首页 | 本学科首页   官方微博 | 高级检索  
     


Haplotype analysis of the BRCA2 9254delATCAT recurrent mutation in breast/ovarian cancer families from Spain
Authors:Campos Berta  Díez Orland  Odefrey Fabrice  Domènech Montserrat  Moncoutier Virginie  Martínez-Ferrandis José Ignacio  Osorio Ana  Balmaña Judith  Barroso Alicia  Armengod María Eugenia  Benítez Javier  Alonso Carmen  Stoppa-Lyonnet Dominique  Goldgar David  Baiget Montserrat
Affiliation:Servei de Genètica, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.
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.
Keywords:BRCA2  hereditary breast cancer  haplotype  founder mutation
本文献已被 PubMed 等数据库收录!
设为首页 | 免责声明 | 关于勤云 | 加入收藏

Copyright©北京勤云科技发展有限公司  京ICP备09084417号