Gene: CHEK2 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs200928781
rs200928781
CHEK2
G 0.810 GeneticVariation CLINVAR Association Between Inherited Germline Mutations in Cancer Predisposition Genes and Risk of Pancreatic Cancer. 29922827

2018
dbSNP: rs200928781
rs200928781
CHEK2
G 0.810 GeneticVariation CLINVAR Implementation of next-generation sequencing for molecular diagnosis of hereditary breast and ovarian cancer highlights its genetic heterogeneity. 27553368

2016
dbSNP: rs200928781
rs200928781
CHEK2
G 0.810 GeneticVariation CLINVAR Breast cancer risk is similar for CHEK2 founder and non-founder mutation carriers. 27751358

2016
dbSNP: rs200928781
rs200928781
CHEK2
G 0.810 GeneticVariation CLINVAR Prevalence of mutations in a panel of breast cancer susceptibility genes in BRCA1/2-negative patients with early-onset breast cancer. 25503501

2015
dbSNP: rs200928781
rs200928781
CHEK2
G 0.810 GeneticVariation CLINVAR CHEK2 contribution to hereditary breast cancer in non-BRCA families. 22114986

2011
dbSNP: rs17879961
rs17879961
CHEK2
G 0.800 GeneticVariation CLINVAR CHEK2 mutations and the risk of papillary thyroid cancer. 25583358

2015
dbSNP: rs17879961
rs17879961
CHEK2
G 0.800 GeneticVariation CLINVAR Rare variants of large effect in BRCA2 and CHEK2 affect risk of lung cancer. 24880342

2014
dbSNP: rs17879961
rs17879961
CHEK2
G 0.800 GeneticVariation CLINVAR In total, 26,336 cases and 44,219 controls from 18 case-control studies were used in this meta-analysis, and significant associations of the CHEK2 I157T variant with cancer susceptibility were found (OR, 1.39; 95% CI, 1.19-1.63; p<0.0001), breast cancer (OR=1.58, 95% CI=1.42-1.75, p<0.00001) and colorectal cancer (OR=1.67, 95% CI=1.24-2.26, p=0.0008). 23713947

2013
dbSNP: rs17879961
rs17879961
CHEK2
G 0.800 GeneticVariation CLINVAR The risk of gastric cancer in carriers of CHEK2 mutations. 23296741

2013
dbSNP: rs17879961
rs17879961
CHEK2
G 0.800 GeneticVariation CLINVAR BRCA1, TP53, and CHEK2 germline mutations in uterine serous carcinoma. 22811390

2013
dbSNP: rs17879961
rs17879961
CHEK2
G 0.800 GeneticVariation CLINVAR Response to DNA damage of CHEK2 missense mutations in familial breast cancer. 22419737

2012
dbSNP: rs17879961
rs17879961
CHEK2
G 0.800 GeneticVariation CLINVAR Seven thousand four hundred ninety-four BRCA1 mutation-negative patients with breast cancer and 4,346 control women were genotyped for four founder mutations in CHEK2 (del5395, IVS2+1G>A, 1100delC, and I157T). 21876083

2011
dbSNP: rs17879961
rs17879961
CHEK2
G 0.800 GeneticVariation CLINVAR CHEK2 mutations and HNPCC-related colorectal cancer. 19876921

2010
dbSNP: rs17879961
rs17879961
CHEK2
G 0.800 GeneticVariation CLINVAR CHEK2 mutations affecting kinase activity together with mutations in TP53 indicate a functional pathway associated with resistance to epirubicin in primary breast cancer. 18725978

2008
dbSNP: rs17879961
rs17879961
CHEK2
G 0.800 GeneticVariation CLINVAR Variants in the ATM-BRCA2-CHEK2 axis predispose to chronic lymphocytic leukemia. 16574953

2006
dbSNP: rs17879961
rs17879961
CHEK2
G 0.800 GeneticVariation CLINVAR Characterization of CHEK2 mutations in prostate cancer. 16835864

2006
dbSNP: rs17879961
rs17879961
CHEK2
G 0.800 GeneticVariation CLINVAR The I157T variant may be associated with breast cancer risk, but the risk is lower than for 1100delC. 15239132

2004
dbSNP: rs17879961
rs17879961
CHEK2
G 0.800 GeneticVariation CLINVAR Destabilization of CHK2 by a missense mutation associated with Li-Fraumeni Syndrome. 11719428

2001
dbSNP: rs17879961
rs17879961
CHEK2
G 0.800 GeneticVariation CLINVAR The ATM-Chk2-Cdc25A checkpoint pathway guards against radioresistant DNA synthesis. 11298456

2001
dbSNP: rs17879961
rs17879961
CHEK2
G 0.800 CausalMutation CLINVAR

dbSNP: rs536907995
rs536907995
CHEK2
A 0.720 CausalMutation CLINVAR The majority of the patients (>95%) were affected with invasive ductal carcinoma (IDC), 52.1% were diagnosed with grade III tumors and 56.2% and 27.5% with advanced stages III and IV.Two novel nonsense variants i.e. c.58C>T (P.Q20X) and c.256G>T (p.E85X) at exon 1 and 2 in two breast cancer patients were identified, both novel and not reported elsewhere. 27510020

2016
dbSNP: rs536907995
rs536907995
CHEK2
A 0.720 CausalMutation CLINVAR Use of Whole Genome Sequencing for Diagnosis and Discovery in the Cancer Genetics Clinic. 26023681

2015
dbSNP: rs536907995
rs536907995
CHEK2
A 0.720 CausalMutation CLINVAR Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing. 24728327

2014
dbSNP: rs28909982
rs28909982
CHEK2
C 0.710 GeneticVariation CLINVAR Association of Breast and Ovarian Cancers With Predisposition Genes Identified by Large-Scale Sequencing. 30128536

2019
dbSNP: rs28909982
rs28909982
CHEK2
C 0.710 GeneticVariation CLINVAR Association Between Inherited Germline Mutations in Cancer Predisposition Genes and Risk of Pancreatic Cancer. 29922827

2018