|
Li-Fraumeni Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
Rare, protein-truncating variants in ATM, CHEK2 and PALB2, but not XRCC2, are associated with increased breast cancer risks.
|
28779002 |
2017 |
|
leiomyosarcoma
|
|
0.700 |
CausalMutation
|
CLINVAR |
Genomic profiling of pelvic genital type leiomyosarcoma in a woman with a germline CHEK2:c.1100delC mutation and a concomitant diagnosis of metastatic invasive ductal breast carcinoma.
|
28514723 |
2017 |
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
CausalMutation
|
CLINVAR |
CHEK2 c.1100delC mutation is associated with an increased risk for male breast cancer in Finnish patient population.
|
28874143 |
2017 |
|
Mammary Neoplasms
|
|
0.700 |
CausalMutation
|
CLINVAR |
Genomic profiling of pelvic genital type leiomyosarcoma in a woman with a germline CHEK2:c.1100delC mutation and a concomitant diagnosis of metastatic invasive ductal breast carcinoma.
|
28514723 |
2017 |
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
CausalMutation
|
CLINVAR |
Colorectal cancer risk associated with the CHEK2 1100delC variant.
|
28734145 |
2017 |
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
CausalMutation
|
CLINVAR |
Germline Analysis from Tumor-Germline Sequencing Dyads to Identify Clinically Actionable Secondary Findings.
|
27083775 |
2016 |
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
CausalMutation
|
CLINVAR |
Diagnostic Yield of Clinical Tumor and Germline Whole-Exome Sequencing for Children With Solid Tumors.
|
26822237 |
2016 |
|
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 |
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
CausalMutation
|
CLINVAR |
Age- and Tumor Subtype-Specific Breast Cancer Risk Estimates for CHEK2*1100delC Carriers.
|
27269948 |
2016 |
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
CausalMutation
|
CLINVAR |
The germline mutations of the CHEK2 gene are associated with an increased risk of polycythaemia vera.
|
26084796 |
2016 |
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
CausalMutation
|
CLINVAR |
Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.
|
26681312 |
2016 |
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
CausalMutation
|
CLINVAR |
Inherited DNA-Repair Gene Mutations in Men with Metastatic Prostate Cancer.
|
27433846 |
2016 |
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
CausalMutation
|
CLINVAR |
Breast cancer risk is similar for CHEK2 founder and non-founder mutation carriers.
|
27751358 |
2016 |
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
CausalMutation
|
CLINVAR |
Inherited mutations in cancer susceptibility genes are common among survivors of breast cancer who develop therapy-related leukemia.
|
26641009 |
2016 |
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
CausalMutation
|
CLINVAR |
Increased Risk for Other Cancers in Addition to Breast Cancer for CHEK2*1100delC Heterozygotes Estimated From the Copenhagen General Population Study.
|
26884562 |
2016 |
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
CausalMutation
|
CLINVAR |
CHEK2 mutations and the risk of papillary thyroid cancer.
|
25583358 |
2015 |
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
CausalMutation
|
CLINVAR |
BRCA1, TP53, and CHEK2 germline mutations in uterine serous carcinoma.
|
22811390 |
2013 |
|
Li-Fraumeni Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
Response to DNA damage of CHEK2 missense mutations in familial breast cancer.
|
22419737 |
2012 |
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
CausalMutation
|
CLINVAR |
CHEK2*1100delC and risk of malignant melanoma: Danish and German studies and meta-analysis.
|
21956126 |
2012 |
|
Malignant neoplasm of breast
|
|
0.700 |
CausalMutation
|
CLINVAR |
CHEK2 1100delC variant and breast cancer risk in Caucasians: a meta-analysis based on 25 studies with 29,154 cases and 37,064 controls.
|
22994785 |
2012 |
|
Malignant neoplasm of breast
|
|
0.700 |
CausalMutation
|
CLINVAR |
CHEK2*1100delC homozygosity is associated with a high breast cancer risk in women.
|
22058428 |
2011 |
|
Malignant neoplasm of breast
|
|
0.700 |
CausalMutation
|
CLINVAR |
Meta-analysis of CHEK2 1100delC variant and colorectal cancer susceptibility.
|
21807500 |
2011 |
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
CausalMutation
|
CLINVAR |
Meta-analysis of CHEK2 1100delC variant and colorectal cancer susceptibility.
|
21807500 |
2011 |
|
Li-Fraumeni Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
The contribution of CHEK2 to the TP53-negative Li-Fraumeni phenotype.
|
19338683 |
2009 |
|
Malignant neoplasm of breast
|
|
0.700 |
CausalMutation
|
CLINVAR |
The contribution of CHEK2 to the TP53-negative Li-Fraumeni phenotype.
|
19338683 |
2009 |