Causes for Frequent Pathogenic BRCA1 Variants Include Low Penetrance in Fertile Ages, Recurrent De-Novo Mutations and Genetic Drift

Background: We have previously demonstrated that the Norwegian frequent pathogenic BRCA1 (path_BRCA1) variants are caused by genetic drift and recurrent de-novo mutations. We here examined the penetrance of frequent path_BRCA1 variants in fertile ages as a surrogate marker for fitness. Material and...

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Detalles Bibliográficos
Autores principales: Møller, Pål, Dominguez-Valentin, Mev, Rødland, Einar Andreas, Hovig, Eivind
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2019
Materias:
Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6406718/
https://www.ncbi.nlm.nih.gov/pubmed/30678073
http://dx.doi.org/10.3390/cancers11020132

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6406718/
https://www.ncbi.nlm.nih.gov/pubmed/30678073
http://dx.doi.org/10.3390/cancers11020132

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