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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Bibliographic Details
Main Authors: Timo A Kumpula, Sandra Vorimo, Taneli T Mattila, Luke O'Gorman, Galuh Astuti, Anna Tervasmäki, Susanna Koivuluoma, Tiina M Mattila, Mervi Grip, Robert Winqvist, Outi Kuismin, Jukka Moilanen, Alexander Hoischen, Christian Gilissen, Tuomo Mantere, Katri Pylkäs
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2023-08-01
Series:PLoS Genetics
Online Access:https://doi.org/10.1371/journal.pgen.1010889