At the present time, and while there is no specific evidence related to ATM (c.7271T>G) mutation carriers, these guidelines are based on those that apply to management of breast cancer risk in BRCA2 mutation carriers.
Bilateral risk reducing mastectomy reduces breast cancer risk by at least 90%rr (depending on the operation performed). Statistically significant survival benefit associated with bilateral risk-reducing mastectomy compared with surveillance is yet to be demonstrated.
Risk reducing oophorectomy (RRSO) reduces breast cancer risk by 53% in BRCA2 carriers.r Although no specific studies have been done, a similar breast cancer risk-reduction would be expected from RRSO for women with a ATM (c.7271T>G) mutation.
MRI+MMG is the preferred screening technique due to its high sensitivity. MRI detects tumours which are smaller and more likely to be node-negative than mammography. MRI has a recall rate (requiring further investigation and/or biopsy) of 15% for initial screening, which decreases with subsequent rounds of screening to <10%.
There is no evidence to date that early detection of breast cancer is associated with a better prognosis and survival in ATM mutation carriers. Despite this lack of evidence, surveillance is strongly recommended for women who decide not to have risk reducing surgery.
Tamoxifen and raloxifene have been shown to reduce the risk of breast cancer in high risk women. To date studies have not included enough ATM mutation carriers to determine if it is effective for primary prevention in this population. In view of the potential side effects associated with tamoxifen/raloxifene, risk-reducing medications should be discussed with an experienced medical professional to determine the relevant risks and benefits in an individual mutation carrier. See Cancer Australia Risk-reducing medication resource
There is currently no effective surveillance that detects early pancreatic cancer.