Genomic Breakpoints’ Characterization of a Large CHEK2 Duplication in an Italian Family with Hereditary Breast Cancer

CHEK2 (checkpoint kinase 2; MIM# 604373) is a tumor suppressor gene that encodes a serine threonine kinase involved in pathways such as DNA repair, cell cycle arrest, mitosis, and apoptosis. Pathogenic variants in CHEK2 contribute to a moderately increased risk of breast and other cancers. Several v...

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Detalles Bibliográficos
Autores principales: Germani, Aldo, Guadagnolo, Daniele, Salvati, Valentina, Micolonghi, Caterina, Mancini, Rita, Mastromoro, Gioia, Sadeghi, Soha, Petrucci, Simona, Pizzuti, Antonio, Piane, Maria
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9319214/
https://www.ncbi.nlm.nih.gov/pubmed/35885426
http://dx.doi.org/10.3390/diagnostics12071520

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9319214/
https://www.ncbi.nlm.nih.gov/pubmed/35885426
http://dx.doi.org/10.3390/diagnostics12071520

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