| Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
Neoplastic Syndromes, Hereditary
|
0.700 | CausalMutation | CLINVAR | Germline and somatic mutations in homologous recombination genes among Chinese ovarian cancer patients detected using next-generation sequencing. | 28541631 | 2017 | |||||
Neoplastic Syndromes, Hereditary
|
0.700 | CausalMutation | CLINVAR | Clinical utility of next-generation sequencing for inherited bone marrow failure syndromes. | 28102861 | 2017 | |||||
Neoplastic Syndromes, Hereditary
|
0.700 | CausalMutation | CLINVAR | Germline Mutations in Cancer Susceptibility Genes in a Large Series of Unselected Breast Cancer Patients. | 28724667 | 2017 | |||||
Neoplastic Syndromes, Hereditary
|
0.700 | CausalMutation | CLINVAR | Germline mutations in Japanese familial pancreatic cancer patients. | 27732944 | 2016 | |||||
Neoplastic Syndromes, Hereditary
|
0.700 | CausalMutation | CLINVAR | Comprehensive spectrum of BRCA1 and BRCA2 deleterious mutations in breast cancer in Asian countries. | 26187060 | 2016 | |||||
Hereditary Breast and Ovarian Cancer Syndrome
|
0.700 | CausalMutation | CLINVAR | Comprehensive spectrum of BRCA1 and BRCA2 deleterious mutations in breast cancer in Asian countries. | 26187060 | 2016 | |||||
Mammary Neoplasms
|
0.700 | CausalMutation | CLINVAR | Prevalence and Prognostic Role of BRCA1/2 Variants in Unselected Chinese Breast Cancer Patients. | 27257965 | 2016 | |||||
Neoplastic Syndromes, Hereditary
|
0.700 | CausalMutation | CLINVAR | Evaluation of germline BRCA1 and BRCA2 mutations in a multi-ethnic Asian cohort of ovarian cancer patients. | 26541979 | 2016 | |||||
Hereditary Breast and Ovarian Cancer Syndrome
|
0.700 | CausalMutation | CLINVAR | The prevalence and spectrum of BRCA1 and BRCA2 mutations in Korean population: recent update of the Korean Hereditary Breast Cancer (KOHBRA) study. | 25863477 | 2015 | |||||
Neoplastic Syndromes, Hereditary
|
0.700 | CausalMutation | CLINVAR | Detection of BRCA1 and BRCA2 germline mutations in Japanese population using next-generation sequencing. | 25802882 | 2015 | |||||
Hereditary Breast and Ovarian Cancer Syndrome
|
0.700 | CausalMutation | CLINVAR | Detection of BRCA1 and BRCA2 germline mutations in Japanese population using next-generation sequencing. | 25802882 | 2015 | |||||
Neoplastic Syndromes, Hereditary
|
0.700 | CausalMutation | CLINVAR | Spectra of BRCA1 and BRCA2 mutations in Korean patients with breast cancer: the importance of whole-gene sequencing. | 22217648 | 2012 | |||||
Hereditary Breast and Ovarian Cancer Syndrome
|
0.700 | CausalMutation | CLINVAR | Spectra of BRCA1 and BRCA2 mutations in Korean patients with breast cancer: the importance of whole-gene sequencing. | 22217648 | 2012 | |||||
Hereditary Breast and Ovarian Cancer Syndrome
|
0.700 | CausalMutation | CLINVAR | Cross-sectional analysis of germline BRCA1 and BRCA2 mutations in Japanese patients suspected to have hereditary breast/ovarian cancer. | 19016756 | 2008 | |||||
Neoplastic Syndromes, Hereditary
|
0.700 | CausalMutation | CLINVAR | Denaturing high-performance liquid chromatography detects reliably BRCA1 and BRCA2 mutations. | 10644434 | 1999 | |||||
FANCONI ANEMIA, COMPLEMENTATION GROUP D1
|
0.700 | CausalMutation | CLINVAR | ||||||||
GLIOMA SUSCEPTIBILITY 3
|
0.700 | CausalMutation | CLINVAR | ||||||||
Malignant neoplasm of breast
|
0.700 | CausalMutation | CLINVAR | ||||||||
Malignant neoplasm of prostate
|
0.700 | CausalMutation | CLINVAR | ||||||||
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
|
0.700 | CausalMutation | CLINVAR | ||||||||
Medulloblastoma
|
0.700 | CausalMutation | CLINVAR | ||||||||
ovarian neoplasm
|
0.700 | CausalMutation | CLINVAR | ||||||||
PANCREATIC CANCER, SUSCEPTIBILITY TO, 2
|
0.700 | CausalMutation | CLINVAR | ||||||||
Nephroblastoma
|
0.700 | CausalMutation | CLINVAR |