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Two founder BRCA2 mutations predispose to breast cancer in young women

AuthorsInfante, Mar ; Durán, Mercedes ; Acedo, Alberto ; Sanz, David J.; Pérez-Cabornero, Lucía ; Miner, Cristina ; Velasco, Eladio
Founder mutations
Hereditary breast cancer
Issue DateJul-2010
CitationBreast Cancer Research and Treatment 122(2): 567-571 (2010)
AbstractThe mutation spectrum of BRCA1 and BRCA2 presents a wide range of unique mutations in breast/ovarian cancer patients but recurrent mutations with founder effects have also been described. BRCA2 5344delAATA and 9538delAA are recurrent mutations in Castilla-Leo´n (Spain) representing 10.6% of BRCA2 positive families. By genotyping eleven chromosome 13 markers (4.3 Mb) we demonstrate that each mutation shows core haplotypes of 1.66 and 0.87 Mb, respectively, supporting a common ancestor in Castilla-Leo´n. Furthermore, both mutations are associated with earlier onset of breast cancer (5344delAATA: 37.4 years, P = 0.033; 9538delAA: 39.4 years, P = 0.008). The identification of founder effects improves the genetic screening strategy to be followed and facilitates the clinical management of asymptomatic carriers.
Description5 páginas, 1 figura, 1 tabla.-- et al.-- El pdf del artículo es el manuscrito de autor.
Publisher version (URL)http://dx.doi.org/10.1007/s10549-009-0661-1
Appears in Collections:(IBGM) Artículos
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