Annotation Detail
Information
- Associated Genes
- ATM
- Associated Variants
-
ATM MUTATION
ATM MUTATION - Associated Disease
- Malignant neoplasm of breast
- Source Database
- DisGeNET
- Description
- Here, we address two related questions: (1) are some rare MRN variants intermediate-risk breast cancer susceptibility alleles, and if so (2) do the MRN genes follow a BRCA1/BRCA2 pattern wherein most susceptibility alleles are protein-truncating variants, or do they follow an ATM/CHEK2 pattern wherein half or more of the susceptibility alleles are missense substitutions?
- Pubmed
- 24894818
- Section of the abstract supporting the evidence
- INTRODUCTION
- Number of the section of the abstract supporting the evidence
- 1
- Number of the sentence supporting the evidence
- 3
- Original source reporting the Gene Disease association
- BeFree,GAD
- DisGENET score for the Gene Disease association
- 0.127502327614053
Drugs