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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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Dettagli Bibliografici
Pubblicato in:Cancers (Basel)
Autori principali: Møller, Pål, Dominguez-Valentin, Mev, Rødland, Einar Andreas, Hovig, Eivind
Natura: Artigo
Lingua:Inglês
Pubblicazione: MDPI 2019
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC6406718/
https://ncbi.nlm.nih.gov/pubmed/30678073
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/cancers11020132
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