Genetic Analysis of Breast Cancer: Outcomes and Subsequent Actions
Breast cancer genetic testing can provide valuable insights into a person's risk of developing the disease. Eligibility for this testing is determined by a combination of personal and family cancer history, risk thresholds based on validated models, and specific genetic risk factors.
Candidates for testing are selected based on a detailed risk profile that integrates family and personal history, validated risk thresholds, the presence of known pathogenic gene mutations in the family, and other clinical risk factors. Key factors that influence eligibility include a personal or family history of breast or related cancers, risk assessment models and guidelines, lifetime breast cancer risk estimates, the presence of known gene mutations in the family, ethnic background, and other risk factors such as age, reproductive history, breast density, BMI, and exposure to chest radiation.
Genetic counseling is typically recommended before testing to evaluate these factors comprehensively and discuss potential implications. It is important to note that approximately 10-15% of breast cancer cases occur due to hereditary genetic mutations.
The cost of genetic testing can range from $300-$5,000 without insurance coverage. Insurance companies may only pay for one genetic test during a person's lifetime, so it is crucial to consider this when choosing a testing method.
Results can take between 2-4 weeks to come back, but this may take longer depending on the laboratory, a person's insurance, and other factors. There are four possible results: positive result, negative result, variant of uncertain significance, and benign variant.
A negative result can confirm that a person has not inherited a gene related to breast cancer. However, it is essential to note that a negative result does not guarantee a zero risk of developing breast cancer. Females with an average breast cancer risk should still practice regular self-examinations, get regular breast exams, eat a well-balanced diet, exercise regularly, and minimize their alcohol intake.
Males who receive a negative result have the same risk of developing breast cancer as other males. On the other hand, those with a family history of a BRCA mutation, ovarian cancer, pancreatic cancer, breast cancer (especially early onset), a close family member with a history of metastatic prostate cancer, ovarian cancer, pancreatic cancer, or a second breast cancer diagnosis may benefit from genetic testing.
A positive result can guide management techniques to reduce the chance of developing breast cancer, provide information to other family members, and help guide treatment options for those who have breast cancer. Less often, a healthcare professional may suggest testing for PALB2, CHEK2, ATM, PTEN, TP53 genes.
People with an uncertain result may still have a higher chance of developing breast cancer and should discuss their options with a doctor. If a person with breast cancer receives a positive test result, a healthcare professional will discuss potential treatment options, such as hormonal therapy.
It is essential to remember that genetic testing is not suitable for everyone. Doctors typically recommend it for people at a higher risk of having a mutation on a gene that can increase a person's risk of developing breast cancer. Some companies offer at-home genetic breast cancer screening kits, but these typically test for common inherited genetic variants that only slightly increase a person's chance of developing breast cancer.
Genetic testing can provide benefits such as peace of mind, the ability to take steps to reduce the chance of developing cancer, making decisions about potential treatment options, and providing an opportunity for family members to learn about their cancer risk. However, it can also have potential harms such as anxiety, depression, or mental health concerns due to a positive result, cost of testing and follow-up appointments, uncertainty and stress due to abnormal or uncertain results, feelings of guilt if a person has passed on the genes, privacy and discrimination concerns, and may not be covered by insurance for life, disability, long-term care insurance, or military.
In summary, genetic testing for breast cancer can provide valuable insights into a person's risk of developing the disease. It is essential to discuss the risks, benefits, and eligibility with a healthcare professional before deciding to undergo testing.
- Breast cancer genetic testing can reveal insights about a person's risk of developing breast cancer, contingent on personal and family cancer history, risk thresholds based on validated models, and specific genetic risk factors.
- Eligibility for breast cancer genetic testing is based on a careful evaluation of family and personal history, validated cancer risk thresholds, the presence of known pathogenic gene mutations in the family, and other clinical risk factors.
- A negative result from breast cancer genetic testing might confirm that a person has not inherited a gene linked to breast cancer, but it does not ensure a zero risk of developing breast cancer.
- A positive result from breast cancer genetic testing can guide management techniques to lower the risk of developing breast cancer, inform other family members about their cancer risk, and help shape treatment for those with breast cancer.
- Genetic testing for breast cancer can also yield uncertainties, such as variant of uncertain significance or benign variant results, which may necessitate discussions with healthcare professionals.
- Ovarian cancer, pancreatic cancer, and early onset breast cancer, in addition to a family history of metastatic prostate cancer or a second breast cancer diagnosis, may indicate the need for further genetic testing.
