CHEK2, checkpoint kinase 2, 11200

N. diseases: 297; N. variants: 261
Disease: Breast Cancer, Familial ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		0.400 Biomarker disease CLINGEN DNA damage-induced activation of p53 by the checkpoint kinase Chk2. 10710310 2000
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		0.400 Biomarker disease CLINGEN hCds1-mediated phosphorylation of BRCA1 regulates the DNA damage response. 10724175 2000
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		0.400 Biomarker disease BEFREE The high Ile(157)--> Thr(157)mutation frequency (6.5%) observed in healthy controls and the lack of other mutations suggest that CHK2 does not contribute significantly to the hereditary breast cancer or LFL-associated breast cancer risk, at least not in the Finnish population. 11461078 2001
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		0.400 Biomarker disease CLINGEN Concomitant inactivation of p53 and Chk2 in breast cancer. 11857075 2002
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		0.400 GeneticVariation disease BEFREE A CHEK2 genetic variant contributing to a substantial fraction of familial breast cancer. 12094328 2002
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		0.400 Biomarker disease CLINGEN A CHEK2 genetic variant contributing to a substantial fraction of familial breast cancer. 12094328 2002
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		0.400 GeneticVariation disease BEFREE Recently, the CHEK 2 gene, involved in DNA damage and replication checkpoints, has been pointed out as a good candidate; moreover, a specific variant in this gene,1100delC, has been found to increase breast cancer susceptibility among familial breast cancer cases not attributable to mutations in BRCA1 or BRCA2 genes. 14618615 2004
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		0.400 GeneticVariation disease BEFREE The low prevalence and penetrance of the exon 10 deletion mutations together with no, or an uncertain elevation in risk for other CHEK2 mutations suggests a limited relevance for CHEK2 mutations in familial breast cancer. 15095295 2004
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		0.400 Biomarker disease BEFREE Here, we briefly outline the molecular properties, regulation and physiological role of CHEK2, and review in more detail its defects that predispose to tumors, with particular emphasis on familial breast cancer. 16998506 2006
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		0.400 GeneticVariation disease BEFREE CHEK2 1100delC is prevalent in Swedish early onset familial breast cancer. 17705858 2007
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		0.400 GeneticVariation disease BEFREE Breast cancer low-penetrance allele 1100delC in the CHEK2 gene: not present in the Chinese familial breast cancer population. 18484200 2008
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		0.400 GeneticVariation disease BEFREE CHEK2 1100delC was genotyped in the index cases of 369 Dutch colorectal cancer families that had been excluded for familial breast cancer. 18676774 2008
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		0.400 GeneticVariation disease BEFREE Mutations in the recognized breast cancer susceptibility genes BRCA1, BRCA2, TP53, ATM, and CHEK2 account for approximately 20% of hereditary breast cancer. 21409391 2011
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		0.400 Biomarker disease CLINGEN Breast tumors from CHEK2 1100delC-mutation carriers: genomic landscape and clinical implications. 21542898 2011
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		0.400 GeneticVariation disease BEFREE CHEK2 gene mutations occur in a subset of patients with familial breast cancer, acting as moderate/low penetrance cancer susceptibility alleles. 21562711 2011
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		0.400 Biomarker disease CLINGEN Risk of breast cancer in women with a CHEK2 mutation with and without a family history of breast cancer. 21876083 2011
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		0.400 GeneticVariation disease BEFREE We investigated the contribution of CHEK2 mutations to non-BRCA HBC by direct sequencing of its whole coding sequence in 507 non-BRCA HBC cases and 513 controls. 22114986 2011
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		0.400 GeneticVariation disease BEFREE Response to DNA damage of CHEK2 missense mutations in familial breast cancer. 22419737 2012
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		0.400 GeneticVariation disease BEFREE Genotyping for the CHEK2∗1100delC mutation in a familial breast cancer setting contributes to optimal clinical surveillance in countries in which this mutation is prevalent. 23415889 2013
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		0.400 GeneticVariation disease BEFREE We conclude that the tumor-specific loss of the wild-type allele is not characteristic for BC arising in CHEK2, NBN/NBS1 and BLM mutation carriers. 24415413 2014
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		0.400 GeneticVariation disease BEFREE Germ line CHEK2 mutations are seen in a subset of patients with a familial breast cancer and sarcoma phenotype. 24595525 2014
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		0.400 Biomarker disease CLINGEN A risk of breast cancer in women - carriers of constitutional CHEK2 gene mutations, originating from the North - Central Poland. 24713400 2014
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		0.400 GeneticVariation disease BEFREE First evidence of a large CHEK2 duplication involved in cancer predisposition in an Italian family with hereditary breast cancer. 24986639 2014
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		0.400 Biomarker disease BEFREE One gene that is commonly included on NGS hereditary breast cancer panels is CHEK2. 25355026 2014
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		0.400 GeneticVariation disease BEFREE However, only about 20% of familial breast cancer is attributed to mutations in BRCA1 and BRCA2, while a further 5-10% are attributed to mutations in other rare susceptibility genes such as TP53, STK11, PTEN, ATM and CHEK2. 25736863 2015