, Maroulio Pertesi, Cindy Benson, Pedro Pinto, Alberto Gulino, Nancy Uhrhammer, Drakoulis Yannoukakos, William D. Foulkes, Lucie Cornil, Etienne Rouleau, Ana Peixoto, Ignacio Blanco, Gaelle Benais-Pont, Robert Royer, Mary Claire King, Montserrat Baiget, Thangarajan Rajkumar, María Dolores Miramar, Ana Rodriguez Valle, Maria Teresa Calvo, Judith Balmaña, Anne-Marie Gerdes, Rosette Lidereau, Giuseppe Giannini, Catarina Santos, Eladio Velasco, Maria Isabel Achatz, Dorthe G. Crüger, Luisa Mota-Vieira, Carmen Alonso, Orland Diez, Eitan Friedman, Manuela Pinheiro, Brigitte Bressac-de Paillerets, Yael Laitman, Steven A. Narod, Teresa Ramón y Cajal, Begoña Graña, António Amorim, Trinidad Caldés, Lídia Feliubadaló, Mercedes Durán, Bruno Pardo, Erik Teugels, Audrey Remenieras, Manuel R. Teixeira, Yves-Jean Bignon, Ana Blanco |
| المصدر: | Digital.CSIC. Repositorio Institucional del CSIC instname Peixoto, A, Santos, C, Pinheiro, M, Pinto, P, Soares, M J, Rocha, P, Gusmão, L, Amorim, A, van der Hout, A, Gerdes, A-M, Thomassen, M, Kruse, T A, Cruger, D, Sunde, L E M, Bignon, Y-J, Uhrhammer, N, Cornil, L, Rouleau, E, Lidereau, R, Yannoukakos, D, Pertesi, M, Narod, S, Royer, R, Costa, M M, Lazaro, C, Feliubadaló, L, Graña, B, Blanco, I, de la Hoya, M, Caldés, T, Maillet, P, Benais-Pont, G, Pardo, B, Laitman, Y, Friedman, E, Velasco, E A, Durán, M, Miramar, M-D, Valle, A R, Calvo, M-T, Vega, A, Blanco, A, Diez, O, Gutiérrez-Enríquez, S, Balmaña, J, Ramon Y Cajal, T, Alonso, C, Baiget, M, Foulkes, W, Tischkowitz, M, Kyle, R, Sabbaghian, N, Ashton-Prolla, P, Ewald, I P, Rajkumar, T, Mota-Vieira, L, Giannini, G, Gulino, A, Achatz, M I, Carraro, D M, de Paillerets, B B, Remenieras, A, Benson, C, Casadei, S, King, M-C, Teugels, E & Teixeira, M R 2011, ' International distribution and age estimation of the Portuguese BRCA2 c.156_157insAlu founder mutation ', Breast Cancer Research and Treatment, vol. 127, no. 3, pp. 671-9 . https://doi.org/10.1007/s10549-010-1036-3Test Peixoto, A, Santos, C, Pinheiro, M, Pinto, P, Soares, M J, Rocha, P, Gusmão, L, Amorim, A, van der Hout, A, Gerdes, A-M, Thomassen, M, Kruse, T A, Cruger, D, Sunde, L, Bignon, Y-J, Uhrhammer, N, Cornil, L, Rouleau, E, Lidereau, R, Yannoukakos, D, Pertesi, M, Narod, S, Royer, R, Costa, M M, Lazaro, C, Feliubadaló, L, Graña, B, Blanco, I, de la Hoya, M, Caldés, T, Maillet, P, Benais-Pont, G, Pardo, B, Laitman, Y, Friedman, E, Velasco, E A, Durán, M, Miramar, M-D, Valle, A R, Calvo, M-T, Vega, A, Blanco, A, Diez, O, Gutiérrez-Enríquez, S, Balmaña, J, Ramon Y Cajal, T, Alonso, C, Baiget, M, Foulkes, W, Tischkowitz, M, Kyle, R, Sabbaghian, N, Ashton-Prolla, P, Ewald, I P, Rajkumar, T, Mota-Vieira, L, Giannini, G, Gulino, A, Achatz, M I, Carraro, D M, de Paillerets, B B, Remenieras, A, Benson, C, Casadei, S, King, M-C, Teugels, E & Teixeira, M R 2011, ' International distribution and age estimation of the Portuguese BRCA2 c.156_157insAlu founder mutation ', Breast Cancer Research and Treatment, vol. 127, no. 3, pp. 671-9 . https://doi.org/10.1007/s10549-010-1036-3Test Breast Cancer Research and Treatment, 127(3), 671-679. SPRINGER BREAST CANCER RESEARCH AND TREATMENT r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau |
| بيانات النشر: | Springer Science and Business Media LLC, 2010. |
| سنة النشر: | 2010 |
| مصطلحات موضوعية: | Proband, Reading Frames, Cancer Research, Genes, BRCA2, Polymerase Chain Reaction, DISEASE, 0302 clinical medicine, BREAST/OVARIAN CANCER FAMILIES, skin and connective tissue diseases, Predictive testing, Sequence Deletion, founder mutation, c.156_157insalu brca2 mutation, hereditary breast/ovarian cancer, age estimation, c.156-157insalu brca2 mutation, Ovarian Neoplasms, Genetics, 0303 health sciences, education.field_of_study, medicine.diagnostic_test, REARRANGEMENT, Founder Effect, 3. Good health, Oncology, 030220 oncology & carcinogenesis, Mutation (genetic algorithm), GENETIC-HETEROGENEITY, Female, Population, Breast Neoplasms, Polymorphism, Single Nucleotide, 03 medical and health sciences, Breast cancer, medicine, Humans, Genetic Predisposition to Disease, Amino Acid Sequence, Genetic Testing, RNA, Messenger, Founder mutation, education, 030304 developmental biology, Genetic testing, Portugal, business.industry, Haplotype, medicine.disease, Genetics, Population, Mutation, Age estimation, c.156_157insAlu BRCA2 mutation, business, Hereditary breast/ovarian cancer, Microsatellite Repeats, Founder effect |
| الوصف: | 9 páginas, 4 figuras, 1 tabla.-- El pdf del artículo es la versión pre-print.-- et al. The c.156_157insAlu BRCA2 mutation has so far only been reported in hereditary breast/ovarian cancer (HBOC) families of Portuguese origin. Since this mutation is not detectable using the commonly used screening methodologies and must be specifically sought, we screened for this rearrangement in a total of 5,443 suspected HBOC families from several countries. Whereas the c.156_157insAlu BRCA2 mutation was detected in 11 of 149 suspected HBOC families from Portugal, representing 37.9% of all deleterious mutations, in other countries it was detected only in one proband living in France and in four individuals requesting predictive testing living in France and in the USA, all being Portuguese immigrants. After performing an extensive haplotype study in carrier families, we estimate that this founder mutation occurred 558 ± 215 years ago. We further demonstrate significant quantitative differences regarding the production of the BRCA2 full length RNA and the transcript lacking exon 3 in c.156_157insAlu BRCA2 mutation carriers and in controls. The cumulative incidence of breast cancer in carriers did not differ from that of other BRCA2 and BRCA1 pathogenic mutations. We recommend that all suspected HBOC families from Portugal or with Portuguese ancestry are specifically tested for this rearrangement. This study was supported by Ministério da Saúde (Project N8 15/2007) and Liga Portuguesa Contra o Cancro. IPATIMUP was funded by Fundaçáo para a Ciência e Tecnologia, through POCI (Programa Operacional Ciència e Inovaçáo 2010). MT and WDF are supported by the Susan G. Komen Foundation for the Cure, the Jewish General Hospital Weekend to End Breast Cancer and the Fonds de la Recherche en Santé du Québec. EAV and MD are supported by grants PI061102 (Ministerio de Ciencia e Innovación) and 200820I135 (CSIC). |
| تدمد: | 1573-7217 0167-6806 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f02e96ceaf1775d47c62e59d3f95ac1dTest https://doi.org/10.1007/s10549-010-1036-3Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....f02e96ceaf1775d47c62e59d3f95ac1d |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 15737217 01676806 |
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