Gene affected:
checkpoint kinase 2

Clinical significance
Germline mutations in CHEK2 have been shown to increase the risk of many non-haematological malignancies, in particular breast cancer. There are also a slight association with certain haematological malignancies although the prognostic significance is uncertain.

Function of gene

CHEK2 acts as a tumor suppressor and is involved in DNA repair, cell cycle arrest or apoptosis in response to DNA damage

NGS panel gene coverage

Full coverage


MPN (15% of ET and PRV)
Generally a germline mutation although somatic mutations have also rarely been documented. No prognostic implications have been identified.
Other haematology malignancies
CHEK2 mutation has been detected in AML, MDS, CLL and other lymphoid malignancies, although the incidence or implications of this are yet to be certain.


GeneWiki link:

Gene Wiki entry for CHEK2


1. Action of CHEK2 in MPD