Gene Information
checkpoint kinase 2 [Source:HGNC Symbol;Acc:HGNC:16627]
CHEK2 variants are associated with 5 diseases including bone osteosarcoma and Li-Fraumeni syndrome and 3 others, with 12 documented clinical phenotypes.
The CHEK2 gene is associated with 5 medical conditions, including:
Research has identified 12 phenotypic features associated with CHEK2 variants:
Prostate cancer
HP:0012125
Sarcoma
HP:0100242
Osteosarcoma
HP:0002669
Retinoblastoma
HP:0009919
Typified by somatic mosaicism
HP:0001442
Meningioma
HP:0002858
Autosomal dominant inheritance
HP:0000006
Breast carcinoma
HP:0003002
Autosomal dominant inheritance
HP:0000006
Stomach cancer
HP:0012126
Glioma
HP:0009733
Typified by somatic mosaicism
HP:0001442
ClinVar contains 10 variants associated with CHEK2. Below are some notable variants:
NM_007194.4(CHEK2):c.1312del (p.Asp438fs)
PathogenicVCV004294199
Review: criteria provided, single submitter
NM_007194.4(CHEK2):c.969del (p.Cys324fs)
PathogenicVCV004294163
Review: criteria provided, single submitter
NM_007194.4(CHEK2):c.684-86A>G
Likely benignVCV004280722
Review: criteria provided, single submitter
GRCh37/hg19 22q12.1(chr22:28941617-29145805)x1
PathogenicVCV004279335
Review: criteria provided, single submitter
NM_007194.4(CHEK2):c.1009-87del
Likely pathogenicVCV004279034
Review: criteria provided, single submitter
There are 1,125 publications about CHEK2 indexed in PubMed. Below are some recent papers:
Beyond the nucleus: the ATM-CHEK2 axis senses mtROS to orchestrate Mitophagy.
Guo QQ, Song XY, Cao L
PMID: 41257485
•
2025 Nov 19
•
Autophagy
Evaluating the Role of Liquid Biopsy to Detect Pathogenic Homologous Recombination Repair (HRR) Gene Alterations in Metastatic Prostate Cancer.
Labidi S, Jiao B, Tam S
PMID: 41228221
•
2025 Oct 25
•
Cancers (Basel)
Methionine deficiency causes spermatogonial apoptosis via oxidative stress and DNA damage response pathway.
Wang W, Ruan Y, Ting G
PMID: 41219782
•
2025 Nov 12
•
Biol Res
Integrating Pathogenic Variants, Polygenic Risk Score, and Family History for Prostate Cancer Risk Estimation in Men of African Ancestry.
Chen F, Sheng X, Wang A
PMID: 41219045
•
2025 Nov 5
•
Eur Urol
CHEK2 variants, breast cancer, and implications for management: a narrative review.
Conde DM
PMID: 41210647
•
2025
•
Transl Breast Cancer Res
Get instant, comprehensive insights on CHEK2 variants with Perception.
Trusted Data Sources
Last updated: 11/20/2025