International distribution and age estimation of the Portuguese BRCA2 c.156_157insAlu founder mutation
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International distribution and age estimation of the Portuguese BRCA2 c.156_157insAlu founder mutation. / 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 E. M.; 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 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.
I: Breast Cancer Research and Treatment, Bind 127, Nr. 3, 2011, s. 671-9.Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt
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T1 - International distribution and age estimation of the Portuguese BRCA2 c.156_157insAlu founder mutation
AU - Peixoto, Ana
AU - Santos, Catarina
AU - Pinheiro, Manuela
AU - Pinto, Pedro
AU - Soares, Maria José
AU - Rocha, Patrícia
AU - Gusmão, Leonor
AU - Amorim, António
AU - van der Hout, Annemarie
AU - Gerdes, Anne-Marie
AU - Thomassen, Mads
AU - Kruse, Torben A
AU - Cruger, Dorthe
AU - Sunde, Lone E. M.
AU - Bignon, Yves-Jean
AU - Uhrhammer, Nancy
AU - Cornil, Lucie
AU - Rouleau, Etienne
AU - Lidereau, Rosette
AU - Yannoukakos, Drakoulis
AU - Pertesi, Maroulio
AU - Narod, Steven
AU - Royer, Robert
AU - Costa, Maurício M
AU - Lazaro, Conxi
AU - Feliubadaló, Lidia
AU - Graña, Begoña
AU - Blanco, Ignacio
AU - de la Hoya, Miguel
AU - Caldés, Trinidad
AU - Maillet, Philippe
AU - Benais-Pont, Gaelle
AU - Pardo, Bruno
AU - Laitman, Yael
AU - Friedman, Eitan
AU - Velasco, Eladio A
AU - Durán, Mercedes
AU - Miramar, Maria-Dolores
AU - Valle, Ana Rodriguez
AU - Calvo, María-Teresa
AU - Vega, Ana
AU - Blanco, Ana
AU - Diez, Orland
AU - Gutiérrez-Enríquez, Sara
AU - Balmaña, Judith
AU - ramon cajal, Teresa
AU - Alonso, Carmen
AU - Baiget, Montserrat
AU - Foulkes, William
AU - Tischkowitz, Marc
AU - Kyle, Rachel
AU - Sabbaghian, Nelly
AU - Ashton-Prolla, Patricia
AU - Ewald, Ingrid P
AU - Rajkumar, Thangarajan
AU - Mota-Vieira, Luisa
AU - Giannini, Giuseppe
AU - Gulino, Alberto
AU - Achatz, Maria I
AU - Carraro, Dirce M
AU - de Paillerets, Brigitte Bressac
AU - Remenieras, Audrey
AU - Benson, Cindy
AU - Casadei, Silvia
AU - King, Mary-Claire
AU - Teugels, Erik
AU - Teixeira, Manuel R
PY - 2011
Y1 - 2011
N2 - 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.
AB - 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.
U2 - http://dx.doi.org/10.1007/s10549-010-1036-3
DO - http://dx.doi.org/10.1007/s10549-010-1036-3
M3 - Journal article
VL - 127
SP - 671
EP - 679
JO - Breast Cancer Research and Treatment
JF - Breast Cancer Research and Treatment
SN - 0167-6806
IS - 3
ER -
ID: 40153742