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Title

¿Cuándo aparecieron las mutaciones que predisponen a cáncer de mama y ovario hereditario en Castilla y León?

AuthorsInfante, Mar
Issue Date2015
PublisherUniversidad de Valladolid
CitationFemina: Mujeres en la Historia: 203-215 (2015)
Abstract[EN]: Mutations in the two major susceptibility genes: BRCA1 and BRCA2 are responsible of 15–20% of all hereditary breast cancer cases. More than 3500 distinct DNA changes, which are spread throughout entire coding and flanking intronic regions of BRCA1/BRCA2 genes have been characterized. There are some variants that predominate in certain ethnic or population groups as a result of a founder effect originating from a common ancestor. One BRCA1 mutation and three BRCA2 mutations are founder in East region of Castilla y León (CyL) accounting for over 25% of BRCA positive families. To verify the presence of founder effects, Spanish families harboring these mutations were genotyped with polymorphic markers linked to BRCA1 or BRCA2 to identify a common haplotype with the shared region. The conserved haplotype was used to estimate when the mutation likely arose. By contrast, the most reported BRCA2 mutation in CyL, was founded in three independent haplotypes, supporting the hypothesis that the mutation is located in a mutation hotspot region of the gene. The identification of recurrent mutations contributes to clarify the workflow to launch in Spanish families, reducing costs and accelerating the diagnosis in high risk families. We have defined a panel of Spanish founder mutations that would identify nearly 38% of BRCA positive families. Furthermore, founder mutations are useful to detect rapidly asymptomatic carriers who may benefit from prevention protocols since survival rates of breast cancer are worse than in older women.
URIhttp://hdl.handle.net/10261/159079
Identifiersisbn: 978-84-8448-834-7
Appears in Collections:(IBGM) Libros y partes de libros
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