Annotation Detail

Information
Associated Genes
BRCA2
Associated Variants
BRCA2 MUTATION
BRCA2 MUTATION
Associated Disease
Hereditary Breast and Ovarian Cancer Syndrome
Source Database
DisGeNET
Description
Frequent recurrent mutations in the breast and ovarian cancer susceptibility (BRCA) genes BRCA1 and BRCA2 among Hispanics, including a large rearrangement Mexican founder mutation (BRCA1 exon 9-12 deletion [ex9-12del]), suggest that an ancestry-informed BRCA-testing strategy could reduce disparities and promote cancer prevention by enabling economic screening for hereditary breast and ovarian cancer in Mexico.
Pubmed
25236687
Section of the abstract supporting the evidence
BACKGROUND
Number of the section of the abstract supporting the evidence
1
Number of the sentence supporting the evidence
1
Original source reporting the Gene Disease association
BeFree,CLINVAR,CTD_human,ORPHANET
DisGENET score for the Gene Disease association
0.391215815289235
Drugs