From the Guidelines
Individuals with an ATM gene mutation are at increased risk of developing breast cancer, particularly at a younger age, with a relative risk of 2.37 [ 1 ].
Key Points
- The risk is predominately for estrogen receptor (ER)-positive cancers [ 1 ].
- The risk remains stable with increasing age [ 1 ].
- There is no increased risk for contralateral breast cancer [ 1 ].
- Enhanced breast cancer screening is recommended, including annual mammograms and breast MRIs, starting at age 25-30 [ 1 ].
- Consideration should be given to taking risk-reducing medications such as tamoxifen (20mg daily) or raloxifene (60mg daily) for 5 years, after discussing the potential benefits and risks with a healthcare provider [ 1 ].
- Regular check-ups with a genetic counselor and a breast specialist are also advised to monitor for any changes in breast health and to discuss other risk-reducing options, such as preventive mastectomy [ 1 ]. Some of the key factors to consider when managing individuals with ATM gene mutations include:
- Family history: Individuals with a strong family history of breast cancer may be at higher risk [ 1 ].
- Personal history: Individuals with a personal history of breast cancer may be at higher risk of developing contralateral breast cancer [ 1 ].
- Genetic counseling: Genetic counseling is essential to help individuals understand their risk and make informed decisions about their care [ 1 ].
From the Research
Significance of ATM Gene Mutation in Breast Cancer
The ATM gene mutation has been studied extensively in relation to breast cancer, with varying results. Some studies suggest that heterozygous ATM mutations do not contribute to early onset of breast cancer 2, while others indicate that ATM mutations may be associated with an increased risk of breast cancer, particularly in younger women 3, 4, 5.
Association with Breast Cancer Risk
- The study by 3 found that ATM-heterozygous germline mutations contribute to breast cancer susceptibility, with an approximately ninefold-increased risk of developing a type of breast cancer characterized by frequent bilateral occurrence, early age at onset, and long-term survival.
- A systematic review and meta-analysis by 5 revealed an association between ATM variants and the risk of breast cancer, with an estimated odds ratio of 1.67 (95% CI: 0.73-3.82) and a relative risk of 1.68 (95% CI: 1.17-2.40).
- Another study by 4 found that female carriers of an ATM mutation have an increased risk of breast cancer, with a relative risk of 3.0 (95% CI 2.1-4.5).
Clinical Relevance
- The study by 6 highlights the relevance of the ATM gene in breast cancer clinical practice, with molecular alterations of the ATM gene frequently detected in breast cancer and associated with an increased risk of cancer development and worse prognosis.
- The review by 6 also discusses the potential implications of ATM mutations on therapeutic strategies in breast cancer management, including the possibility of sensitizing cancer cells to platinum-derived drugs.
Health Risks for ATM Mutation Carriers
- A systematic review and meta-analysis by 4 found that ATM mutation carriers have a reduced life expectancy due to mortality from cancer and ischemic heart diseases, as well as an increased risk of developing cancer, particularly breast cancer and cancers of the digestive tract.