| Breast cancer associated mutation |
| Geno
|
Mag
|
Summary
|
| (C;C)
|
0
|
common in clinvar
|
| (C;T)
|
6
|
Breast cancer associated mutation
|
This is a genotype with recommended actions if clinically confirmed. In brief:
- ATM and CHEK2 gene mutations may be associated with an increased risk of breast cancer.
- Females carrying a pathogenic ATM or CHEK2 variant are advised to have annual mammography starting at age 40 and may wish to consider MRI screening. Note that carriers of the p.Val2424Gly ATM mutation are advised to begin such screening earlier.
- Some guidelines recommend prophylactic surgery and/or medication use.
- The increase in breast cancer risk relative to the average population for ATM and CHEK2 mutation carriers is estimated to be between 3-10 fold, depending on the mutation and other factors.
The full ClinGen Actionability report about ATM & CHEK2-based breast cancer can be found
here.
Genetic counseling may be available to you through your health-care network. In the US, genetic counselors may be found via this webpage of the National Society of Genetic Counselors.
