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8 results on '"Benais-Pont, Gaelle"'

2. International distribution and age estimation of the Portuguese BRCA2 c.156_157insAlu founder mutation

Author

Peixoto, Ana, Santos, Catarina, Pinheiro, Manuela, Pinto, Pedro, Soares, Maria José, Rocha, Patrícia, Gusmão, Leonor, Amorim, António, van der Hout, Annemarie, Gerdes, Anne-Marie, Thomassen, Mads, Kruse, Torben A., Cruger, Dorthe, Sunde, Lone, Bignon, Yves-Jean, Uhrhammer, Nancy, Cornil, Lucie, Rouleau, Etienne, Lidereau, Rosette, Yannoukakos, Drakoulis, Pertesi, Maroulio, Narod, Steven, Royer, Robert, Costa, Maurício M., Lazaro, Conxi, Feliubadaló, Lidia, Graña, Begoña, Blanco, Ignacio, de la Hoya, Miguel, Caldés, Trinidad, Maillet, Philippe, Benais-Pont, Gaelle, Pardo, Bruno, Laitman, Yael, Friedman, Eitan, Velasco, Eladio A., Durán, Mercedes, Miramar, Maria-Dolores, Valle, Ana Rodriguez, Calvo, María-Teresa, Vega, Ana, Blanco, Ana, Diez, Orland, Gutiérrez-Enríquez, Sara, Balmaña, Judith, Ramon y Cajal, Teresa, Alonso, Carmen, Baiget, Montserrat, Foulkes, William, Tischkowitz, Marc, Kyle, Rachel, Sabbaghian, Nelly, Ashton-Prolla, Patricia, Ewald, Ingrid P., Rajkumar, Thangarajan, Mota-Vieira, Luisa, Giannini, Giuseppe, Gulino, Alberto, Achatz, Maria I., Carraro, Dirce M., de Paillerets, Brigitte Bressac, Remenieras, Audrey, Benson, Cindy, Casadei, Silvia, King, Mary-Claire, Teugels, Erik, and Teixeira, Manuel R.

Published
2011
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5. International distribution and age estimation of the Portuguese BRCA2 c.156_157insAlu founder mutation

Author

Peixoto, Ana, primary, Santos, Catarina, additional, Pinheiro, Manuela, additional, Pinto, Pedro, additional, Soares, Maria José, additional, Rocha, Patrícia, additional, Gusmão, Leonor, additional, Amorim, António, additional, van der Hout, Annemarie, additional, Gerdes, Anne-Marie, additional, Thomassen, Mads, additional, Kruse, Torben A., additional, Cruger, Dorthe, additional, Sunde, Lone, additional, Bignon, Yves-Jean, additional, Uhrhammer, Nancy, additional, Cornil, Lucie, additional, Rouleau, Etienne, additional, Lidereau, Rosette, additional, Yannoukakos, Drakoulis, additional, Pertesi, Maroulio, additional, Narod, Steven, additional, Royer, Robert, additional, Costa, Maurício M., additional, Lazaro, Conxi, additional, Feliubadaló, Lidia, additional, Graña, Begoña, additional, Blanco, Ignacio, additional, de la Hoya, Miguel, additional, Caldés, Trinidad, additional, Maillet, Philippe, additional, Benais-Pont, Gaelle, additional, Pardo, Bruno, additional, Laitman, Yael, additional, Friedman, Eitan, additional, Velasco, Eladio A., additional, Durán, Mercedes, additional, Miramar, Maria-Dolores, additional, Valle, Ana Rodriguez, additional, Calvo, María-Teresa, additional, Vega, Ana, additional, Blanco, Ana, additional, Diez, Orland, additional, Gutiérrez-Enríquez, Sara, additional, Balmaña, Judith, additional, Ramon y Cajal, Teresa, additional, Alonso, Carmen, additional, Baiget, Montserrat, additional, Foulkes, William, additional, Tischkowitz, Marc, additional, Kyle, Rachel, additional, Sabbaghian, Nelly, additional, Ashton-Prolla, Patricia, additional, Ewald, Ingrid P., additional, Rajkumar, Thangarajan, additional, Mota-Vieira, Luisa, additional, Giannini, Giuseppe, additional, Gulino, Alberto, additional, Achatz, Maria I., additional, Carraro, Dirce M., additional, de Paillerets, Brigitte Bressac, additional, Remenieras, Audrey, additional, Benson, Cindy, additional, Casadei, Silvia, additional, King, Mary-Claire, additional, Teugels, Erik, additional, and Teixeira, Manuel R., additional

Published
2010
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8. BRCA1 and BRCA2 germline mutations screening in Algerian breast/ovarian cancer families.

Author

Cherbal, Farid, Bakour, Rabah, Adane, Saida, Boualga, Kada, Benais-Pont, Gaelle, and Maillet, Philippe

Subjects
*CANCER in women, *GERM cells, *GENETIC polymorphisms, *BREAST cancer, *IMAGING of cancer
Abstract

Background: Breast cancer is the leading cause of cancer death in women in Algeria. The contribution of BRCA1 and BRCA2 mutations to hereditary breast/ovarian cancer in Algerian population is largely unknown. Here, we describe analysis of BRCA1 and BRCA2 genes in 86 individuals from 70 families from an Algerian cohort with a personal and family history suggestive of genetic predisposition to breast cancer. Methods: The approach used is based on BRCA1 and BRCA2 mutations screening by High-Resolution Melting (HRM) curve analysis followed by direct sequencing. All samples for which no pathogenic mutation was found were analyzed by MLPA for large deletions or duplications. Results: Three distinct pathogenic mutations c.83_84delTG, c.181T>G, c.798_799delTT and two large rearrangements involving deletion of exon 2 and exon 8 respectively, were detected in BRCA1 gene. Moreover 17 unclassified variants and polymorphisms were detected in BRCA1 gene (6 described for the first time). Two pathogenic mutations, c.1310_1313delAAGA and c.5722_5723delCT and 40 unclassified variants and polymorphisms (14 never described before) were identified in BRCA2 gene. Conclusions: For the first time, we used HRM and MLPA to identify BRCA1 and BRCA2 mutations in Algerian patients with a personal and family history suggestive of genetic predisposition to breast cancer. The implications of these new findings in regard to genetic testing and counseling are substantial for the Algerian population. [ABSTRACT FROM AUTHOR]

Published
2010
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