A novel frequent BRCA1 recurrent variant c.5117G > A (p.Gly1206Glu) identified after 20 years of BRCA1/2 research in the Baltic region: cohort study and literature review

BACKGROUND: Several recent studies in the Baltic region have found extended spectrum of pathogenic variants (PV) of the BRCA1/2 genes. The aim of current study is to analyze the spectrum of the BRCA1/2 PV in population of Latvia and to compare common PV between populations of the Baltic region. METH...

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Detalles Bibliográficos
Autores principales: Loza, P., Irmejs, A., Daneberga, Z., Miklasevics, E., Berga-Svitina, E., Subatniece, S., Maksimenko, J., Trofimovics, G., Tauvena, E., Ukleikins, S., Gardovskis, J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7814703/
https://www.ncbi.nlm.nih.gov/pubmed/33468216
http://dx.doi.org/10.1186/s13053-021-00168-z

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