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

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

doi:10.1007/s10549-010-1036-3

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

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

21 Citationer (Scopus)

Abstract

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.

Originalsprog	Engelsk
Tidsskrift	Breast Cancer Research and Treatment
Vol/bind	127
Udgave nummer	3
Sider (fra-til)	671-9
Antal sider	9
ISSN	0167-6806
DOI	https://doi.org/10.1007/s10549-010-1036-3
Status	Udgivet - jun. 2011

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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., ... Teixeira, M. R. (2011). International distribution and age estimation of the Portuguese BRCA2 c.156_157insAlu founder mutation. Breast Cancer Research and Treatment, 127(3), 671-9. https://doi.org/10.1007/s10549-010-1036-3

Peixoto, A, Santos, C, Pinheiro, M, Pinto, P, Soares, MJ, Rocha, P, Gusmão, L, Amorim, A, van der Hout, A, Gerdes, A-M, Thomassen, M, Kruse, TA, Cruger, D, Sunde, LEM, Bignon, Y-J, Uhrhammer, N, Cornil, L, Rouleau, E, Lidereau, R, Yannoukakos, D, Pertesi, M, Narod, S, Royer, R, Costa, MM, 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, EA, Durán, M, Miramar, M-D, Valle, AR, Calvo, M-T, Vega, A, Blanco, A, Diez, O, Gutiérrez-Enríquez, S, Balmaña, J, ramon cajal, T, Alonso, C, Baiget, M, Foulkes, W, Tischkowitz, M, Kyle, R, Sabbaghian, N, Ashton-Prolla, P, Ewald, IP, Rajkumar, T, Mota-Vieira, L, Giannini, G, Gulino, A, Achatz, MI, Carraro, DM, de Paillerets, BB, Remenieras, A, Benson, C, Casadei, S, King, M-C, Teugels, E & Teixeira, MR 2011, 'International distribution and age estimation of the Portuguese BRCA2 c.156_157insAlu founder mutation', Breast Cancer Research and Treatment, bind 127, nr. 3, s. 671-9. https://doi.org/10.1007/s10549-010-1036-3

@article{3f8cef8c0eac4c0682b3db6e5f546885,

title = "International distribution and age estimation of the Portuguese BRCA2 c.156_157insAlu founder mutation",

abstract = "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.",

author = "Ana Peixoto and Catarina Santos and Manuela Pinheiro and Pedro Pinto and Soares, {Maria Jos{\'e}} and Patr{\'i}cia Rocha and Leonor Gusm{\~a}o and Ant{\'o}nio Amorim and {van der Hout}, Annemarie and Anne-Marie Gerdes and Mads Thomassen and Kruse, {Torben A} and Dorthe Cruger and Sunde, {Lone E. M.} and Yves-Jean Bignon and Nancy Uhrhammer and Lucie Cornil and Etienne Rouleau and Rosette Lidereau and Drakoulis Yannoukakos and Maroulio Pertesi and Steven Narod and Robert Royer and Costa, {Maur{\'i}cio M} and Conxi Lazaro and Lidia Feliubadal{\'o} and Bego{\~n}a Gra{\~n}a and Ignacio Blanco and {de la Hoya}, Miguel and Trinidad Cald{\'e}s and Philippe Maillet and Gaelle Benais-Pont and Bruno Pardo and Yael Laitman and Eitan Friedman and Velasco, {Eladio A} and Mercedes Dur{\'a}n and Maria-Dolores Miramar and Valle, {Ana Rodriguez} and Mar{\'i}a-Teresa Calvo and Ana Vega and Ana Blanco and Orland Diez and Sara Guti{\'e}rrez-Enr{\'i}quez and Judith Balma{\~n}a and {ramon cajal}, Teresa and Carmen Alonso and Montserrat Baiget and William Foulkes and Marc Tischkowitz and Rachel Kyle and Nelly Sabbaghian and Patricia Ashton-Prolla and Ewald, {Ingrid P} and Thangarajan Rajkumar and Luisa Mota-Vieira and Giuseppe Giannini and Alberto Gulino and Achatz, {Maria I} and Carraro, {Dirce M} and {de Paillerets}, {Brigitte Bressac} and Audrey Remenieras and Cindy Benson and Silvia Casadei and Mary-Claire King and Erik Teugels and Teixeira, {Manuel R}",

year = "2011",

month = jun,

doi = "10.1007/s10549-010-1036-3",

language = "English",

volume = "127",

pages = "671--9",

journal = "Breast Cancer Research and Treatment",

issn = "0167-6806",

publisher = "Springer",

number = "3",

}

TY - JOUR

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 - 2011/6

Y1 - 2011/6

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 - 10.1007/s10549-010-1036-3

DO - 10.1007/s10549-010-1036-3

M3 - Journal article

SN - 0167-6806

VL - 127

SP - 671

EP - 679

JO - Breast Cancer Research and Treatment

JF - Breast Cancer Research and Treatment

IS - 3

ER -

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

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