Article
Two new CHEK2 germ-line variants detected in breast cancer/sarcoma families negative for BRCA1, BRCA2, and TP53 gene mutations.
Breast cancer research and treatment - 1 Nov 2011
Manoukian Siranoush, Peissel Bernard, Frigerio Simona, Lecis Daniele, Bartkova Jirina, Roversi Gaia, Radice Paolo, Bartek Jiri, Delia Domenico
Abstract excerpt
CHEK2 gene mutations occur in a subset of patients with familial breast cancer, acting as moderate/low penetrance cancer susceptibility alleles. Although CHEK2 is no longer recognized as a major determinant of the Li-Fraumeni syndrome, a hereditary condition predisposing to cancer at multiple sites, it cannot be ruled out that mutations of this gene play a role in malignancies arising in peculiar multi-cancer...
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