From the Guidelines
Genetic testing for breast cancer, specifically BRCA mutation analysis, is recommended for certain high-risk individuals, including those with a strong family history of breast or ovarian cancer, those of Ashkenazi Jewish descent, or individuals with known BRCA1 or BRCA2 mutations in their family. According to the most recent guidelines from the American Society of Clinical Oncology (ASCO) 1, BRCA1/2 mutation testing should be offered to all newly diagnosed patients with breast cancer ≤65 years and select patients >65 years based on personal history, family history, ancestry, or eligibility for poly(ADP-ribose) polymerase (PARP) inhibitor therapy.
To pursue testing, it is essential to consult with a genetic counselor or healthcare provider specializing in cancer genetics. They will assess your risk factors and determine if testing is appropriate. If recommended, a blood or saliva sample is typically used for analysis. The testing can identify mutations that significantly increase breast cancer risk, allowing for enhanced screening, preventive measures, or early intervention.
Some key points to consider:
- Testing should be offered to women who develop a second primary cancer in the ipsilateral or contralateral breast.
- For patients with prior history of breast cancer and without active disease, testing should be offered to patients diagnosed ≤65 years and selectively in patients diagnosed after 65 years, if it will inform personal and family risk.
- Testing for high-penetrance cancer susceptibility genes beyond BRCA1/2 should be offered to those with supportive family histories; testing for moderate-penetrance genes may be offered if necessary to inform personal and family cancer risk.
- Patients should be provided enough pretest information for informed consent; those with pathogenic variants should receive individualized post-test counseling.
It is crucial to understand that a positive result doesn't guarantee cancer development, and a negative result doesn't eliminate all risk. If a mutation is found, options may include increased surveillance (more frequent mammograms, breast MRIs), preventive medications (like tamoxifen), or preventive surgeries (such as mastectomy or oophorectomy). These decisions should be made in consultation with healthcare providers. Genetic testing can provide valuable information for personalized cancer prevention and management strategies, but it also carries potential psychological and financial implications that should be carefully considered.
From the Research
Genetic Testing for Breast Cancer
- Genetic testing for breast cancer, specifically BRCA (Breast Cancer Gene) mutation analysis, is recommended for individuals with a personal or family history of cancer 2, 3, 4.
- The testing can help identify high-risk individuals who may benefit from earlier screening and more sensitive methods such as magnetic resonance imaging 2.
- Genetic testing can also guide decision-making about prophylactic surgeries and therapeutic options 2, 3.
Recommendations for Genetic Testing
- The American Society of Breast Surgeons recommends genetic testing for all patients with a personal history of breast cancer, including BRCA1/BRCA2 and PALB2, with other genes as appropriate for the clinical scenario and family history 4.
- Patients without a history of breast cancer who meet National Comprehensive Cancer Network guidelines should also be offered genetic testing 4.
- Variants of uncertain significance are not clinically actionable and patients should be managed based on their individual risk factors 2, 4.
Importance of Genetic Testing Awareness
- Awareness of genetic testing for breast cancer risk assessment is significantly associated with family history of breast cancer 5.
- Educational interventions are needed to heighten women's awareness of genetic testing and to clarify their knowledge of breast cancer risk factors 5.
- Genetic testing can enable appropriate patient-specific screening, allowing for improvement of overall survival by early detection and timely treatment 6.
Screening Recommendations
- Patients with high-risk gene mutations, such as BRCA1 and BRCA2, should be referred for genetic testing and counseling 3, 6.
- Moderate-risk genes, including ATM, CHEK2, and PALB2, should also be considered in genetic testing and counseling 6.
- Imaging appearances of breast cancer typically associated with each gene mutation, as well as other associated cancers, should be described and considered in screening recommendations 6.