BRCA1, BRCA1 DNA repair associated, 672

N. diseases: 747; N. variants: 2600
Disease: Neoplasm Metastasis ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs62625308
rs62625308
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0027627
Disease:
Neoplasm Metastasis 		0.010 GeneticVariation BEFREE In another case, EML4-ALK fusion detected in the primary tumor was associated with ALK G1202R secondary resistance mutation in the post-treatment metastasis. 30946933 2019
dbSNP: rs16940
rs16940
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0027627
Disease:
Neoplasm Metastasis 		0.010 GeneticVariation BEFREE Combination between TT genotype of c.2311T>C and miR-1179 over-expression could generate a lack of BRCA1 protein leading to a high risk of familial breast cancer with distant metastases. 25273865 2014