BRCA1, BRCA1 DNA repair associated, 672

N. diseases: 747; N. variants: 2600
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80356892
rs80356892
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C1336076
Disease:
Sporadic Breast Carcinoma
0.700 GeneticVariation UNIPROT
dbSNP: rs11655505
rs11655505
Entrez Id: 672;10230
Gene Symbol: BRCA1;NBR2
BRCA1;NBR2
CUI: C1336076
Disease:
Sporadic Breast Carcinoma
0.010 GeneticVariation BEFREE Our data suggest that both single nucleotide variations rs11655505 (c.-2265C/T) and the methylation status of BRCA1 are not associated significantly with the occurrence of sporadic breast cancer in studied population. 23263908 2013
dbSNP: rs730881500
rs730881500
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C1336076
Disease:
Sporadic Breast Carcinoma
0.010 GeneticVariation BEFREE Two variants (Thr598Ile and Ile692Thr) were not detected in any of the 659 sporadic breast cancer cases and controls and were assessed for segregation with breast cancer in the families of the probands. 17972171 2008