Annotation Detail

Information
Associated Genes
ERBB2
Associated Variants
FTO c.124-4485A>T ( ENST00000471389.6, ENST00000637001.1, ENST00000637969.1, ENST00000636218.1, ENST00000636491.1 )
TGFBR2 c.170-3300G>C ( ENST00000295754.10, ENST00000359013.4, ENST00000714389.1, ENST00000714390.1, ENST00000714391.1 )
FTO c.124-4485A>T ( ENST00000471389.6, ENST00000636218.1, ENST00000636491.1, ENST00000637001.1, ENST00000637969.1 )
TGFBR2 c.170-3300G>C ( ENST00000295754.10, ENST00000359013.4, ENST00000714389.1, ENST00000714390.1, ENST00000714391.1 )
Associated Disease
Malignant neoplasm of breast
Source Database
DisGeNET
Description
Of the four breast cancer subtypes, the associations of rs12493607 (3p24.1/TGFBR2) with HER-2 overexpression in breast cancer (P = 1.09 × 10(-3)) and rs11075995 (16q12.2/FTO) with basal-like breast cancer (P = 1.64 × 10(-4)) were statistically significant.
Pubmed
25007960
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.24
Year of publication
2014
Drugs