Identification of a Splice Variant (c.5074+3A>C) of BRCA1 by RNA Sequencing and TOPO Cloning

Grading the pathogenicity of BRCA1/2 variants has great clinical importance in patient treatment as well as in the prevention and screening of hereditary breast and ovarian cancer (HBOC). For accurate evaluation, confirming the splicing effect of a possible splice site variant is crucial. We report...

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Detalhes bibliográficos
Publicado no:Genes (Basel)
Main Authors: Hong, Jinyoung, Kim, Ji Hyun, Ahn, Se Hee, Gu, Hyunjung, Chang, Suhwan, Lee, Woochang, Kim, Dae-Yeon, Chun, Sail, Min, Won-Ki
Formato: Artigo
Idioma:Inglês
Publicado em: MDPI 2021
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8229931/
https://ncbi.nlm.nih.gov/pubmed/34073420
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/genes12060810
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