Annotation Detail

Information
Associated Genes
ATM
Associated Variants
ATM p.Asp1853Asn (p.D1853N) ( ENST00000452508.7, ENST00000278616.10, ENST00000601453.3, ENST00000675843.1, ENST00000713844.1 )
ATM p.Asp1853Asn (p.D1853N) ( ENST00000278616.10, ENST00000452508.7, ENST00000601453.3, ENST00000675843.1, ENST00000713844.1 )
Associated Disease
Malignant neoplasm of breast
Source Database
DisGeNET
Description
The results of this study suggest an association between the ATM codon 1853 Asn/Asp and Asn/Asn genotypes with the development of Grade 3 fibrosis in breast cancer patients treated with radiotherapy.
Pubmed
16338099
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.127502327614053
Year of publication
2006
Drugs