Article
Double CHEK2 Pathogenic and Low-Risk Variants and Associated Cancer Phenotypes.
JAMA network open - 2 Jan 2025
Bychkovsky Brittany L, Agaoglu Nihat B, Horton Carolyn, Polfus Linda, Richardson Marcy E, Young Colin, Scheib Rochelle, Garber Judy E, Rana Huma Q
Abstract excerpt
Importance: CHEK2 pathogenic and likely pathogenic variants (PVs) are common, and low-risk (LR) variants, p.I157T, p.S428F, and p.T476M, are even more common. Biallelic CHEK2 PVs are associated with specific cancer phenotypes, including early age at onset of breast cancers. Whether biallelic LR variants are associated with cancer predisposition is unknown. Objective: To characterize the cancer phenotype among...
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