High-throughput functional evaluation of BRCA2 variants of unknown significance

Many germline variants are found in the BRCA2 gene, some of which pre-dispose women to breast and ovarian cancer. Here, the authors develop a method to determine the functional significance of BRCA2 variants and show that it is comparable to the IARC system of classifying variants.

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Autores principales: Masachika Ikegami, Shinji Kohsaka, Toshihide Ueno, Yukihide Momozawa, Satoshi Inoue, Kenji Tamura, Akihiko Shimomura, Noriko Hosoya, Hiroshi Kobayashi, Sakae Tanaka, Hiroyuki Mano
Formato: article
Lenguaje:EN
Publicado: Nature Portfolio 2020
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Acceso en línea:https://doaj.org/article/232e6a0f6eaf4785a36ff58421838450
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