| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
A | 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 |
|||
|
A | 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 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | Response to DNA damage of CHEK2 missense mutations in familial breast cancer. | 22419737 | 2012 |
|||
|
G | 0.700 | GeneticVariation | CLINVAR | CHEK2 contribution to hereditary breast cancer in non-BRCA families. | 22114986 | 2011 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | Identification and characterization of novel SNPs in CHEK2 in Ashkenazi Jewish men with prostate cancer. | 18571837 | 2008 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | Germline CHEK2 mutations in Jewish Ashkenazi women at high risk for breast cancer. | 18085035 | 2007 |
|||
|
A | 0.700 | GeneticVariation | CLINVAR | Genetic and functional analysis of CHEK2 (CHK2) variants in multiethnic cohorts. | 17721994 | 2007 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | CHEK2-positive breast cancers in young Polish women. | 16914568 | 2006 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | Spectrum of mutations in BRCA1, BRCA2, CHEK2, and TP53 in families at high risk of breast cancer. | 16551709 | 2006 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | Functional and genomic approaches reveal an ancient CHEK2 allele associated with breast cancer in the Ashkenazi Jewish population. | 15649950 | 2005 |
|||
|
C | 0.700 | CausalMutation | CLINVAR | Nonsense-mediated mRNA decay: terminating erroneous gene expression. | 15145354 | 2004 |