rs80357064, BRCA1

N. diseases: 4
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Variation in BRCA1 cancer risks by mutation position. 11927492 2002
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.700 GeneticVariation UNIPROT BACH1, a novel helicase-like protein, interacts directly with BRCA1 and contributes to its DNA repair function. 11301010 2001
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Detection of germline mutations in the BRCA1 gene by RNA-based sequencing. 11462239 2001
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.700 GeneticVariation UNIPROT Functional interactions between BRCA1 and the checkpoint kinase ATR during genotoxic stress. 11114888 2000
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.700 GeneticVariation UNIPROT Molecular characterization of germline mutations in the BRCA1 and BRCA2 genes from breast cancer families in Taiwan. 10323242 1999
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
0.700 CausalMutation CLINVAR Constant denaturant gel electrophoresis (CDGE) in BRCA1 mutation screening. 9482581 1998
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.700 GeneticVariation UNIPROT A high proportion of mutations in the BRCA1 gene in German breast/ovarian cancer families with clustering of mutations in the 3' third of the gene. 9760198 1998
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
0.700 CausalMutation CLINVAR BAP1: a novel ubiquitin hydrolase which binds to the BRCA1 RING finger and enhances BRCA1-mediated cell growth suppression. 9528852 1998
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.700 GeneticVariation UNIPROT Constant denaturant gel electrophoresis (CDGE) in BRCA1 mutation screening. 9482581 1998
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.700 GeneticVariation UNIPROT Comparison of BRCA1 polymorphisms, rare sequence variants and/or missense mutations in unaffected and breast/ovarian cancer populations. 8776600 1996
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.700 GeneticVariation UNIPROT Mutations in the BRCA1 gene in Japanese breast cancer patients. 8723683 1996
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
0.700 CausalMutation CLINVAR Identification of a RING protein that can interact in vivo with the BRCA1 gene product. 8944023 1996
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.700 GeneticVariation UNIPROT A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. 7545954 1994
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Mutations in the BRCA1 gene in families with early-onset breast and ovarian cancer. 7894491 1994
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.700 GeneticVariation UNIPROT Mutations in the BRCA1 gene in families with early-onset breast and ovarian cancer. 7894491 1994
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.700 GeneticVariation UNIPROT BRCA1 mutations in primary breast and ovarian carcinomas. 7939630 1994
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
0.700 CausalMutation CLINVAR Mutations in the BRCA1 gene in families with early-onset breast and ovarian cancer. 7894491 1994
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.700 GeneticVariation UNIPROT Confirmation of BRCA1 by analysis of germline mutations linked to breast and ovarian cancer in ten families. 7894493 1994
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
0.700 CausalMutation CLINVAR