Breast cancer genomes from CHEK2 c.1100delC mutation carriers lack somatic TP53 mutations and display a unique structural variant size distribution profile

BACKGROUND: CHEK2 c.1100delC was the first moderate-risk breast cancer (BC) susceptibility allele discovered. Despite several genomic, transcriptomic and functional studies, however, it is still unclear how exactly CHEK2 c.1100delC promotes tumorigenesis. Since the mutational landscape of a tumor re...

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Detalles Bibliográficos
Autores principales: Smid, Marcel, Schmidt, Marjanka K., Prager-van der Smissen, Wendy J. C., Ruigrok-Ritstier, Kirsten, Schreurs, Maartje A. C., Cornelissen, Sten, Garcia, Aida Marsal, Broeks, Annegien, Timmermans, A. Mieke, Trapman-Jansen, Anita M. A. C., Collée, J. Margriet, Adank, Muriel A., Hooning, Maartje J., Martens, John W. M., Hollestelle, Antoinette
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10169359/
https://www.ncbi.nlm.nih.gov/pubmed/37161532
http://dx.doi.org/10.1186/s13058-023-01653-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10169359/
https://www.ncbi.nlm.nih.gov/pubmed/37161532
http://dx.doi.org/10.1186/s13058-023-01653-0

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