Neoplastic Syndromes, Hereditary
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Characterization of the c.793-1G > A splicing variant in CHEK2 gene as pathogenic: a case report.
|
31349801 |
2019 |
Neoplastic Syndromes, Hereditary
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
Potentially pathogenic germline CHEK2 c.319+2T>A among multiple early-onset cancer families.
|
28608266 |
2018 |
Neoplastic Syndromes, Hereditary
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
Intraductal/ductal histology and lymphovascular invasion are associated with germline DNA-repair gene mutations in prostate cancer.
|
29368341 |
2018 |
Neoplastic Syndromes, Hereditary
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
A comprehensive evaluation of CHEK2 germline mutations in men with prostate cancer.
|
29520813 |
2018 |
Neoplastic Syndromes, Hereditary
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Revisiting breast cancer patients who previously tested negative for BRCA mutations using a 12-gene panel.
|
27798748 |
2017 |
Neoplastic Syndromes, Hereditary
|
0.100 |
CausalMutation
|
group |
CLINVAR |
CHEK2 c.1100delC mutation is associated with an increased risk for male breast cancer in Finnish patient population.
|
28874143 |
2017 |
Neoplastic Syndromes, Hereditary
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
Revisiting breast cancer patients who previously tested negative for BRCA mutations using a 12-gene panel.
|
27798748 |
2017 |
Neoplastic Syndromes, Hereditary
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Colorectal cancer risk associated with the CHEK2 1100delC variant.
|
28734145 |
2017 |
Neoplastic Syndromes, Hereditary
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
Genomic analysis of inherited breast cancer among Palestinian women: Genetic heterogeneity and a founder mutation in TP53.
|
28486781 |
2017 |
Neoplastic Syndromes, Hereditary
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
Multigene panels in Ashkenazi Jewish patients yield high rates of actionable mutations in multiple non-BRCA cancer-associated genes.
|
28495237 |
2017 |
Neoplastic Syndromes, Hereditary
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
Gene panel sequencing in familial breast/ovarian cancer patients identifies multiple novel mutations also in genes others than BRCA1/2.
|
27616075 |
2017 |
Neoplastic Syndromes, Hereditary
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
Male breast cancer in a multi-gene panel testing cohort: insights and unexpected results.
|
28008555 |
2017 |
Neoplastic Syndromes, Hereditary
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
Germline Mutations in Cancer Susceptibility Genes in a Large Series of Unselected Breast Cancer Patients.
|
28724667 |
2017 |
Neoplastic Syndromes, Hereditary
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
Assigning clinical meaning to somatic and germ-line whole-exome sequencing data in a prospective cancer precision medicine study.
|
28125075 |
2017 |
Neoplastic Syndromes, Hereditary
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes.
|
28944238 |
2017 |
Neoplastic Syndromes, Hereditary
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
Expanding the genotype-phenotype spectrum in hereditary colorectal cancer by gene panel testing.
|
27696107 |
2017 |
Neoplastic Syndromes, Hereditary
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Male breast cancer in a multi-gene panel testing cohort: insights and unexpected results.
|
28008555 |
2017 |
Neoplastic Syndromes, Hereditary
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Rare, protein-truncating variants in ATM, CHEK2 and PALB2, but not XRCC2, are associated with increased breast cancer risks.
|
28779002 |
2017 |
Neoplastic Syndromes, Hereditary
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Sensitivity of BRCA1/2 testing in high-risk breast/ovarian/male breast cancer families: little contribution of comprehensive RNA/NGS panel testing.
|
27273131 |
2016 |
Neoplastic Syndromes, Hereditary
|
0.100 |
CausalMutation
|
group |
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
|
0.100 |
CausalMutation
|
group |
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
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Hereditary truncating mutations of DNA repair and other genes in BRCA1/BRCA2/PALB2-negatively tested breast cancer patients.
|
26822949 |
2016 |
Neoplastic Syndromes, Hereditary
|
0.100 |
CausalMutation
|
group |
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
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Inherited DNA-Repair Gene Mutations in Men with Metastatic Prostate Cancer.
|
27433846 |
2016 |
Neoplastic Syndromes, Hereditary
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS.
|
27595995 |
2016 |