|
Malignant neoplasm of breast
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Destabilization of CHK2 by a missense mutation associated with Li-Fraumeni Syndrome.
|
11719428 |
2001 |
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
CausalMutation
|
CLINVAR |
Destabilization of CHK2 by a missense mutation associated with Li-Fraumeni Syndrome.
|
11719428 |
2001 |
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
CausalMutation
|
CLINVAR |
Different CHEK2 germline mutations are associated with distinct immunophenotypic molecular subtypes of breast cancer.
|
21701879 |
2012 |
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
CausalMutation
|
CLINVAR |
Effect of CHEK2 missense variant I157T on the risk of breast cancer in carriers of other CHEK2 or BRCA1 mutations.
|
18930998 |
2009 |
|
Neoplastic Syndromes, Hereditary
|
|
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 |
|
Carcinoma of lung
|
|
0.730 |
GeneticVariation
|
BEFREE |
For instance, a greater absolute risk reduction of lung and upper aerodigestive cancers in smokers than in non-smokers carrying the I157T CHEK2 variant has been observed, as has an interaction between TP53 intron 3 16-bp repeats and multiple X-ray exposures on lung cancer risk.
|
19442246 |
2009 |
|
Malignant neoplasm of lung
|
|
0.730 |
GeneticVariation
|
BEFREE |
For instance, a greater absolute risk reduction of lung and upper aerodigestive cancers in smokers than in non-smokers carrying the I157T CHEK2 variant has been observed, as has an interaction between TP53 intron 3 16-bp repeats and multiple X-ray exposures on lung cancer risk.
|
19442246 |
2009 |
|
Primary malignant neoplasm of lung
|
|
0.030 |
GeneticVariation
|
BEFREE |
For instance, a greater absolute risk reduction of lung and upper aerodigestive cancers in smokers than in non-smokers carrying the I157T CHEK2 variant has been observed, as has an interaction between TP53 intron 3 16-bp repeats and multiple X-ray exposures on lung cancer risk.
|
19442246 |
2009 |
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
CausalMutation
|
CLINVAR |
Functional impact of concomitant versus alternative defects in the Chk2-p53 tumour suppressor pathway.
|
11571648 |
2001 |
|
Malignant Neoplasms
|
|
0.090 |
GeneticVariation
|
BEFREE |
Furthermore, the higher frequency of I157T among patients with multiple primary tumours as well as those with a family history of any cancer supports a role for CHEK2 I157T as a susceptibility allele for multiple cancer types.
|
16816021 |
2006 |
|
Primary malignant neoplasm
|
|
0.090 |
GeneticVariation
|
BEFREE |
Furthermore, the higher frequency of I157T among patients with multiple primary tumours as well as those with a family history of any cancer supports a role for CHEK2 I157T as a susceptibility allele for multiple cancer types.
|
16816021 |
2006 |
|
Neoplasms
|
|
0.020 |
GeneticVariation
|
BEFREE |
Gene expression analysis suggested luminal A to be the most common subtype for p.I157T carriers and CDH1 (cadherin 1) target genes to be significantly enriched among genes, whose expression differed between p.I157T and non-carrier tumors.
|
27716369 |
2016 |
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
CausalMutation
|
CLINVAR |
Genetic variants associated with breast-cancer risk: comprehensive research synopsis, meta-analysis, and epidemiological evidence.
|
21514219 |
2011 |
|
Breast Carcinoma
|
|
0.900 |
GeneticVariation
|
GWASCAT |
Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer.
|
25751625 |
2015 |
|
Pancreatic Ductal Adenocarcinoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
Germline BRCA2 K3326X and CHEK2 I157T mutations increase risk for sporadic pancreatic ductal adenocarcinoma.
|
30672594 |
2019 |
|
Primary malignant neoplasm
|
|
0.090 |
GeneticVariation
|
BEFREE |
Germline mutations in CHEK2 (1100delC, IVS2+1G>A and I157T) have been impaired serine/threonine kinase activity and associated with a range of cancer types.
|
22521562 |
2012 |
|
Malignant Neoplasms
|
|
0.090 |
GeneticVariation
|
BEFREE |
Germline mutations in CHEK2 (1100delC, IVS2+1G>A and I157T) have been impaired serine/threonine kinase activity and associated with a range of cancer types.
|
22521562 |
2012 |
|
Malignant Neoplasms
|
|
0.090 |
GeneticVariation
|
BEFREE |
Germline mutations in CHK2 (1100delC, IVS2+1G>A and I157T) have been associated with a range of cancer types.
|
23107771 |
2013 |
|
Primary malignant neoplasm
|
|
0.090 |
GeneticVariation
|
BEFREE |
Germline mutations in CHK2 (1100delC, IVS2+1G>A and I157T) have been associated with a range of cancer types.
|
23107771 |
2013 |
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
CausalMutation
|
CLINVAR |
Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome.
|
25980754 |
2015 |
|
Hereditary pancreatitis
|
|
0.010 |
GeneticVariation
|
BEFREE |
In addition, I157T variant had significantly higher frequency among HPC patients (13 out of 120 (10.8%); odds ratio 2.12; 95% confidence interval 1.06-4.27; P=0.04) than the frequency 5.4% seen in the population controls.
|
14612911 |
2003 |
|
Carcinoma of lung
|
|
0.730 |
GeneticVariation
|
BEFREE |
In contrast, a previous report suggests that individuals with the I157T missense variant of the CHEK2 gene might be at decreased risk of lung cancer and upper aero-digestive cancers.
|
18281249 |
2008 |
|
Malignant neoplasm of lung
|
|
0.730 |
GeneticVariation
|
BEFREE |
In contrast, a previous report suggests that individuals with the I157T missense variant of the CHEK2 gene might be at decreased risk of lung cancer and upper aero-digestive cancers.
|
18281249 |
2008 |
|
Primary malignant neoplasm of lung
|
|
0.030 |
GeneticVariation
|
BEFREE |
In contrast, a previous report suggests that individuals with the I157T missense variant of the CHEK2 gene might be at decreased risk of lung cancer and upper aero-digestive cancers.
|
18281249 |
2008 |
|
Malignant neoplasm of gastrointestinal tract
|
|
0.010 |
GeneticVariation
|
BEFREE |
In contrast, a previous report suggests that individuals with the I157T missense variant of the CHEK2 gene might be at decreased risk of lung cancer and upper aero-digestive cancers.
|
18281249 |
2008 |