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Clinical utility of testing for PALB2 and CHEK2 c.1100delC in breast and ovarian cancer

PURPOSE: To investigate the contribution of PALB2 pathogenic gene variants (PGVs, PALB2_PGV) and the CHEK2 c.1100delC (CHEK2_1100delC) PGV to familial breast and ovarian cancer, and PALB2_PGV associated breast cancer pathology. METHODS: Outcomes of germline PALB2_PGV and CHEK2_1100delC testing were...

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Detalles Bibliográficos
Autores principales: Woodward, Emma R., van Veen, Elke M., Forde, Claire, Harkness, Elaine F., Byers, Helen J., Ellingford, Jamie M., Burghel, George J., Schlech, Helene, Bowers, Naomi L., Wallace, Andrew J., Howell, Sacha J., Howell, Anthony, Lalloo, Fiona, Newman, William G., Smith, Miriam J., Gareth Evans, D.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group US 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8486655/
https://www.ncbi.nlm.nih.gov/pubmed/34113003
http://dx.doi.org/10.1038/s41436-021-01234-6