The BRCA1 c.4096+3A>G Variant Displays Classical Characteristics of Pathogenic BRCA1 Mutations in Hereditary Breast and Ovarian Cancers, But Still Allows Homozygous Viability

Mutations in BRCA1 result in predisposal to breast and ovarian cancers, but many variants exist with unknown clinical significance (VUS). One is BRCA1 c.4096+3A>G, which affects production of the full-length BRCA1 transcript, while augmenting transcripts lacking most or all of exon 11. Nonetheles...

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Vydáno v:Genes (Basel)
Hlavní autoři: Arason, Adalgeir, Agnarsson, Bjarni A, Johannesdottir, Gudrun, Johannsson, Oskar Th, Hilmarsdottir, Bylgja, Reynisdottir, Inga, Barkardottir, Rosa B
Médium: Artigo
Jazyk:Inglês
Vydáno: MDPI 2019
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Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6896150/
https://ncbi.nlm.nih.gov/pubmed/31683985
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/genes10110882
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