BRCA1 intronic Alu elements drive gene rearrangements and PARP inhibitor resistance

BRCA1 intronic Alu elements drive gene rearrangements and PARP inhibitor resistance

BRCA1 mutations located within the BRCT domain result in proteasomal degradation and sensitivity to PARP inhibitors (PARPi). Here, the authors report genetic rearrangements in the BRCA1 gene that generate a BRCT-less BRCA1 protein isoform, which avoids degradation and leads to PARPi resistance.

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Detalles Bibliográficos
Autores principales: Yifan Wang, Andrea J. Bernhardy, Joseph Nacson, John J. Krais, Yin-Fei Tan, Emmanuelle Nicolas, Marc R. Radke, Elizabeth Handorf, Alba Llop-Guevara, Judith Balmaña, Elizabeth M. Swisher, Violeta Serra, Suraj Peri, Neil Johnson
Formato: article
Lenguaje:EN
Publicado: Nature Portfolio 2019
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Science
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Acceso en línea:https://doaj.org/article/67c22e7b21e74d119a7920f907472b4a
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Descripción
Sumario:BRCA1 mutations located within the BRCT domain result in proteasomal degradation and sensitivity to PARP inhibitors (PARPi). Here, the authors report genetic rearrangements in the BRCA1 gene that generate a BRCT-less BRCA1 protein isoform, which avoids degradation and leads to PARPi resistance.

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