Gene

CHEK2

checkpoint kinase 2

Explore in graph →CI-GENE-00041224HGNC:16627 ENSG00000183765 NCBI 11200 CIViC Cancer geneApproved

Curated evidence

Clinical evidence (10)

CIViC items involving this gene, grouped by molecular profile and therapy, with native levels and directions. 50 items per page.

civicCuratedShowing 1–10 of 10 evidence items · levels, directions and significance as curated at the source; each row links to its CIViC record.

Therapy	Cancer	Type	Level	Direction · significance	Rating (1–5)	Status	Evidence	Source
CHEK2 1100DELC3
(prognostic)	Malignant Breast Neoplasm	Prognostic	B	Supports Poor Outcome	4	submitted	EID7235 CHECK2 1100DELC carriers (n=124) had an increased rate of contralateral breast cancer (multivariate hazard ratio 3.97, 95% confidence interval 2.59-6.07) and worse survival rates than non-carriers. T…

Cohorts

Alteration frequency by cohort (102)

Frequency = cases affected / cases profiled within one cohort. Cohorts are never pooled.

cbioportalObserved102 cohort rows (showing 2, sorted by frequency) · frequency = affected / profiled, as published by each cohort; cohorts are not pooled. Hover a row badge for its release.

Cohort	Mapped cancer	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Rank in cohort	Source
Pediatric Acute Myeloid Leukemia (St. Jude, Nat Genet 2024) aml_stjude_2024	Acute Myeloid Leukemia	Ssm

Literature

Linked publications (4)

25 per page, newest first.

pubmedPublishedShowing 1–4 of 4 publications · bibliographic data as recorded by PubMed; abstracts are not reproduced.

Olaparib for Metastatic Castration-Resistant Prostate Cancer.
· N Engl J Med · 2020 · PMID 32343890 · validated civic_curation pubmed
Heterozygous germ line hCHK2 mutations in Li-Fraumeni syndrome.
· Science · 1999 · PMID 10617473 · validated civic_curation pubmed
CHEK2 mutation and risk of prostate cancer: a systematic review and meta-analysis.
· Int J Clin Exp Med · 2015 · PMID 26629066 · validated civic_curation pubmed
Homozygous inactivation of CHEK2 is linked to a familial case of multiple primary lung cancer with accompanying cancers in other organs.
· Cold Spring Harb Mol Case Stud · 2016 · PMID 27900359 · validated civic_curation pubmed

CHEK2 I157T1
(predisposing)	Malignant Prostate Neoplasm	Predisposing	B	Supports Predisposition	3	accepted	EID1852 Meta-analysis of 4 retrospective studies linked CHEK2 I157T to a higher risk of prostate cancer (OR 1.80; 95% confidence interval: 1.51-2.14; P = 0.00). PMID 26629066 · Wang et al., 2015 · Open in CIViC	civic

CHEK2 I157T1

(predisposing)

Malignant Prostate Neoplasm

Predisposing

Supports Predisposition

accepted

EID1852

Meta-analysis of 4 retrospective studies linked CHEK2 I157T to a higher risk of prostate cancer (OR 1.80; 95% confidence interval: 1.51-2.14; P = 0.00).

PMID 26629066 · Wang et al., 2015 · Open in CIViC

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CHEK2 IVS2+1G>A1
(predisposing)	Malignant Prostate Neoplasm	Predisposing	B	Does Not Support Predisposition	2	accepted	EID1854 Meta-analysis of 2 studies of CHEK2 and prostate cancer showing that the IVS2+1G>A mutation is irrelevant as a predictor of prostate cancer. PMID 26629066 · Wang et al., 2015 · Open in CIViC	civic

CHEK2 IVS2+1G>A1

(predisposing)

Malignant Prostate Neoplasm

Predisposing

Does Not Support Predisposition

accepted

EID1854

Meta-analysis of 2 studies of CHEK2 and prostate cancer showing that the IVS2+1G>A mutation is irrelevant as a predictor of prostate cancer.

PMID 26629066 · Wang et al., 2015 · Open in CIViC

civic

CHEK2 Loss-of-function1
(predisposing)	Malignant NeoplasmALIAS	Predisposing	B	Supports Predisposition	5	accepted	EID531 Heterozygous germline truncating (frameshift) and missense mutations confer highly penetrant predisposition to multiple cancer types including sarcoma, breast cancer, and brain tumors. Screening of in… (full text at CIViC) PMID 10617473 · Bell et al., 1999 · Open in CIViC	civic

CHEK2 Loss-of-function1

(predisposing)

Malignant NeoplasmALIAS

Predisposing

Supports Predisposition

accepted

EID531

Heterozygous germline truncating (frameshift) and missense mutations confer highly penetrant predisposition to multiple cancer types including sarcoma, breast cancer, and brain tumors. Screening of in… (full text at CIViC)

PMID 10617473 · Bell et al., 1999 · Open in CIViC

civic

CHEK2 mutation2
Olaparib	Castration-Resistant Prostate Carcinoma	Predictive	A	Supports Sensitivity Response	3	accepted	EID11205 This randomized, open-label, phase 3 trial evaluated the PARP inhibitor olaparib in 387 men with metastatic castration-resistant prostate cancer (mCRPC) who had disease progression while receiving a n… (full text at CIViC) PMID 32343890 · de Bono et al., 2020 · Open in CIViC	civic
Enzalutamide + TalazoparibCombination	Castration-Resistant Prostate Carcinoma	Predictive	B	Does Not Support Sensitivity Response	1	submitted	EID11737 This phase 3 study evaluated the PARP inhibitor talazoparib in combination with the androgen receptor inhibitor enzalutamide as a first-line treatment in patients with metastatic castration-resistant… (full text at CIViC) PMID 38049622 · Fizazi et al., 2024 · Open in CIViC	civic

CHEK2 mutation2

Olaparib

Castration-Resistant Prostate Carcinoma

Predictive

Supports Sensitivity Response

accepted

EID11205

This randomized, open-label, phase 3 trial evaluated the PARP inhibitor olaparib in 387 men with metastatic castration-resistant prostate cancer (mCRPC) who had disease progression while receiving a n… (full text at CIViC)

PMID 32343890 · de Bono et al., 2020 · Open in CIViC

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Enzalutamide + TalazoparibCombination

Castration-Resistant Prostate Carcinoma

Predictive

Does Not Support Sensitivity Response

submitted

EID11737

This phase 3 study evaluated the PARP inhibitor talazoparib in combination with the androgen receptor inhibitor enzalutamide as a first-line treatment in patients with metastatic castration-resistant… (full text at CIViC)

PMID 38049622 · Fizazi et al., 2024 · Open in CIViC

civic

CHEK2 R474C c.1420C>T2
(predisposing)	Malignant NeoplasmALIAS	Predisposing	C	Supports Predisposition	3	accepted	EID7962 Siblings (brother and sister) each were diagnosed with multiple primary lung cancer at the age of 60, along with various other cancers in their lifetimes. Homozygosity mapping revealed their parents (… (full text at CIViC) PMID 27900359 · Kukita et al., 2016 · Open in CIViC	civic
(functional)	—UNRESOLVED	Functional	D	Supports Loss Of Function	3	submitted	EID10064 NIH3T3 cells were transfected with mutant (R474C) or wild-type (WT) CHEK2. Expression and phosphorylation of CHEK2 was measured following UV light exposure to include DNA damage. The mutant was poorly… (full text at CIViC) PMID 27900359 · Kukita et al., 2016 · Open in CIViC	civic

CHEK2 R474C c.1420C>T2

(predisposing)

Malignant NeoplasmALIAS

Predisposing

Supports Predisposition

accepted

EID7962

Siblings (brother and sister) each were diagnosed with multiple primary lung cancer at the age of 60, along with various other cancers in their lifetimes. Homozygosity mapping revealed their parents (… (full text at CIViC)

PMID 27900359 · Kukita et al., 2016 · Open in CIViC

civic

(functional)

—UNRESOLVED

Functional

Supports Loss Of Function

submitted

EID10064

NIH3T3 cells were transfected with mutant (R474C) or wild-type (WT) CHEK2. Expression and phosphorylation of CHEK2 was measured following UV light exposure to include DNA damage. The mutant was poorly… (full text at CIViC)

PMID 27900359 · Kukita et al., 2016 · Open in CIViC

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