Annotation Detail
Information
- Associated Genes
- CDKN2A
- Associated Variants
-
CDKN2A MUTATION
CDKN2A MUTATION
CDKN2A p.Ala148Thr (p.A148T) ( ENST00000498628.6, ENST00000578845.2, ENST00000494262.5, ENST00000530628.2, ENST00000498124.1, ENST00000497750.1, ENST00000579122.1, ENST00000304494.10, ENST00000479692.2, ENST00000579755.2 )
CDKN2A p.Ala148Thr (p.A148T) ( ENST00000579122.1, ENST00000579755.2, ENST00000304494.10, ENST00000479692.2, ENST00000494262.5, ENST00000497750.1, ENST00000498124.1, ENST00000498628.6, ENST00000530628.2, ENST00000578845.2 ) - Associated Disease
- Malignant neoplasm of breast
- Source Database
- DisGeNET
- Description
- In the total set of 189 patients we found a novel change Pro48Arg (nt 143 c > g), a novel intronic change IVS1+36 g>c and two common variants A148T and IVS3+29 c>g. The results of this study revealed a paucity of mutations in CDKN2A/ARF suggesting that in the Polish population this gene does not contribute significantly to early-onset breast cancer, pancreatic cancer and malignant melanoma.
- Pubmed
- 18714178
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0433660243160435
- Year of publication
- 2008
Drugs