BRCA1, BRCA1 DNA repair associated, 672

N. diseases: 747; N. variants: 2600
Disease: Malignant neoplasm of breast ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28897696
rs28897696
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0006142
Disease:
Malignant neoplasm of breast 		0.810 GeneticVariation UNIPROT Risk assessment, genetic counseling, and genetic testing for BRCA-related cancer in women: U.S. Preventive Services Task Force recommendation statement. 24366376 2014
dbSNP: rs28897696
rs28897696
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0006142
Disease:
Malignant neoplasm of breast 		0.810 GeneticVariation UNIPROT Summaries for patients. Assessing the genetic risk for BRCA-related breast or ovarian cancer in women: recommendations from the U.S. Preventive Services Task Force. 24366402 2014
dbSNP: rs28897696
rs28897696
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0006142
Disease:
Malignant neoplasm of breast 		0.810 GeneticVariation UNIPROT The emerging landscape of breast cancer susceptibility. 18163131 2008
dbSNP: rs28897696
rs28897696
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0006142
Disease:
Malignant neoplasm of breast 		0.810 GeneticVariation UNIPROT Risk assessment and genetic counseling for hereditary breast and ovarian cancer: recommendations of the National Society of Genetic Counselors. 17508274 2007
dbSNP: rs28897696
rs28897696
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0006142
Disease:
Malignant neoplasm of breast 		0.810 GeneticVariation UNIPROT Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. 15604628 2004
dbSNP: rs28897696
rs28897696
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0006142
Disease:
Malignant neoplasm of breast 		0.810 GeneticVariation BEFREE Two mutated forms of BRCA1, a missense (A1708E) and a nonsense (Y1853X) that have been identified in familial breast cancers, associated with Nmi and c-Myc but failed to suppress c-Myc-induced hTERT promoter activity. 11916966 2002
dbSNP: rs28897696
rs28897696
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0006142
Disease:
Malignant neoplasm of breast 		T 0.810 CausalMutation CLINVAR