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BRCA1 5272-1G>A and BRCA2 5374delTATG are founder mutations of high relevance for genetic counselling in breast/ovarian cancer families of Spanish origin

AuthorsInfante, Mar ; Durán, Mercedes ; Acedo, Alberto ; Pérez-Cabornero, Lucía ; Sanz, David J.; Tejada, María Isabel; Miner, Cristina ; Velasco, Eladio
Breast cancer
Founder mutations
Ovarian cancer
Issue DateJan-2010
PublisherJohn Wiley & Sons
CitationClinical Genetics 77(1): 60-69 (2010)
AbstractThe distribution of BRCA1 and BRCA2 germ line mutations in breast/ovarian cancer families varies among different populations, which typically present a wide spectrum of unique mutations. Splicing mutation 5272-1G>A of BRCA1 and frameshift mutation 5374delTATG of BRCA2 are highly prevalent mutations in Castilla-León (Spain), accounting for 18.4% and 13.6% of BRCA1 and BRCA2 positive families, respectively. To test the presence of founder effects, 9 Spanish 5272-1G>A and 13 5374delTATG families were genotyped with polymorphic markers linked to BRCA1 or BRCA2. All the 5272-1G>A families shared a common haplotype in eight markers (1.1 Mb region) and the mutation age was estimated in 15 generations (∼380 years). A conserved haplotype associated to 5374delTATG was observed in four markers (0.82 Mb). The mutation occurred approximately 48 generations ago (∼1200 years). Each mutation likely arose from a common ancestor that could be traced to a small area of Castilla-León and expanded to other Spanish regions. They can have a significant impact on the clinical management of asymptomatic carriers as well as on the genetic screening strategy to be followed in populations with Spanish ancestries.
Description10 páginas, 3 figuras, 3 tablas.-- et al.-- El pdf del artículo es la versión post-print.
Publisher version (URL)http://dx.doi.org/10.1111/j.1399-0004.2009.01272.x
Appears in Collections:(IBGM) Artículos
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