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Haplotype analysis of the BRCA2 9254delATCAT recurrent mutation in breast/ovarian cancer families from Spain

2003; Wiley; Volume: 21; Issue: 4 Linguagem: Inglês

10.1002/humu.9133

1098-1004

Berta Campos, Orland Dı́ez, Fabrice Odefrey, Montserrat Domènech, Virginie Moncoutier, José I. Martínez‐Ferrandis, Ana Osório, Judith Balmañà, Alicia Barroso, M.‐Eugenia Armengod, Javier Benı́tez, Carmen Alonso, Dominique Stoppa‐Lyonnet, David E. Goldgar, Montserrat Baiget,

Genomic variations and chromosomal abnormalities

Human MutationVolume 21, Issue 4 p. 452-452 Mutation in BriefFree Access Haplotype analysis of the BRCA2 9254delATCAT recurrent mutation in breast/ovarian cancer families from Spain†‡ Berta Campos, Berta Campos Servei de Genètica, Hospital de la Santa Creu i Sant Pau, Barcelona, SpainSearch for more papers by this authorOrland Díez, Corresponding Author Orland Díez [email protected] Servei de Genètica, Hospital de la Santa Creu i Sant Pau, Barcelona, SpainServei de Genètica, Hospital de la Santa Creu i Sant Pau, C/ Antonio Maria Claret 167, Barcelona 08025, SpainSearch for more papers by this authorFabrice Odefrey, Fabrice Odefrey Servei d'Oncologia Mèdica, Hospital de la Santa Creu i Sant Pau, Barcelona, SpainSearch for more papers by this authorMontserrat Domènech, Montserrat Domènech Servei de Genètica, Hospital de la Santa Creu i Sant Pau, Barcelona, SpainSearch for more papers by this authorVirginie Moncoutier, Virginie Moncoutier Unit of Genetic Epidemiology, International Agency for Research of Cancer, Lyon, FranceSearch for more papers by this authorJosé Ignacio Martínez-Ferrandis, José Ignacio Martínez-Ferrandis Unité de Génétique Oncologique, Institute Curie, Paris, FranceSearch for more papers by this authorAna Osorio, Ana Osorio Instituto de Investigaciones Citológicas, Valencia, SpainSearch for more papers by this authorJudith Balmaña, Judith Balmaña Centro Nacional de Investigaciones Oncológicas, Madrid, SpainSearch for more papers by this authorAlicia Barroso, Alicia Barroso Instituto de Investigaciones Citológicas, Valencia, SpainSearch for more papers by this authorMaría Eugenia Armengod, María Eugenia Armengod Unité de Génétique Oncologique, Institute Curie, Paris, FranceSearch for more papers by this authorJavier Benítez, Javier Benítez Instituto de Investigaciones Citológicas, Valencia, SpainSearch for more papers by this authorCarmen Alonso, Carmen Alonso Centro Nacional de Investigaciones Oncológicas, Madrid, SpainSearch for more papers by this authorDominique Stoppa-Lyonnet, Dominique Stoppa-Lyonnet Unit of Genetic Epidemiology, International Agency for Research of Cancer, Lyon, FranceSearch for more papers by this authorDavid Goldgar, David Goldgar Servei d'Oncologia Mèdica, Hospital de la Santa Creu i Sant Pau, Barcelona, SpainSearch for more papers by this authorMontserrat Baiget, Montserrat Baiget Servei de Genètica, Hospital de la Santa Creu i Sant Pau, Barcelona, SpainSearch for more papers by this author Berta Campos, Berta Campos Servei de Genètica, Hospital de la Santa Creu i Sant Pau, Barcelona, SpainSearch for more papers by this authorOrland Díez, Corresponding Author Orland Díez [email protected] Servei de Genètica, Hospital de la Santa Creu i Sant Pau, Barcelona, SpainServei de Genètica, Hospital de la Santa Creu i Sant Pau, C/ Antonio Maria Claret 167, Barcelona 08025, SpainSearch for more papers by this authorFabrice Odefrey, Fabrice Odefrey Servei d'Oncologia Mèdica, Hospital de la Santa Creu i Sant Pau, Barcelona, SpainSearch for more papers by this authorMontserrat Domènech, Montserrat Domènech Servei de Genètica, Hospital de la Santa Creu i Sant Pau, Barcelona, SpainSearch for more papers by this authorVirginie Moncoutier, Virginie Moncoutier Unit of Genetic Epidemiology, International Agency for Research of Cancer, Lyon, FranceSearch for more papers by this authorJosé Ignacio Martínez-Ferrandis, José Ignacio Martínez-Ferrandis Unité de Génétique Oncologique, Institute Curie, Paris, FranceSearch for more papers by this authorAna Osorio, Ana Osorio Instituto de Investigaciones Citológicas, Valencia, SpainSearch for more papers by this authorJudith Balmaña, Judith Balmaña Centro Nacional de Investigaciones Oncológicas, Madrid, SpainSearch for more papers by this authorAlicia Barroso, Alicia Barroso Instituto de Investigaciones Citológicas, Valencia, SpainSearch for more papers by this authorMaría Eugenia Armengod, María Eugenia Armengod Unité de Génétique Oncologique, Institute Curie, Paris, FranceSearch for more papers by this authorJavier Benítez, Javier Benítez Instituto de Investigaciones Citológicas, Valencia, SpainSearch for more papers by this authorCarmen Alonso, Carmen Alonso Centro Nacional de Investigaciones Oncológicas, Madrid, SpainSearch for more papers by this authorDominique Stoppa-Lyonnet, Dominique Stoppa-Lyonnet Unit of Genetic Epidemiology, International Agency for Research of Cancer, Lyon, FranceSearch for more papers by this authorDavid Goldgar, David Goldgar Servei d'Oncologia Mèdica, Hospital de la Santa Creu i Sant Pau, Barcelona, SpainSearch for more papers by this authorMontserrat Baiget, Montserrat Baiget Servei de Genètica, Hospital de la Santa Creu i Sant Pau, Barcelona, SpainSearch for more papers by this author First published: 19 March 2003 https://doi.org/10.1002/humu.9133Citations: 15 † Communicated by Mark H. Paalman ‡ Online Citation: Human Mutation, Mutation in Brief #604 (2002) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/604.pdf AboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Abstract A frame-shift 9254del5 mutation was independently identified in 12 families, eleven of them with Spanish ancestors, in a BRCA2 screening performed in 841 breast and/or ovarian cancer families and in 339 women with breast cancer diagnosed before the age of 40 at different centers in France and Spain. We sought to analyze in detail the haplotype and founder effects of the 9254del5 and to estimate the time of origin of the mutation. Eight polymorphic microsatellite markers and two BRCA2 polymorphisms were used for the haplotype analyses. The markers were located flanking the BRCA2 gene spanning a region of 6.1 cM. Our results suggest that these families shared a common ancestry with BRCA2 9254del5, which is a founder mutation originating in the Northeast Spanish, with an estimated age of 92 (95% CI 56-141) generations. © 2003 Wiley-Liss, Inc. Citing Literature Volume21, Issue4April 2003Pages 452-452 RelatedInformation