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Evolutionary Origin of Human PALB2 Germline Pathogenic Variants

PALB2 (Partner and localizer of BRCA2) is crucial for repairing DNA double-stranded breaks (DSBs) through homologous recombination (HR). Germline pathogenic variation in PALB2 disrupts DNA damage repair and increases the risk of Fanconi Anemia, breast cancer, and ovarian cancer. Determination of the...

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Detalles Bibliográficos
Autores principales: Chian, Jia Sheng, Li, Jiaheng, Wang, San Ming
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10379391/
https://www.ncbi.nlm.nih.gov/pubmed/37511102
http://dx.doi.org/10.3390/ijms241411343