rs17879961
×
Entrez Id:
11200
Gene Symbol:
CHEK2
CHEK2
Breast Carcinoma
G
0.900
GeneticVariation
CLINVAR
rs200928781
×
Entrez Id:
11200
Gene Symbol:
CHEK2
CHEK2
Malignant neoplasm of breast
G
0.810
GeneticVariation
CLINVAR
Association Between Inherited Germline Mutations in Cancer Predisposition Genes and Risk of Pancreatic Cancer.
29922827
2018
rs200928781
×
Entrez Id:
11200
Gene Symbol:
CHEK2
CHEK2
Malignant neoplasm of breast
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
rs200928781
×
Entrez Id:
11200
Gene Symbol:
CHEK2
CHEK2
Malignant neoplasm of breast
G
0.810
GeneticVariation
CLINVAR
Breast cancer risk is similar for CHEK2 founder and non-founder mutation carriers.
27751358
2016
rs200928781
×
Entrez Id:
11200
Gene Symbol:
CHEK2
CHEK2
Malignant neoplasm of breast
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
rs200928781
×
Entrez Id:
11200
Gene Symbol:
CHEK2
CHEK2
Malignant neoplasm of breast
G
0.810
GeneticVariation
CLINVAR
CHEK2 contribution to hereditary breast cancer in non-BRCA families.
22114986
2011
rs17879961
×
Entrez Id:
11200
Gene Symbol:
CHEK2
CHEK2
Malignant neoplasm of breast
G
0.800
GeneticVariation
CLINVAR
CHEK2 mutations and the risk of papillary thyroid cancer.
25583358
2015
rs17879961
×
Entrez Id:
11200
Gene Symbol:
CHEK2
CHEK2
Malignant neoplasm of breast
G
0.800
GeneticVariation
CLINVAR
Rare variants of large effect in BRCA2 and CHEK2 affect risk of lung cancer.
24880342
2014
rs17879961
×
Entrez Id:
11200
Gene Symbol:
CHEK2
CHEK2
Malignant neoplasm of breast
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
rs17879961
×
Entrez Id:
11200
Gene Symbol:
CHEK2
CHEK2
Malignant neoplasm of breast
G
0.800
GeneticVariation
CLINVAR
The risk of gastric cancer in carriers of CHEK2 mutations.
23296741
2013
rs17879961
×
Entrez Id:
11200
Gene Symbol:
CHEK2
CHEK2
Malignant neoplasm of breast
G
0.800
GeneticVariation
CLINVAR
BRCA1, TP53, and CHEK2 germline mutations in uterine serous carcinoma.
22811390
2013
rs17879961
×
Entrez Id:
11200
Gene Symbol:
CHEK2
CHEK2
Malignant neoplasm of breast
G
0.800
GeneticVariation
CLINVAR
Response to DNA damage of CHEK2 missense mutations in familial breast cancer.
22419737
2012
rs17879961
×
Entrez Id:
11200
Gene Symbol:
CHEK2
CHEK2
Malignant neoplasm of breast
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
rs17879961
×
Entrez Id:
11200
Gene Symbol:
CHEK2
CHEK2
Malignant neoplasm of breast
G
0.800
GeneticVariation
CLINVAR
CHEK2 mutations and HNPCC-related colorectal cancer.
19876921
2010
rs17879961
×
Entrez Id:
11200
Gene Symbol:
CHEK2
CHEK2
Malignant neoplasm of breast
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
rs17879961
×
Entrez Id:
11200
Gene Symbol:
CHEK2
CHEK2
Malignant neoplasm of breast
G
0.800
GeneticVariation
CLINVAR
Variants in the ATM-BRCA2-CHEK2 axis predispose to chronic lymphocytic leukemia.
16574953
2006
rs17879961
×
Entrez Id:
11200
Gene Symbol:
CHEK2
CHEK2
Malignant neoplasm of breast
G
0.800
GeneticVariation
CLINVAR
Characterization of CHEK2 mutations in prostate cancer.
16835864
2006
rs17879961
×
Entrez Id:
11200
Gene Symbol:
CHEK2
CHEK2
Malignant neoplasm of breast
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
rs17879961
×
Entrez Id:
11200
Gene Symbol:
CHEK2
CHEK2
Malignant neoplasm of breast
G
0.800
GeneticVariation
CLINVAR
Destabilization of CHK2 by a missense mutation associated with Li-Fraumeni Syndrome.
11719428
2001
rs17879961
×
Entrez Id:
11200
Gene Symbol:
CHEK2
CHEK2
Malignant neoplasm of breast
G
0.800
GeneticVariation
CLINVAR
The ATM-Chk2-Cdc25A checkpoint pathway guards against radioresistant DNA synthesis.
11298456
2001
rs137853007
×
Entrez Id:
11200
Gene Symbol:
CHEK2
CHEK2
Li-Fraumeni Syndrome 2
A
0.800
CausalMutation
CLINVAR
rs137853008
×
Entrez Id:
11200
Gene Symbol:
CHEK2
CHEK2
Osteosarcoma
A
0.800
CausalMutation
CLINVAR
rs17879961
×
Entrez Id:
11200
Gene Symbol:
CHEK2
CHEK2
Malignant neoplasm of breast
G
0.800
CausalMutation
CLINVAR
rs536907995
×
Entrez Id:
11200
Gene Symbol:
CHEK2
CHEK2
Malignant neoplasm of breast
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
rs536907995
×
Entrez Id:
11200
Gene Symbol:
CHEK2
CHEK2
Malignant neoplasm of breast
A
0.720
CausalMutation
CLINVAR
Use of Whole Genome Sequencing for Diagnosis and Discovery in the Cancer Genetics Clinic.
26023681
2015