| Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
Malignant neoplasm of breast
|
0.870 | CausalMutation | CLINVAR | ||||||||
Breast Carcinoma
|
0.770 | CausalMutation | CLINVAR | ||||||||
ovarian neoplasm
|
0.730 | CausalMutation | CLINVAR | ||||||||
Malignant neoplasm of ovary
|
0.730 | GeneticVariation | UNIPROT | ||||||||
Mammary Neoplasms
|
0.700 | CausalMutation | CLINVAR | ||||||||
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
|
0.700 | CausalMutation | CLINVAR | ||||||||
FANCONI ANEMIA, COMPLEMENTATION GROUP S
|
0.700 | CausalMutation | CLINVAR | ||||||||
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
|
0.700 | CausalMutation | CLINVAR | ||||||||
PANCREATIC CANCER, SUSCEPTIBILITY TO, 4
|
0.700 | CausalMutation | CLINVAR | ||||||||
Hereditary Breast and Ovarian Cancer Syndrome
|
0.700 | CausalMutation | CLINVAR | Somatic mutations in the BRCA1 gene in sporadic ovarian tumours. | 7795652 | 1995 | |||||
Hereditary Breast and Ovarian Cancer Syndrome
|
0.700 | CausalMutation | CLINVAR | Confirmation of BRCA1 by analysis of germline mutations linked to breast and ovarian cancer in ten families. | 7894493 | 1994 | |||||
Hereditary Breast and Ovarian Cancer Syndrome
|
0.700 | CausalMutation | CLINVAR | Human BRCA1 inhibits growth in yeast: potential use in diagnostic testing. | 9159158 | 1997 | |||||
Hereditary Breast and Ovarian Cancer Syndrome
|
0.700 | CausalMutation | CLINVAR | The cancer-predisposing mutation C61G disrupts homodimer formation in the NH2-terminal BRCA1 RING finger domain. | 9525870 | 1998 | |||||
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
|
0.700 | CausalMutation | CLINVAR | The cancer-predisposing mutation C61G disrupts homodimer formation in the NH2-terminal BRCA1 RING finger domain. | 9525870 | 1998 | |||||
Malignant Neoplasms
|
0.020 | GeneticVariation | BEFREE | The cancer-predisposing mutation C61G disrupts homodimer formation in the NH2-terminal BRCA1 RING finger domain. | 9525870 | 1998 | |||||
Primary malignant neoplasm
|
0.020 | GeneticVariation | BEFREE | The cancer-predisposing mutation C61G disrupts homodimer formation in the NH2-terminal BRCA1 RING finger domain. | 9525870 | 1998 | |||||
Hereditary Breast and Ovarian Cancer Syndrome
|
0.700 | CausalMutation | CLINVAR | Founder mutations in the BRCA1 gene in Polish families with breast-ovarian cancer. | 10788334 | 2000 | |||||
Hereditary Breast and Ovarian Cancer Syndrome
|
0.700 | CausalMutation | CLINVAR | BRCA1 physically and functionally interacts with ATF1. | 10945975 | 2000 | |||||
Hereditary Breast and Ovarian Cancer Syndrome
|
0.700 | CausalMutation | CLINVAR | The RING heterodimer BRCA1-BARD1 is a ubiquitin ligase inactivated by a breast cancer-derived mutation. | 11278247 | 2001 | |||||
Hereditary Breast and Ovarian Cancer Syndrome
|
0.700 | CausalMutation | CLINVAR | Cancer-predisposing mutations within the RING domain of BRCA1: loss of ubiquitin protein ligase activity and protection from radiation hypersensitivity. | 11320250 | 2001 | |||||
Hereditary Breast and Ovarian Cancer Syndrome
|
0.700 | CausalMutation | CLINVAR | BRCA1 and BRCA2 mutation status and cancer family history of Danish women affected with multifocal or bilateral breast cancer at a young age. | 11389159 | 2001 | |||||
Hereditary Breast and Ovarian Cancer Syndrome
|
0.700 | CausalMutation | CLINVAR | Average age-specific cumulative risk of breast cancer according to type and site of germline mutations in BRCA1 and BRCA2 estimated from multiple-case breast cancer families attending Australian family cancer clinics. | 12601471 | 2003 | |||||
Hereditary Breast and Ovarian Cancer Syndrome
|
0.700 | CausalMutation | CLINVAR | Binding and recognition in the assembly of an active BRCA1/BARD1 ubiquitin-ligase complex. | 12732733 | 2003 | |||||
Hereditary Breast and Ovarian Cancer Syndrome
|
0.700 | CausalMutation | CLINVAR | Contributions of ATM mutations to familial breast and ovarian cancer. | 12810666 | 2003 | |||||
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
|
0.700 | CausalMutation | CLINVAR | Twenty-three novel BRCA1 and BRCA2 sequence alterations in breast and/or ovarian cancer families in Southern Germany. | 12938098 | 2003 |