BRCA1, BRCA1 DNA repair associated, 672

N. diseases: 747; N. variants: 2600
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80357596
rs80357596
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C2676676
Disease:
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		G 0.700 GeneticVariation CLINVAR Clinical implications of genetic testing for BRCA1 and BRCA2 mutations in Austria. 23772696 2014
dbSNP: rs80357596
rs80357596
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C2676676
Disease:
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		G 0.700 GeneticVariation CLINVAR Evaluation of BRCA1 mutations in an unselected patient population with triple-negative breast cancer. 23192404 2013
dbSNP: rs80357596
rs80357596
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C2676676
Disease:
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		G 0.700 GeneticVariation CLINVAR BRCA mutation frequency and patterns of treatment response in BRCA mutation-positive women with ovarian cancer: a report from the Australian Ovarian Cancer Study Group. 22711857 2012
dbSNP: rs80357596
rs80357596
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C2676676
Disease:
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		G 0.700 GeneticVariation CLINVAR Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing. 22006311 2011
dbSNP: rs80357596
rs80357596
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C2676676
Disease:
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		G 0.700 GeneticVariation CLINVAR A high-throughput protocol for mutation scanning of the BRCA1 and BRCA2 genes. 21702907 2011
dbSNP: rs80357596
rs80357596
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C2676676
Disease:
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		G 0.700 GeneticVariation CLINVAR Characterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE study. 20104584 2010
dbSNP: rs80357596
rs80357596
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C2676676
Disease:
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		G 0.700 GeneticVariation CLINVAR Application of embryonic lethal or other obvious phenotypes to characterize the clinical significance of genetic variants found in trans with known deleterious mutations. 16267036 2005
dbSNP: rs80357596
rs80357596
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C2676676
Disease:
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		G 0.700 GeneticVariation CLINVAR BRCA1 mutations in women attending clinics that evaluate the risk of breast cancer. 9145677 1997
dbSNP: rs80357596
rs80357596
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C2676676
Disease:
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		G 0.700 GeneticVariation CLINVAR New Austrian mutation in BRCA1 gene detected in three unrelated HBOC families. 8622478 1996
dbSNP: rs80357596
rs80357596
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C2676676
Disease:
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		G 0.700 CausalMutation CLINVAR