Annotation Detail

Information
Associated Genes
BRCA2
Associated Variants
FGFR2 c.109+906T>C ( ENST00000683211.1, ENST00000357555.9, ENST00000683035.1, ENST00000346997.6, ENST00000369061.8, ENST00000457416.7, ENST00000356226.8, ENST00000684153.1, ENST00000611527.1, ENST00000682550.1, ENST00000613048.4, ENST00000359354.6, ENST00000369056.5, ENST00000360144.7, ENST00000369059.5, ENST00000351936.11, ENST00000369060.8, ENST00000358487.10 )
FGFR2 c.109+906T>C ( ENST00000683211.1, ENST00000684153.1, ENST00000346997.6, ENST00000351936.11, ENST00000356226.8, ENST00000357555.9, ENST00000358487.10, ENST00000359354.6, ENST00000360144.7, ENST00000369056.5, ENST00000369059.5, ENST00000369060.8, ENST00000369061.8, ENST00000457416.7, ENST00000611527.1, ENST00000613048.4, ENST00000682550.1, ENST00000683035.1 )
Associated Disease
Malignant neoplasm of breast
Source Database
DisGeNET
Description
We conducted a literature review to identify case-control studies of variants in 4 genes known to affect breast cancer risk: CHEK2*1100delC; multiple variants in BRCA1 and BRCA2; and FGFR2 rs2981582.
Pubmed
20299982
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.48
Year of publication
2010
Drugs