CHEK2 mutation and increased risk of breast cancer

CHEK2 mutation and increased risk of breast cancer

OMIM number: 604373

Comments closing date: 14/04/2025

Checkpoint kinase 2 is a serine/threonine protein
kinase encoded by the CHEK2 gene involved in
cellular responses to genotoxic stress. CHEK2
mutation is known to predispose to breast,
prostate and kidney cancer. There is also
evidence suggesting an increased risk of
developing colorectal cancers, papillary thyroid
carcinoma, melanoma, endometrial, testicular, and
male breast cancers, as well as some leukemias
and lymphomas.

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