Diagnostic mRNA splicing assay for variants in BRCA1 and BRCA2 identified two novel pathogenic splicing aberrations

BACKGROUND: Pathogenic variants in BRCA1 and BRCA2 cause hereditary breast and ovarian cancer. Screening of these genes has become easily accessible in diagnostic laboratories. Sequencing and copy number analyses are used to detect pathogenic variants, but also lead to identification of variants of...

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Detalles Bibliográficos
Autores principales: Wangensteen, Teresia, Felde, Caroline Nangota, Ahmed, Deeqa, Mæhle, Lovise, Ariansen, Sarah Louise
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6532242/
https://www.ncbi.nlm.nih.gov/pubmed/31143303
http://dx.doi.org/10.1186/s13053-019-0113-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6532242/
https://www.ncbi.nlm.nih.gov/pubmed/31143303
http://dx.doi.org/10.1186/s13053-019-0113-9

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