Article
International distribution and age estimation of the Portuguese BRCA2 c.156_157insAlu founder mutation.
Breast cancer research and treatment - 1 Jun 2011
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, Teixeira Manuel R
Abstract excerpt
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...
Read the complete abstract on PubMed