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Germline mutations in apoptosis pathway genes in ovarian cancer; the functional role of a TP53I3 (PIG3) variant in ROS production and DNA repair

Approximately 25% of all cases of ovarian cancer (OVCA) cases are associated with inherited risk. However, accurate risk assessment is limited by the presence of variants of unknown significance (VUS). Previously, we performed whole-exome sequencing on 48 OVCA patients with familial predisposition,...

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Detalles Bibliográficos
Autores principales: Chaudhry, Sophia R., Lopes, Jaime, Levin, Nancy K., Kalpage, Hasini, Tainsky, Michael A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8007802/
https://www.ncbi.nlm.nih.gov/pubmed/33782397
http://dx.doi.org/10.1038/s41420-021-00442-y