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

✍ Scribed by Berta Campos; Orland Díez; Fabrice Odefrey; Montserrat Domènech; Virginie Moncoutier; José Ignacio Martínez-Ferrandis; Ana Osorio; Judith Balmaña; Alicia Barroso; María Eugenia Armengod; Javier Benítez; Carmen Alonso; Dominique Stoppa-Lyonnet; David Goldgar; Montserrat Baiget

Publisher
John Wiley and Sons
Year
2003
Tongue
English
Weight
36 KB
Volume
21
Category
Article
ISSN
1059-7794

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✦ Synopsis

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.

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