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

<i>CHEK2</i> (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 <i>CHEK2</i> contribute to a moderately increased risk of breast and other canc...

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Hauptverfasser:	Aldo Germani, Daniele Guadagnolo, Valentina Salvati, Caterina Micolonghi, Rita Mancini, Gioia Mastromoro, Soha Sadeghi, Simona Petrucci, Antonio Pizzuti, Maria Piane
Format:	Artigo
Sprache:	Inglês
Veröffentlicht:	MDPI AG 2022-06-01
Schriftenreihe:	Diagnostics
Schlagworte:	<i>CHEK2</i> hereditary breast cancer intragenic duplication large rearrangement
Online-Zugang:	https://www.mdpi.com/2075-4418/12/7/1520
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