CHEK2, checkpoint kinase 2, 11200

N. diseases: 297; N. variants: 261
Disease: Malignant neoplasm of breast ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908698
rs121908698
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0006142
Disease:
Malignant neoplasm of breast 		T 0.700 CausalMutation CLINVAR Gene panel sequencing in familial breast/ovarian cancer patients identifies multiple novel mutations also in genes others than BRCA1/2. 27616075 2017
dbSNP: rs121908698
rs121908698
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0006142
Disease:
Malignant neoplasm of breast 		T 0.700 CausalMutation CLINVAR Hereditary truncating mutations of DNA repair and other genes in BRCA1/BRCA2/PALB2-negatively tested breast cancer patients. 26822949 2016
dbSNP: rs121908698
rs121908698
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0006142
Disease:
Malignant neoplasm of breast 		T 0.700 CausalMutation CLINVAR Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer. 27153395 2016
dbSNP: rs121908698
rs121908698
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0006142
Disease:
Malignant neoplasm of breast 		T 0.700 GeneticVariation CLINVAR CHEK2 mutations and the risk of papillary thyroid cancer. 25583358 2015
dbSNP: rs121908698
rs121908698
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0006142
Disease:
Malignant neoplasm of breast 		A 0.700 GeneticVariation CLINVAR Association of Germline CHEK2 Gene Variants with Risk and Prognosis of Non-Hodgkin Lymphoma. 26506619 2015
dbSNP: rs121908698
rs121908698
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0006142
Disease:
Malignant neoplasm of breast 		A 0.700 GeneticVariation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
dbSNP: rs121908698
rs121908698
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0006142
Disease:
Malignant neoplasm of breast 		T 0.700 GeneticVariation CLINVAR A risk of breast cancer in women - carriers of constitutional CHEK2 gene mutations, originating from the North - Central Poland. 24713400 2014
dbSNP: rs121908698
rs121908698
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0006142
Disease:
Malignant neoplasm of breast 		T 0.700 CausalMutation CLINVAR Risk of breast cancer in women with a CHEK2 mutation with and without a family history of breast cancer. 21876083 2011
dbSNP: rs121908698
rs121908698
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0006142
Disease:
Malignant neoplasm of breast 		T 0.700 GeneticVariation CLINVAR Risk of breast cancer in women with a CHEK2 mutation with and without a family history of breast cancer. 21876083 2011
dbSNP: rs121908698
rs121908698
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0006142
Disease:
Malignant neoplasm of breast 		A 0.700 GeneticVariation CLINVAR Analysis of CHEK2 FHA domain in Czech patients with sporadic breast cancer revealed distinct rare genetic alterations. 18058223 2008
dbSNP: rs121908698
rs121908698
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0006142
Disease:
Malignant neoplasm of breast 		T 0.700 GeneticVariation CLINVAR A large germline deletion in the Chek2 kinase gene is associated with an increased risk of prostate cancer. 17085682 2006
dbSNP: rs121908698
rs121908698
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0006142
Disease:
Malignant neoplasm of breast 		T 0.700 GeneticVariation CLINVAR Association of two mutations in the CHEK2 gene with breast cancer. 15810020 2005
dbSNP: rs121908698
rs121908698
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0006142
Disease:
Malignant neoplasm of breast 		T 0.700 GeneticVariation CLINVAR CHEK2 is a multiorgan cancer susceptibility gene. 15492928 2004
dbSNP: rs121908698
rs121908698
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0006142
Disease:
Malignant neoplasm of breast 		T 0.700 GeneticVariation CLINVAR Limited relevance of the CHEK2 gene in hereditary breast cancer. 15095295 2004
dbSNP: rs121908698
rs121908698
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0006142
Disease:
Malignant neoplasm of breast 		T 0.700 CausalMutation CLINVAR Mutations in CHEK2 associated with prostate cancer risk. 12533788 2003
dbSNP: rs121908698
rs121908698
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0006142
Disease:
Malignant neoplasm of breast 		T 0.700 GeneticVariation CLINVAR Mutations in CHEK2 associated with prostate cancer risk. 12533788 2003