Exome sequencing identified rare recurrent copy number variants and hereditary breast cancer susceptibility

Copy number variants (CNVs) are a major source of genetic variation and can disrupt genes or affect gene dosage. They are known to be causal or underlie predisposition to various diseases. However, the role of CNVs in inherited breast cancer susceptibility has not been thoroughly investigated. To ad...

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Detalles Bibliográficos
Autores principales: Kumpula, Timo A., Vorimo, Sandra, Mattila, Taneli T., O’Gorman, Luke, Astuti, Galuh, Tervasmäki, Anna, Koivuluoma, Susanna, Mattila, Tiina M., Grip, Mervi, Winqvist, Robert, Kuismin, Outi, Moilanen, Jukka, Hoischen, Alexander, Gilissen, Christian, Mantere, Tuomo, Pylkäs, Katri
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2023
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10449128/
https://www.ncbi.nlm.nih.gov/pubmed/37578974
http://dx.doi.org/10.1371/journal.pgen.1010889

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